Minicards sorted by relevance: (Back to Microcards)

GeneCard: BLM   Bloom syndrome, RecQ helicase-like (GC15P089061; Chromosome 15:89,061,583-89,159,690) The following 22 records in the GeneCard text contribute to matching your query: - GENE: BLM | Bloom syndrome, RecQ helicase-like - OMIM: BLM-associated protein, 18kD; C16orf75, RMI2, BLAP18 | 612426 | - MOUSE HOMOLOG: Blm (on chromosome 7, 40.00 cM) Jun 06 2009 | gbaccs: AB008674 AK137022 AK139975 AK157898 AK164605 BB614580 BB655193 BC157095 BG077565 Z98263 | alleles:id=MGI:1857708;symbol=Blm;category=Targeted (knock-out);phenotypes=[ptid=MP:0002006;ptdesc="tumorigenesis & induction of new growth",ptid=MP:0005374;ptdesc="lethality-prenatal/perinatal",ptid=MP:0005378;ptdesc="growth/size phenotype",ptid=MP:0005380;ptdesc="embryogenesis phenotype",ptid=MP:0005384;ptdesc="cellular phenotype",ptid=MP:0005385;ptdesc="cardiovascular system phenotype & the observable morphological and physiological characteristics of the mammalian heart blood vessels, or circulatory system that are manifested through development and lifespan",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:2388038;symbol=Blm;category=Targeted (knock-out);phenotypes=[ptid=MP:0002006;ptdesc="tumorigenesis & induction of new growth",ptid=MP:0005384;ptdesc="cellular phenotype"] && id=MGI:3620977;symbol=Blm;category=Targeted (knock-in);phenotypes=[ptid=MP:0003012;ptdesc="no phenotypic analysis & no description of morphological physiological or behavioral information presented"] && id=MGI:2158669;symbol=Blm;category=Targeted (knock-out);phenotypes=[ptid=MP:0002873;ptdesc="normal phenotype",ptid=MP:0005374;ptdesc="lethality-prenatal/perinatal"] && id=MGI:2158670;symbol=Blm;category=Targeted (knock-out);phenotypes=[ptid=MP:0002006;ptdesc="tumorigenesis & induction of new growth",ptid=MP:0002873;ptdesc="normal phenotype",ptid=MP:0005378;ptdesc="growth/size phenotype",ptid=MP:0005387;ptdesc="immune system phenotype"] && id=MGI:2683764;symbol=Blm;category=Targeted (knock-out);phenotypes=[ptid=MP:0005374;ptdesc="lethality-prenatal/perinatal",ptid=MP:0005378;ptdesc="growth/size phenotype",ptid=MP:0005380;ptdesc="embryogenesis phenotype",ptid=MP:0005393;ptdesc="skin/coat/nails phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:3663359;symbol=Blm;category=Targeted (Floxed/Frt);phenotypes=[ptid=MP:0002006;ptdesc="tumorigenesis & induction of new growth"] - SWISSPROT: GENE: BLM                        SUBUNIT: Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 component of RMI complex                        DISEASE: Defects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability                        WEB RESOURCE: Name=BLMbase; Note=BLM mutation db; URL="http://bioinf.uta.fi/BLMbase/";                        WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=BLM";                        WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/blm/"; SWISSPROT: BLM | EC 3.6.1.- |GENE: BLM| [1417 amino acids; 159000 D] | P54132 |FUNCTION: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction|SUBUNIT: Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 component of RMI complex|INTERACTION: P39748:FEN1; NbExp=3; IntAct=EBI-621372, EBI-707816; P27694:RPA1; NbExp=1; IntAct=EBI-621372, EBI-621389; P54274:TERF1; NbExp=2; IntAct=EBI-621372, EBI-710997; Q15554:TERF2; NbExp=5; IntAct=EBI-621372, EBI-706637; Q14191:WRN; NbExp=4; IntAct=EBI-621372, EBI-368417; |SUBCELLULAR LOCATION: Nucleus|PTM: Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1|DISEASE: Defects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability|SIMILARITY: Belongs to the helicase family. RecQ subfamily|SIMILARITY: Contains 1 helicase ATP-binding domain|SIMILARITY: Contains 1 helicase C-terminal domain|SIMILARITY: Contains 1 HRDC domain|WEB RESOURCE: Name=BLMbase; Note=BLM mutation db; URL="http://bioinf.uta.fi/BLMbase/";|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BLM109.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=BLM";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/blm/"; |SECONDARY ACCESSIONS: Q52M96 |RECOMMENDED_NAME: Bloom syndrome protein && minedVia: UniProt - HGMD: BLM | HGMD entry for BLM | mutations - UNIGENE: Hs.716515 | Bloom syndrome, RecQ helicase-like | BLM | NM_000057 . . . - LITERATURE: Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. . . . - ENTREZGENE: chr=15 | contig= | cytoLoc=15q26.1 | dbXrefs=HGNC:1058,MIM:604610,Ensembl:ENSG00000197299,HPRD:05211 | egHugo= | egId=641 | end=89159690 | geneName=Bloom syndrome, RecQ helicase-like | genomicNucAcc=AC021422.25 AC124248.6 AY886902.1 CH471101.1 NG_007272.1 AC_000058.1 AC_000147.1 NC_000015.8 NT_010274.16 NW_001838222.1 NW_925940.1 | go=GO:0000781 GO:0006260 GO:0005737 GO:0000085 GO:0016787 GO:0009378 GO:0044237 GO:0051259 GO:0016887 GO:0016605 GO:0000405 GO:0045941 GO:0005622 GO:0048478 GO:0000739 GO:0001673 GO:0016818 GO:0000724 GO:0045120 GO:0005657 GO:0051782 GO:0003677 GO:0005524 GO:0046641 GO:0004386 GO:0051098 GO:0045950 GO:0005730 GO:0000166 GO:0051880 GO:0006974 GO:0031572 GO:0046632 GO:0006281 GO:0010165 GO:0002039 GO:0051276 GO:0000800 GO:0016363 GO:0031297 GO:0043140 GO:0000079 GO:0000723 | protAcc=AAW62255.1 EAX02107.1 EAX02108.1 P54132.1 Q3B7X0 BAH12008.1 BAH13907.1 BAG36927.1 AAH93622.1 AAI01568.1 AAI07424.1 AAI15031.1 AAI15033.1 AAI43281.1 AAA87850.1 NP_000048.1 | proteinAliases=Bloom syndrome protein | refseq=NM_000057.2(REVIEWED) | rnaNucAcc=AK295194.1 AK303159.1 AK314262.1 BC034480.1 BC062697.1 BC093622.1 BC101567.1 BC107423.1 BC115028.1 BC115029.1 BC115030.1 BC115031.1 BC115032.1 BC143280.1 BC143288.1 CR597614.1 CR615303.1 U39817.1 NM_000057.2 | start=89061583 | status=O | summary=The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq] | symbol=BLM | synonyms=BS MGC126616 MGC131618 MGC131620 RECQ2 RECQL2 RECQL3 | type=protein-coding - HGNC: accs=U39817 | aliases=BS, RECQL3, RECQ2 | dateApproved=1992-11-06 | dateModified=2009-03-19 | dateNameChanged=2009-03-19 | description=Bloom syndrome, RecQ helicase-like | egCuratedId=641 | egMappedId=641 | enzymeIds= | geneFamName= | hgnc=1058 | loc=15q26.1 | mgdId= | omimId=604610 | prevNames="Bloom syndrome" | prevSymbols= | pubmedIds=9388193 | refseqId= | refseqMappedId=NM_000057 | status=Approved | symbol=BLM | uniprotId=P54132 - HomoloGene:HomoloGene: Organism=Mm|Symbol=Blm|Location=|Description=Bloom syndrome homolog (human)|Nuc_Similarity=82.54|Prot_Similarity=77.62|EntrezGene=12144|GenBank=NM_001042527.1|Protein=NP_001035992.1|HomologeneId=47902|FormatType=new . . . - ACEVIEW: aceviewSymbol = BLM | acc=NM_000057;quality=1,acc=BC034480;quality=1,acc=AA903504;quality=1,acc=U39817;quality=1,acc=AA584761;quality=1,acc=BM542461;quality=1,acc=AW575595;quality=1,acc=BI091601;quality=1,acc=BM451903;quality=1,acc=BP363946;quality=1,acc=AI630521;quality=1,acc=BI091772;quality=1,acc=CB243435;quality=1,acc=BQ230262;quality=1,acc=CR615303;quality=1,acc=BM804157;quality=1,acc=AU185765;quality=1,acc=AI097184;quality=1,acc=CR597614;quality=1,acc=BC062697;quality=2,acc=AI114820;quality=2,acc=BX451969;quality=2,acc=BX643048;quality=2,acc=BX283839;quality=2,acc=BM040993;quality=2,acc=BG397477;quality=2,acc=BG756262;quality=2,acc=BG721596;quality=2,acc=BX106802;quality=2,acc=BU588736;quality=2,acc=BP366542;quality=2,acc=BE245802;quality=2,acc=BX643554;quality=2,acc=BG772975;quality=2,acc=BE535950;quality=2,acc=AL556853;quality=2,acc=AW138812;quality=2,acc=BQ316432;quality=2,acc=AW502890;quality=2,acc=BX474261;quality=2,acc=BE538092;quality=2,acc=CD707743;quality=3,acc=BE618504;quality=3,acc=AL556823;quality=3,acc=CD698394;quality=3,acc=AA862803;quality=3,acc=BG574669;quality=3,acc=BX475196;quality=3,acc=AW404657;quality=3,acc=BG199179;quality=3,acc=AA974756;quality=3,acc=BX419085;quality=3,acc=BI667071;quality=3,acc=AW503829;quality=4,acc=BE889560;quality=4,acc=AL120858;quality=4,acc=AA480209;quality=4,acc=BM041661;quality=4,acc=BQ359304;quality=4,acc=BG182955;quality=4,acc=AW504704;quality=4,acc=AI590599;quality=4,acc=BG192554;quality=5,acc=AI423875;quality=5,acc=BU431321;quality=5,acc=BE963549;quality=5,acc=AI394601;quality=5,acc=BG210806;quality=5,acc=BG185919;quality=6,acc=BG187329;quality=6,acc=AA904488;quality=6,acc=BG531593;quality=6,acc=BE940055;quality=7,acc=AA747832;quality=8,acc=AA249737;quality=9 - GAD: geneSymbol=BLM - HUGENAVIGATOR: geneSymbol=BLM | numDocs=29 - ECGENE: geneSymbol=BLM - EXPOLDB: geneSymbol=BLM - CST: products: protein=BLM;link=blm | pathways: | phosphosite: protein=BLM;link=P54132 | elisa: - ABCAM: proteins: protein=Blooms Syndrome Protein Blm;tid=1600 | antibodies: protein=Blooms Syndrome Protein Blm;tid=1600 - SIGMA: species=human | speciesEgid=641 | speciesSymbol=BLM | speciesProducts=categ:SH;relType:shRNA panel;linkId:9re;linkSymbol:BLM && categ:SH;relType:shRNA;linkId:9re;linkSymbol:BLM && categ:SI;relType:siRNA;linkId:9re;linkSymbol:BLM && categ:SI;relType:siRNA panel;linkId:9re;linkSymbol:BLM && categ:AB;relType:antibody;linkId:9re;linkSymbol:BLM | speciesPathwaysSummaryId=ING:9re | speciesPathways=pathwayId:ING:3ddup;pathwayDescr:Role of BRCA1 in DNA Damage Response && pathwayId:ING:dt3;pathwayDescr:Purine Metabolism - HINV: geneSymbol=BLM - ABNOVA: link: BLM | antibodies:yes | recombProts:yes | rnai:yes - NOVUS: link=BLM | catalogNums=NB100-214 NB100-324 NB100-669 H00000641-M01 H00000641-A01 NB100-66594 - SABIOSCIENCES: tfbs:link=BLM | gnc:link=BLM GeneCard: BLMH   bleomycin hydrolase (GC17M025599; Chromosome 17:25,599,349-25,643,204) The following 4 records in the GeneCard text contribute to matching your query: - ALIASES: BH (HGNC)| BH (SP)| BH (EG)| BMH (OMIM)| BMH (SP)| BMH (EG)| BLM hydrolase (SP) - SWISSPROT: FUNCTION: The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity (By similarity)SWISSPROT: BLMH | EC 3.4.22.40 |GENE: BLMH| [455 amino acids; 52562 D] | Q13867 |FUNCTION: The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity (By similarity)|CATALYTIC ACTIVITY: Inactivates bleomycin B2 (a cytotoxic glycometallopeptide) by hydrolysis of a carboxyamide bond of beta-aminoalanine, but also shows general aminopeptidase activity. The specificity varies somewhat with source, but amino acid arylamides of Met, Leu and Ala are preferred|SUBUNIT: Homohexamer|SUBCELLULAR LOCATION: Cytoplasm|SIMILARITY: Belongs to the peptidase C1 family |PDB: 1CB5; 2CB5; |SECONDARY ACCESSIONS: Q53F86 Q9UER9 |RECOMMENDED_NAME: Bleomycin hydrolase && minedVia: UniProt - ENTREZGENE: chr=17 | contig= | cytoLoc=17q11.2 | dbXrefs=HGNC:1059,MIM:602403,Ensembl:ENSG00000108578,HPRD:03870 | egHugo= | egId=642 | end=25643200 | geneName=bleomycin hydrolase | genomicNucAcc=AC087644.8 AC104984.14 CH471159.1 NG_011440.1 AC_000060.1 AC_000149.1 NC_000017.9 NT_010799.14 NW_001838430.2 NW_926750.1 | go=GO:0004180 GO:0042493 GO:0005634 GO:0008233 GO:0005737 GO:0005625 GO:0009636 GO:0004177 GO:0006508 GO:0004197 | protAcc=EAW51224.1 Q13867.1 AAC72951.1 BAD97123.1 BAG63365.1 BAG35743.1 AAH03616.1 AAP35664.1 CAA63078.1 NP_000377.1 | proteinAliases=- | refseq=NM_000386.2(REVIEWED) | rnaNucAcc=AF091082.1 AK223403.1 AK301948.1 AK312896.1 BC003616.2 BG471412.1 BT007018.1 X92106.1 NM_000386.2 | start=25599349 | status=O | summary=Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq] | symbol=BLMH | synonyms=BH BMH | type=protein-coding - HomoloGene:Organism=Str|Symbol=Str.6189|Location= |Description=Transcribed sequence with moderate similarity to protein spQ13867 (H.sapiens) BLMH_HUMAN Bleomycin hydrolase (BLM hydrolase) (BMH) (BH)|Similarity=76.35|EntrezGene=|Unigene=687056|GenBank=BX724679.1|FormatType=old . . . GeneCard: C16orf75   chromosome 16 open reading frame 75 (GC16P011318; Chromosome 16:11,318,137-11,353,118) The following 4 records in the GeneCard text contribute to matching your query: - ALIASES: RecQ-mediated genome instability 2, S. cerevisiae, homolog of (EG)| hypothetical protein LOC116028 (EG)| MGC24665 (HGNC)| MGC24665 (EG)| RMI2 (OMIM)| RMI2 (EG)| BLAP18 (OMIM)| BLAP18 (SP)| BLAP18 (EG)| BLM-associated protein of 18 kDa (SP)| hRMI2 (SP) - OMIM: BLM-associated protein, 18kD; RMI2, BLAP18 | 612426 | - SWISSPROT: FUNCTION: Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. The complex is therefore essential for the stability, localization, and function of complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM                        SUBUNIT: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM                        SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with BLM at nuclear DNA repair fociSWISSPROT: RMI2 | |GENE: RMI2| [147 amino acids; 15865 D] | Q96E14 |FUNCTION: Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. The complex is therefore essential for the stability, localization, and function of complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM|SUBUNIT: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM|SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with BLM at nuclear DNA repair foci|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96E14-1; Sequence=Displayed; Name=2; IsoId=Q96E14-2; Sequence=VSP_027287; Note=No experimental confirmation available; |PTM: Phosphorylated during mitosis|SIMILARITY: Belongs to the RMI2 family|SIMILARITY: Contains 1 OB DNA-binding domain |SECONDARY ACCESSIONS: B3KVZ6 Q49AE2 Q8TBL0 |RECOMMENDED_NAME: RecQ-mediated genome instability protein 2 && minedVia: UniProt - ENTREZGENE: chr=16 | contig= | cytoLoc=16p13.13 | dbXrefs=HGNC:28349,MIM:612426,Ensembl:ENSG00000175643,HPRD:14497 | egHugo= | egId=116028 | end=11353118 | geneName=chromosome 16 open reading frame 75 | genomicNucAcc=AC009121.8 CH471112.2 AC_000059.1 AC_000148.1 NC_000016.8 NT_010393.15 NW_001838343.1 NW_926018.1 | go=GO:0005634 GO:0003677 GO:0006260 | protAcc=EAW85155.1 Q96E14.2 BAG53958.1 AAH13040.2 AAH22427.1 AAH31016.1 AAH39361.1 NP_689521.1 | proteinAliases=RecQ-mediated genome instability 2, S. cerevisiae, homolog of|hypothetical protein LOC116028 | refseq=NM_152308.1(PREDICTED) | rnaNucAcc=AK123764.1 BC013040.2 BC022427.1 BC031016.1 BC039361.1 CR592375.1 CR593562.1 CR598957.1 CR611079.1 CR620636.1 CR626010.1 CR626823.1 NM_152308.1 | start=11346812 | status=O | summary=RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM] | symbol=C16orf75 | synonyms=BLAP18 MGC24665 RMI2 | type=protein-coding GeneCard: RMI1   RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (GC09P085786; Chromosome 9:85,785,457-85,808,809) The following 4 records in the GeneCard text contribute to matching your query: - ALIASES: BLM-Associated Polypeptide, 75 kDa (EG)| BLM-associated protein 75 kDa (EG)| OTTHUMP00000021566 (EG)| RMI1, RecQ mediated genome instability 1, homolog (EG)| RP11-346I8.1 (EG)| homolog of yeast RecQ-mediated genome instability 1 (RMI1) (EG)| chromosome 9 open reading frame 76 (HGNC)| FLJ12888 (HGNC)| FLJ12888 (EG)| BLAP75 (HGNC)| BLAP75 (SP)| BLAP75 (EG)| BLM-associated protein of 75 kDa (SP)| FAAP75 (SP)| C9orf76 (SP)| C9orf76 (EG) - SWISSPROT: FUNCTION: Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability                        SUBUNIT: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM. Directly interacts with RMI2/C16orf75, BLM and TOP3A. May bind DHJSWISSPROT: RMI1 | |GENE: RMI1| [625 amino acids; 70117 D] | Q9H9A7 |FUNCTION: Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability|SUBUNIT: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM. Directly interacts with RMI2/C16orf75, BLM and TOP3A. May bind DHJ|SUBCELLULAR LOCATION: Nucleus. Note=Forms foci in response to DNA damage|SIMILARITY: Belongs to the RMI1 family|SEQUENCE CAUTION: Sequence=AAH20606.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH32494.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH39999.1; Type=Frameshift; Positions=377, 444; Sequence=AAH53549.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH64937.1; Type=Frameshift; Positions=377, 444; Sequence=CAI13575.1; Type=Erroneous gene model prediction; |SECONDARY ACCESSIONS: Q05BX1 Q05CW3 Q5SQG8 Q5SQG9 Q6P1Q4 Q6PI89 Q7Z6L6 |RECOMMENDED_NAME: RecQ-mediated genome instability protein 1 && minedVia: UniProt - LITERATURE: BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous recombination intermediates. . . . - ENTREZGENE: chr=9 | contig= | cytoLoc=9q21.32 | dbXrefs=HGNC:25764,MIM:610404,Ensembl:ENSG00000178966,HPRD:09867 | egHugo= | egId=80010 | end=85808809 | geneName=RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) | genomicNucAcc=AL354733.15 AL732446.4 CH471089.1 AC_000052.1 AC_000141.1 NC_000009.10 NT_023935.17 NW_001839221.1 NW_924484.1 | go=GO:0005634 GO:0006260 GO:0003676 | protAcc=CAI13575.1 CAI13576.1 EAW62682.1 EAW62683.1 Q9H9A7.2 BAB14325.1 AAH20606.1 AAH32494.1 AAH39999.1 AAH53549.1 AAH64937.1 NP_079221.2 | proteinAliases=BLM-Associated Polypeptide, 75 kDa|BLM-associated protein 75 kDa|OTTHUMP00000021566|RMI1, RecQ mediated genome instability 1, homolog|homolog of yeast RecQ-mediated genome instability 1 (RMI1) | refseq=NM_024945.2(VALIDATED) | rnaNucAcc=AJ420435.1 AK022950.1 BC020606.1 BC032494.1 BC039999.2 BC044571.1 BC053549.1 BC064937.1 BP327553.1 DN997105.1 NM_024945.2 | start=85785457 | status=O | summary=RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM] | symbol=RMI1 | synonyms=BLAP75 C9orf76 FLJ12888 RP11-346I8.1 | type=protein-coding GeneCard: WRN   Werner syndrome, RecQ helicase-like (GC08P031010; Chromosome 8:31,010,320-31,150,818) The following 4 records in the GeneCard text contribute to matching your query: - SWISSPROT: INTERACTION: P54132:BLM; NbExp=4; IntAct=EBI-368417, EBI-621372; P39748:FEN1; NbExp=7; IntAct=EBI-368417, EBI-707816; P09874:PARP1; NbExp=2; IntAct=EBI-368417, EBI-355676; P43351:RAD52; NbExp=4; IntAct=EBI-368417, EBI-706448; P27694:RPA1; NbExp=4; IntAct=EBI-368417, EBI-621389; Q15554:TERF2; NbExp=4; IntAct=EBI-368417, EBI-706637; P04637:TP53; NbExp=2; IntAct=EBI-368417, EBI-366083; P55072:VCP; NbExp=1; IntAct=EBI-368417, EBI-355164; Q3ZBT1:VCP (xeno); NbExp=1; IntAct=EBI-368417, EBI-706432; SWISSPROT: WRN | EC 3.6.1.- |GENE: WRN| [1432 amino acids; 162495 D] | Q14191 |FUNCTION: Essential for the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity. May be involved in the control of genomic stability (By similarity)|SUBUNIT: Interacts via its N-terminal domain with WRNIP1 (By similarity). Interacts with EXO1|INTERACTION: P54132:BLM; NbExp=4; IntAct=EBI-368417, EBI-621372; P39748:FEN1; NbExp=7; IntAct=EBI-368417, EBI-707816; P09874:PARP1; NbExp=2; IntAct=EBI-368417, EBI-355676; P43351:RAD52; NbExp=4; IntAct=EBI-368417, EBI-706448; P27694:RPA1; NbExp=4; IntAct=EBI-368417, EBI-621389; Q15554:TERF2; NbExp=4; IntAct=EBI-368417, EBI-706637; P04637:TP53; NbExp=2; IntAct=EBI-368417, EBI-366083; P55072:VCP; NbExp=1; IntAct=EBI-368417, EBI-355164; Q3ZBT1:VCP (xeno); NbExp=1; IntAct=EBI-368417, EBI-706432; |SUBCELLULAR LOCATION: Nucleus, nucleolus|PTM: Phosphorylated by PRKDC. Phosphorylated upon DNA damage, probably by ATM or ATR|DISEASE: Defects in WRN are a cause of Werner syndrome (WRN) [MIM:277700]. WRN is a rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction. Currently all known WS mutations produces prematurely terminated proteins|DISEASE: Defects in WRN may be a cause of colorectal cancer (CRC) [MIM:114500]|SIMILARITY: Belongs to the helicase family. RecQ subfamily|SIMILARITY: Contains 1 3'-5' exonuclease domain|SIMILARITY: Contains 1 helicase ATP-binding domain|SIMILARITY: Contains 1 helicase C-terminal domain|SIMILARITY: Contains 1 HRDC domain|WEB RESOURCE: Name=WRN; Note=WRN mutation db (Warner disease); URL="http://www.pathology.washington.edu/werner/ws_wrn.html";|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/WRNID284.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=WRN";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/wrn/"; |PDB: 2AXL; 2DGZ; 2E1E; 2E1F; 2FBT; 2FBV; 2FBX; 2FBY; 2FC0; |SECONDARY ACCESSIONS: A1KYY9 |RECOMMENDED_NAME: Werner syndrome ATP-dependent helicase && minedVia: UniProt - LITERATURE: The processing of Holliday junctions by BLM and WRN helicases is regulated by p53. . . . - ENSEMBL: ens_id: ENSG00000165392 | Contig: | Start: 31010320 | End: 31150818 | sp_id: WRN_HUMAN | embl_id: | OMIM: 604611 | Refseq: NM_000553.4 | PDB: | sptrembl_id: Q59F09 | go_id: 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|ATP-dependent helicase activity|ATPase activity|DNA binding|DNA metabolic process|DNA recombination|DNA synthesis during DNA repair|G-quadruplex DNA binding|MutLalpha complex|Y-form DNA binding|base-excision repair|bubble DNA binding|catalytic activity|cellular metabolic process|centrosome|four-way junction helicase activity|helicase activity|hydrolase activity|intracellular|multicellular organismal aging|nucleic acid binding|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|nucleolus|nucleoplasm|nucleotide binding|nucleus|positive regulation of hydrolase activity|protein complex binding|protein homodimerization activity|regulation of apoptosis|regulation of growth rate|replication fork processing|replicative cell aging|response to DNA damage stimulus|response to UV-C|response to oxidative stress|telomere maintenance | band: 8p12 | ens_protid: ENSP00000298139 | ens_transcriptid: ENST00000298139 | paralogs: ens_id=ENSG00000197299;symbol=BLM; , ens_id=ENSG00000004700;symbol=RECQL; - STRING: ensp: ENSP00000298139 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.959 && partner=ENSP00000308908;symbol=GPR148;score=.754 && partner=ENSP00000269305;symbol=TP53;score=.995 && partner=ENSP00000263681;symbol=POLD3;score=.735 && partner=ENSP00000310449;symbol=;score=.71 && partner=ENSP00000362131;symbol=RPA4;score=.808 && partner=ENSP00000305480;symbol=FEN1;score=.999 && partner=ENSP00000351807;symbol=ELN;score=.818 && partner=ENSP00000337332;symbol=SIRT6;score=.866 && partner=ENSP00000355759;symbol=PARP1;score=.977 && partner=ENSP00000364310;symbol=H2AFX;score=.904 && partner=ENSP00000352011;symbol=CACNA1G;score=.706 && partner=ENSP00000223129;symbol=RPA3;score=.808 && partner=ENSP00000212015;symbol=SIRT1;score=.91 && partner=ENSP00000265849;symbol=PMS2;score=.878 && partner=ENSP00000371446;symbol=;score=.947 && partner=ENSP00000365275;symbol=;score=.72 && partner=ENSP00000309572;symbol=TERT;score=.754 && partner=ENSP00000265421;symbol=POLB;score=.979 && partner=ENSP00000351284;symbol=RAD52;score=.976 && partner=ENSP00000370150;symbol=WRNIP1;score=.984 && partner=ENSP00000361465;symbol=POLR1C;score=.954 && partner=ENSP00000368933;symbol=TFAP2A;score=.848 && partner=ENSP00000338408;symbol=RAD51L3;score=.861 && partner=ENSP00000374163;symbol=;score=.967 && partner=ENSP00000254942;symbol=TERF2;score=.986 && partner=ENSP00000351185;symbol=DNA2;score=.871 && partner=ENSP00000250416;symbol=PARP2;score=.925 && partner=ENSP00000313420;symbol=PRKDC;score=.869 && partner=ENSP00000353166;symbol=;score=.861 && partner=ENSP00000313346;symbol=ENOSF1;score=.822 && partner=ENSP00000350283;symbol=BRCA1;score=.96 && partner=ENSP00000227524;symbol=PRPF19;score=.904 && partner=ENSP00000263073;symbol=SMG6;score=.754 && partner=ENSP00000368438;symbol=PCNA;score=.988 && partner=ENSP00000372088;symbol=RAD51;score=.852 && partner=ENSP00000363015;symbol=RPA2;score=.808 && partner=ENSP00000310700;symbol=;score=.861 && partner=ENSP00000223361;symbol=POLD2;score=.924 && partner=ENSP00000347232;symbol=BLM;score=.799 && partner=ENSP00000352257;symbol=XRCC6;score=.998 && partner=ENSP00000352678;symbol=SUPV3L1;score=.923 && partner=ENSP00000325863;symbol=MRE11A;score=.966 && partner=ENSP00000283646;symbol=RPIA;score=.852 && partner=ENSP00000221481;symbol=ERCC2;score=.788 && partner=ENSP00000357283;symbol=LMNA;score=.874 && partner=ENSP00000262266;symbol=POLD1;score=.795 && partner=ENSP00000351777;symbol=VCP;score=.959 && partner=ENSP00000329528;symbol=XRCC5;score=.998 && partner=ENSP00000350249;symbol=POT1;score=.956 GeneCard: FANCD2   Fanconi anemia, complementation group D2 (GC03P010043; Chromosome 3:10,043,113-10,118,614) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1, BRCA2 and BLMSWISSPROT: FACD2 | |GENE: FANCD2| [1471 amino acids; 166462 D] | Q9BXW9 |FUNCTION: Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching|SUBUNIT: Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1, BRCA2 and BLM|INTERACTION: P51587:BRCA2; NbExp=9; IntAct=EBI-359343, EBI-79792; P51587:BRCA2; NbExp=2; IntAct=EBI-596878, EBI-79792; Q9HB96:FANCE; NbExp=2; IntAct=EBI-359343, EBI-396803; Q9NVI1:FANCI; NbExp=1; IntAct=EBI-359343, EBI-1013291; O00255:MEN1; NbExp=4; IntAct=EBI-359343, EBI-592789; |SUBCELLULAR LOCATION: Nucleus. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BXW9-1; Sequence=Displayed; Note=Less abundant than isoform 2, may be not functional; Name=2; IsoId=Q9BXW9-2; Sequence=VSP_013887, VSP_013888; Note=Phosphorylated on Ser-1435; Name=3; IsoId=Q9BXW9-3; Sequence=VSP_013885, VSP_013886; Note=No experimental confirmation available; Name=4; IsoId=Q9BXW9-4; Sequence=VSP_013883, VSP_013884; Note=No experimental confirmation available; |TISSUE SPECIFICITY: Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes|DEVELOPMENTAL STAGE: Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone marrow (at protein level)|DOMAIN: The C-terminal 24 residues of isoform 2 are required for its function|PTM: Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex, RPA1 and ATR, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1 and BRCA2, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1|PTM: Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation|DISEASE: Defects in FANCD2 are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FAD.html";|WEB RESOURCE: Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpd2.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=FANCD2";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fancd2/"; |SECONDARY ACCESSIONS: Q2LA86 Q69YP9 Q6PJN7 Q9BQ06 Q9H9T9 |RECOMMENDED_NAME: Fanconi anemia group D2 protein && minedVia: UniProt - LITERATURE: BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks. . . . - STRING: ensp: ENSP00000287647 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.724 && partner=ENSP00000359380;symbol=SCD;score=.718 && partner=ENSP00000300027;symbol=FANCI;score=.997 && partner=ENSP00000259008;symbol=BRIP1;score=.967 && partner=ENSP00000359153;symbol=COL12A1;score=.899 && partner=ENSP00000364310;symbol=H2AFX;score=.79 && partner=ENSP00000326819;symbol=FANCB;score=.858 && partner=ENSP00000372583;symbol=;score=.899 && partner=ENSP00000367910;symbol=FANCG;score=.999 && partner=ENSP00000364454;symbol=FANCC;score=.999 && partner=ENSP00000261584;symbol=PALB2;score=.958 && partner=ENSP00000185885;symbol=UBE2D1;score=.811 && partner=ENSP00000233741;symbol=FANCL;score=.996 && partner=ENSP00000368100;symbol=RAD50;score=.853 && partner=ENSP00000310520;symbol=ERCC4;score=.809 && partner=ENSP00000374163;symbol=;score=.999 && partner=ENSP00000360188;symbol=USP1;score=.901 && partner=ENSP00000278916;symbol=CHEK1;score=.834 && partner=ENSP00000358311;symbol=DCLRE1A;score=.763 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000265433;symbol=NBN;score=.918 && partner=ENSP00000331987;symbol=;score=.707 && partner=ENSP00000369497;symbol=BRCA2;score=.999 && partner=ENSP00000323421;symbol=SMC1A;score=.785 && partner=ENSP00000372088;symbol=RAD51;score=.933 && partner=ENSP00000267430;symbol=FANCM;score=.964 && partner=ENSP00000337088;symbol=MEN1;score=.96 && partner=ENSP00000347232;symbol=BLM;score=.846 && partner=ENSP00000373952;symbol=FANCA;score=.997 && partner=ENSP00000372023;symbol=CHEK2;score=.898 && partner=ENSP00000325863;symbol=MRE11A;score=.931 && partner=ENSP00000333283;symbol=C17orf70;score=.889 && partner=ENSP00000260947;symbol=BARD1;score=.985 && partner=ENSP00000340330;symbol=KAT5;score=.911 && partner=ENSP00000330875;symbol=FANCF;score=.996 && partner=ENSP00000229769;symbol=FANCE;score=.999 && partner=ENSP00000344818;symbol=UBC;score=.76 && partner=ENSP00000356243;symbol=UBE2T;score=.868 && partner=ENSP00000254262;symbol=C19orf40;score=.837 GeneCard: MLH1   mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (GC03P037009; Chromosome 3:37,009,983-37,067,341) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Heterodimer of MLH1 and PMS2 (MutL alpha), MLH1 and PMS1 (MutL beta) or MLH1 and MLH3 (MutL gamma). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MBD4. Interacts with EXO1SWISSPROT: MLH1 | |GENE: MLH1| [756 amino acids; 84601 D] | P40692 |FUNCTION: Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis|SUBUNIT: Heterodimer of MLH1 and PMS2 (MutL alpha), MLH1 and PMS1 (MutL beta) or MLH1 and MLH3 (MutL gamma). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MBD4. Interacts with EXO1|INTERACTION: P54278:PMS2; NbExp=1; IntAct=EBI-744248, EBI-1162561; P62328:TMSB4X; NbExp=1; IntAct=EBI-744248, EBI-712598; |SUBCELLULAR LOCATION: Nucleus|TISSUE SPECIFICITY: Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart|DISEASE: Defects in MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected|DISEASE: Defects in MLH1 are a cause of Turcot syndrome [MIM:276300]; also called mismatch repair cancer syndrome (MMRCS). Turcot syndrome is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots|DISEASE: Defects in MLH1 are a cause of Muir-Torre syndrome (MTS) [MIM:158320]. MTS is a rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy|DISEASE: Defects in MLH1 may contribute to lobular carcinoma in situ (LCIS), a non-invasive neoplastic disease of the breast|DISEASE: Defects in MLH1 are a cause of susceptibility to endometrial cancer [MIM:608089]|DISEASE: Some epigenetic changes can be transmitted unchanged through the germline (termed 'epigenetic inheritance'). Evidence that this mechanism occurs in humans is provided by the identification of individuals in whom 1 allele of the MLH1 gene is epigenetically silenced throughout the soma (implying a germline event). These individuals are affected by HNPCC but does not have identifiable mutations in MLH1, even though it is silenced, which demonstrats that an epimutation can phenocopy a genetic disease|SIMILARITY: Belongs to the DNA mismatch repair mutL/hexB family|WEB RESOURCE: Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/";|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MLH1ID149ch3p21.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=MLH1";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mlh1/"; |RECOMMENDED_NAME: DNA mismatch repair protein Mlh1 && minedVia: UniProt - LITERATURE: The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair. . . . - STRING: ensp: ENSP00000231790 | interactions: partner=ENSP00000303706;symbol=CDC25A;score=.774 && partner=ENSP00000257430;symbol=APC;score=.822 && partner=ENSP00000235372;symbol=PRDM2;score=.712 && partner=ENSP00000360304;symbol=SPO11;score=.861 && partner=ENSP00000302625;symbol=AXIN2;score=.71 && partner=ENSP00000361021;symbol=PTEN;score=.945 && partner=ENSP00000355153;symbol=CDKN2A;score=.839 && partner=ENSP00000342087;symbol=FHIT;score=.819 && partner=ENSP00000298139;symbol=WRN;score=.959 && partner=ENSP00000266880;symbol=CHFR;score=.742 && partner=ENSP00000262887;symbol=XRCC1;score=.81 && partner=ENSP00000013807;symbol=ERCC1;score=.732 && partner=ENSP00000352011;symbol=CACNA1G;score=.75 && partner=ENSP00000357643;symbol=MKI67;score=.786 && partner=ENSP00000352323;symbol=RASSF1;score=.75 && partner=ENSP00000265849;symbol=PMS2;score=.999 && partner=ENSP00000299529;symbol=CRABP1;score=.748 && partner=ENSP00000364912;symbol=SPEN;score=.72 && partner=ENSP00000268794;symbol=CDH1;score=.821 && partner=ENSP00000265195;symbol=SIL1;score=.75 && partner=ENSP00000365095;symbol=;score=.75 && partner=ENSP00000351284;symbol=RAD52;score=.787 && partner=ENSP00000364772;symbol=;score=.829 && partner=ENSP00000368100;symbol=RAD50;score=.978 && partner=ENSP00000352239;symbol=MUTYH;score=.989 && partner=ENSP00000310520;symbol=ERCC4;score=.787 && partner=ENSP00000308944;symbol=HLTF;score=.734 && partner=ENSP00000269571;symbol=ERBB2;score=.741 && partner=ENSP00000288602;symbol=BRAF;score=.905 && partner=ENSP00000350283;symbol=BRCA1;score=.984 && partner=ENSP00000256078;symbol=KRAS;score=.791 && partner=ENSP00000343888;symbol=PMS1;score=.743 && partner=ENSP00000265433;symbol=NBN;score=.933 && partner=ENSP00000265339;symbol=UBE2B;score=.705 && partner=ENSP00000368438;symbol=PCNA;score=.993 && partner=ENSP00000329418;symbol=SOCS1;score=.74 && partner=ENSP00000296273;symbol=RFC4;score=.732 && partner=ENSP00000355125;symbol=;score=.702 && partner=ENSP00000317580;symbol=NEUROG1;score=.746 && partner=ENSP00000306561;symbol=OGG1;score=.807 && partner=ENSP00000311873;symbol=EXO1;score=.999 && partner=ENSP00000222726;symbol=HOXA5;score=.847 && partner=ENSP00000233146;symbol=MSH2;score=.999 && partner=ENSP00000263967;symbol=PIK3CA;score=.82 && partner=ENSP00000351015;symbol=NF1;score=.938 && partner=ENSP00000339250;symbol=DPPA3;score=.778 && partner=ENSP00000260356;symbol=THBS1;score=.744 && partner=ENSP00000373936;symbol=;score=.985 && partner=ENSP00000269305;symbol=TP53;score=.954 && partner=ENSP00000351956;symbol=MUC2;score=.702 && partner=ENSP00000344456;symbol=CTNNB1;score=.805 && partner=ENSP00000234420;symbol=MSH6;score=.994 && partner=ENSP00000348020;symbol=MLH3;score=.918 && partner=ENSP00000343477;symbol=RUNX3;score=.75 && partner=ENSP00000242728;symbol=BHLHE41;score=.856 && partner=ENSP00000359857;symbol=;score=.981 && partner=ENSP00000305480;symbol=FEN1;score=.871 && partner=ENSP00000259008;symbol=BRIP1;score=.775 && partner=ENSP00000276925;symbol=CDKN2B;score=.842 && partner=ENSP00000302111;symbol=MGMT;score=.843 && partner=ENSP00000364310;symbol=H2AFX;score=.718 && partner=ENSP00000341551;symbol=SMAD4;score=.829 && partner=ENSP00000219865;symbol=APBA2;score=.75 && partner=ENSP00000253727;symbol=NR1H2;score=.71 && partner=ENSP00000374163;symbol=;score=.984 && partner=ENSP00000351905;symbol=TGFBR2;score=.888 && partner=ENSP00000278916;symbol=CHEK1;score=.791 && partner=ENSP00000371321;symbol=RFC1;score=.808 && partner=ENSP00000265381;symbol=APBA1;score=.75 && partner=ENSP00000242261;symbol=TWIST1;score=.772 && partner=ENSP00000274813;symbol=MUT;score=.73 && partner=ENSP00000196968;symbol=GSTP1;score=.75 && partner=ENSP00000369497;symbol=BRCA2;score=.873 && partner=ENSP00000372088;symbol=RAD51;score=.858 && partner=ENSP00000266743;symbol=SYCP3;score=.71 && partner=ENSP00000368960;symbol=;score=.836 && partner=ENSP00000287647;symbol=FANCD2;score=.724 && partner=ENSP00000249910;symbol=MBD4;score=.987 && partner=ENSP00000367207;symbol=MYC;score=.936 && partner=ENSP00000268613;symbol=CDH13;score=.815 && partner=ENSP00000328829;symbol=LMLN;score=.75 && partner=ENSP00000347232;symbol=BLM;score=.99 && partner=ENSP00000356438;symbol=PTGS2;score=.788 && partner=ENSP00000352257;symbol=XRCC6;score=.752 && partner=ENSP00000372023;symbol=CHEK2;score=.931 && partner=ENSP00000314080;symbol=HIC1;score=.742 && partner=ENSP00000325863;symbol=MRE11A;score=.97 && partner=ENSP00000267163;symbol=RB1;score=.817 && partner=ENSP00000221481;symbol=ERCC2;score=.726 && partner=ENSP00000373282;symbol=RARB;score=.734 && partner=ENSP00000266085;symbol=TIMP3;score=.75 && partner=ENSP00000262266;symbol=POLD1;score=.745 && partner=ENSP00000293288;symbol=BAX;score=.831 && partner=ENSP00000324856;symbol=STK11;score=.808 && partner=ENSP00000368686;symbol=E2F4;score=.7 && partner=ENSP00000352516;symbol=DNMT1;score=.855 GeneCard: MSH2   mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (GC02P047541; Chromosome 2:47,483,767-47,593,877) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2-MSH3 (MutS beta). Both heterodimer form a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATRSWISSPROT: MSH2 | |GENE: MSH2| [934 amino acids; 104743 D] | P43246 |FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis|SUBUNIT: Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2-MSH3 (MutS beta). Both heterodimer form a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR|INTERACTION: Self; NbExp=1; IntAct=EBI-355888, EBI-355888; P39875:EXO1 (xeno); NbExp=1; IntAct=EBI-355888, EBI-6738; Q9UQ84-1:EXO1; NbExp=2; IntAct=EBI-355888, EBI-944694; P20585:MSH3; NbExp=1; IntAct=EBI-355888, EBI-1164205; P52701:MSH6; NbExp=1; IntAct=EBI-355888, EBI-395529; O75365:PTP4A3; NbExp=1; IntAct=EBI-355888, EBI-1043866; |SUBCELLULAR LOCATION: Nucleus (Potential)|TISSUE SPECIFICITY: Ubiquitously expressed|PTM: Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway|PTM: Phosphorylated upon DNA damage, probably by ATM or ATR|DISEASE: Defects in MSH2 are the cause of hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. MSH2 mutations may predispose to hematological malignancies and multiple cafe-au-lait spots|DISEASE: Defects in MSH2 are a cause of Muir-Torre syndrome (MTS) [MIM:158320]. MTS is a rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy|DISEASE: Defects in MSH2 are a cause of susceptibility to endometrial cancer [MIM:608089]|SIMILARITY: Belongs to the DNA mismatch repair mutS family|SEQUENCE CAUTION: Sequence=AAC27930.1; Type=Frameshift; Positions=417; Note=The frameshift is caused by a single nucleotide deletion which is found in a HNPCC kindred; |WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MSH2ID340ch2p22.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=MSH2";|WEB RESOURCE: Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msh2/"; |PDB: 2O8B; 2O8C; 2O8D; 2O8E; 2O8F; |SECONDARY ACCESSIONS: O75488 |RECOMMENDED_NAME: DNA mismatch repair protein Msh2 && minedVia: UniProt - LITERATURE: The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase. . . . - STRING: ensp: ENSP00000233146 | interactions: partner=ENSP00000373936;symbol=;score=.999 && partner=ENSP00000231790;symbol=MLH1;score=.999 && partner=ENSP00000269305;symbol=TP53;score=.973 && partner=ENSP00000257430;symbol=APC;score=.728 && partner=ENSP00000348020;symbol=MLH3;score=.963 && partner=ENSP00000234420;symbol=MSH6;score=.999 && partner=ENSP00000364270;symbol=XPA;score=.738 && partner=ENSP00000361021;symbol=PTEN;score=.91 && partner=ENSP00000305480;symbol=FEN1;score=.94 && partner=ENSP00000242576;symbol=UNG;score=.755 && partner=ENSP00000342087;symbol=FHIT;score=.799 && partner=ENSP00000302111;symbol=MGMT;score=.744 && partner=ENSP00000365764;symbol=;score=.738 && partner=ENSP00000285021;symbol=XPC;score=.789 && partner=ENSP00000013807;symbol=ERCC1;score=.904 && partner=ENSP00000357643;symbol=MKI67;score=.765 && partner=ENSP00000055077;symbol=RFC2;score=.793 && partner=ENSP00000265849;symbol=PMS2;score=.983 && partner=ENSP00000265195;symbol=SIL1;score=.748 && partner=ENSP00000275546;symbol=;score=.761 && partner=ENSP00000365275;symbol=;score=.777 && partner=ENSP00000351284;symbol=RAD52;score=.873 && partner=ENSP00000253727;symbol=NR1H2;score=.726 && partner=ENSP00000368100;symbol=RAD50;score=.983 && partner=ENSP00000361310;symbol=POLH;score=.789 && partner=ENSP00000352239;symbol=MUTYH;score=.926 && partner=ENSP00000229335;symbol=AICDA;score=.834 && partner=ENSP00000310520;symbol=ERCC4;score=.835 && partner=ENSP00000374163;symbol=;score=.978 && partner=ENSP00000351905;symbol=TGFBR2;score=.848 && partner=ENSP00000278916;symbol=CHEK1;score=.973 && partner=ENSP00000288602;symbol=BRAF;score=.835 && partner=ENSP00000371321;symbol=RFC1;score=.899 && partner=ENSP00000350283;symbol=BRCA1;score=.997 && partner=ENSP00000265433;symbol=NBN;score=.898 && partner=ENSP00000343888;symbol=PMS1;score=.901 && partner=ENSP00000368438;symbol=PCNA;score=.999 && partner=ENSP00000369497;symbol=BRCA2;score=.817 && partner=ENSP00000323421;symbol=SMC1A;score=.813 && partner=ENSP00000372088;symbol=RAD51;score=.833 && partner=ENSP00000368960;symbol=;score=.744 && partner=ENSP00000296273;symbol=RFC4;score=.708 && partner=ENSP00000367207;symbol=MYC;score=.96 && partner=ENSP00000347232;symbol=BLM;score=.745 && partner=ENSP00000306561;symbol=OGG1;score=.898 && partner=ENSP00000311873;symbol=EXO1;score=.999 && partner=ENSP00000372023;symbol=CHEK2;score=.996 && partner=ENSP00000325863;symbol=MRE11A;score=.931 && partner=ENSP00000221481;symbol=ERCC2;score=.895 && partner=ENSP00000284165;symbol=MAX;score=.938 && partner=ENSP00000351015;symbol=NF1;score=.78 && partner=ENSP00000262266;symbol=POLD1;score=.774 && partner=ENSP00000293288;symbol=BAX;score=.706 && partner=ENSP00000324856;symbol=STK11;score=.742 && partner=ENSP00000339250;symbol=DPPA3;score=.704 GeneCard: NBN   nibrin (GC08M091015; Chromosome 8:91,014,740-91,066,075) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50 and MRE11A (By similarity). Interacts with histone H2AFX this requires phosphorylation of H2AFX on 'Ser-139'. Interacts with HJURP, KPNA2 and TERF2SWISSPROT: NBN | |GENE: NBN| [754 amino acids; 84959 D] | O60934 |FUNCTION: Component of the MRE11/RAD50/NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability|SUBUNIT: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50 and MRE11A (By similarity). Interacts with histone H2AFX this requires phosphorylation of H2AFX on 'Ser-139'. Interacts with HJURP, KPNA2 and TERF2|INTERACTION: P24864:CCNE1; NbExp=1; IntAct=EBI-494844, EBI-519526; P16104:H2AFX; NbExp=6; IntAct=EBI-494844, EBI-494830; Q14676:MDC1; NbExp=2; IntAct=EBI-494844, EBI-495644; P49959:MRE11A; NbExp=1; IntAct=EBI-494844, EBI-396513; |SUBCELLULAR LOCATION: Nucleus (By similarity). Telomere (By similarity). Note=Localizes to discrete nuclear foci after treatment with genotoxic agents (By similarity)|TISSUE SPECIFICITY: Ubiquitous. Expressed at high levels in testis|DOMAIN: The FHA and BRCT domains are likely to have a crucial role for both binding to histone H2AFX and for relocalization of MRE11/RAD50 complex to the vicinity of DNA damage|DOMAIN: The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclear localization of the MRN complex|DOMAIN: The EEXXXDDL motif at the C-terminus is required for the interaction with ATM and its recruitment to sites of DNA damage and promote the phosphorylation of ATM substrates, leading to the events of DNA damage response|PTM: Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase checkpoint control and telomere maintenance|DISEASE: Defects in NBN are the cause of Nijmegen breakage syndrome (NBS) [MIM:251260]. NBS is an autosomal recessive syndrome characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies|DISEASE: Defects in NBN are a cause of genetic susceptibility to breast cancer (BC) [MIM:114480]. BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer|DISEASE: Defects in NBN may be associated with aplastic anemia [MIM:609135]. Aplastic anemia is a disease of bone-marrow failure characterized by peripheral pancytopenia and marrow hypoplasia. Most of the cases of aplastic anemia are idiopathic, some are familial and some are due to a viral infection or to exposure to chemicals and radiation|DISEASE: Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL)|MISCELLANEOUS: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells|SIMILARITY: Contains 1 BRCT domain|SIMILARITY: Contains 1 FHA domain|SEQUENCE CAUTION: Sequence=AAI08651.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 550; |WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NBS1ID160.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=NBN";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nbs1/"; |SECONDARY ACCESSIONS: B2R626 O60672 Q32NF7 Q53FM6 Q63HR6 Q7LDM2 |RECOMMENDED_NAME: Nibrin && minedVia: UniProt - LITERATURE: BLM is an early responder to DNA double-strand breaks. . . . - STRING: ensp: ENSP00000265433 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.933 && partner=ENSP00000269305;symbol=TP53;score=.8 && partner=ENSP00000310449;symbol=;score=.908 && partner=ENSP00000303706;symbol=CDC25A;score=.832 && partner=ENSP00000234420;symbol=MSH6;score=.935 && partner=ENSP00000354024;symbol=RBBP8;score=.953 && partner=ENSP00000316769;symbol=RARA;score=.721 && partner=ENSP00000364310;symbol=H2AFX;score=.999 && partner=ENSP00000312652;symbol=LEP;score=.8 && partner=ENSP00000281043;symbol=MYCN;score=.82 && partner=ENSP00000264281;symbol=SUMO1;score=.736 && partner=ENSP00000368100;symbol=RAD50;score=.999 && partner=ENSP00000268058;symbol=PML;score=.825 && partner=ENSP00000374163;symbol=;score=.999 && partner=ENSP00000254942;symbol=TERF2;score=.962 && partner=ENSP00000343023;symbol=SP100;score=.882 && partner=ENSP00000368526;symbol=ISG20;score=.779 && partner=ENSP00000313420;symbol=PRKDC;score=.749 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000342924;symbol=MCPH1;score=.831 && partner=ENSP00000323421;symbol=SMC1A;score=.893 && partner=ENSP00000342011;symbol=XRCC4;score=.804 && partner=ENSP00000287647;symbol=FANCD2;score=.918 && partner=ENSP00000347232;symbol=BLM;score=.865 && partner=ENSP00000356438;symbol=PTGS2;score=.8 && partner=ENSP00000300086;symbol=TERF2IP;score=.904 && partner=ENSP00000372023;symbol=CHEK2;score=.977 && partner=ENSP00000233146;symbol=MSH2;score=.898 && partner=ENSP00000372879;symbol=ENSG00000206385;score=.952 && partner=ENSP00000325863;symbol=MRE11A;score=.999 && partner=ENSP00000260947;symbol=BARD1;score=.922 && partner=ENSP00000367527;symbol=DCLRE1C;score=.706 && partner=ENSP00000293233;symbol=;score=.712 && partner=ENSP00000329528;symbol=XRCC5;score=.784 GeneCard: RECQL   RecQ protein-like (DNA helicase Q1-like) (GC12M021513; Chromosome 12:21,513,965-21,548,782) The following 3 records in the GeneCard text contribute to matching your query: - LITERATURE: The Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities. . . . - ENSEMBL: ens_id: ENSG00000004700 | Contig: | Start: 21513983 | End: 21548782 | sp_id: RECQ1_HUMAN | embl_id: | OMIM: 600537 | Refseq: NM_002907.3|NM_032941.2 | PDB: | sptrembl_id: A8K6G2|A8MUG3 | go_id: ATP binding|ATP-dependent DNA helicase activity|ATP-dependent helicase activity|DNA binding|DNA recombination|DNA repair|helicase activity|hydrolase activity|nucleic acid binding|nucleotide binding|nucleus|protein binding | band: 12p12.1 | ens_protid: ENSP00000379400|ENSP00000318727 | ens_transcriptid: ENST00000396093|ENST00000314748 | paralogs: ens_id=ENSG00000165392;symbol=WRN; , ens_id=ENSG00000197299;symbol=BLM; - SGD: Organism=Sc|Symbol=SGS1(YMR190C)|Location=13 645257..640914|Description=Nucleolar DNA helicase of the RecQ family involved in genome integrity maintenance; regulates chromosome synapsis and meiotic joint molecule/crossover formation; similar to human BLM and WRN proteins implicated in Bloom and Werner syndromes|EntrezGene=855228|GenBank=|Protein=NP_013915.1|EnsProtId=ENSP00000318727|Evalue=1.0e-109|PercentAlignment=37.2 GeneCard: RPA1   replication protein A1, 70kDa (GC17P001680; Chromosome 17:1,680,095-1,748,120) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: INTERACTION: P54132:BLM; NbExp=1; IntAct=EBI-621389, EBI-621372; P04637:TP53; NbExp=1; IntAct=EBI-621389, EBI-366083; Q14191:WRN; NbExp=4; IntAct=EBI-621389, EBI-368417; SWISSPROT: RFA1 | |GENE: RPA1| [616 amino acids; 68138 D] | P27694 |FUNCTION: It participates in a very early step in initiation. RP-A is a single-stranded DNA-binding protein. Absolutely required for simian virus 40 DNA replication in vitro|SUBUNIT: Heterotrimer of 70, 32 and 14 kDa chains. The DNA-binding activity may reside exclusively on the 70 kDa subunit. Interacts with RIP and XPA. Interacts with RPA4|INTERACTION: P54132:BLM; NbExp=1; IntAct=EBI-621389, EBI-621372; P04637:TP53; NbExp=1; IntAct=EBI-621389, EBI-366083; Q14191:WRN; NbExp=4; IntAct=EBI-621389, EBI-368417; |SUBCELLULAR LOCATION: Nucleus|PTM: Phosphorylated upon DNA damage, probably by ATM or ATR|SIMILARITY: Belongs to the replication factor A protein 1 family|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rpa1/"; |PDB: 1EWI; 1FGU; 1JMC; 1L1O; 2B29; 2B3G; |SECONDARY ACCESSIONS: Q59ES9 |RECOMMENDED_NAME: Replication protein A 70 kDa DNA-binding subunit && minedVia: UniProt - LITERATURE: BLM helicase measures DNA unwound before switching strands and hRPA promotes unwinding reinitiation. . . . - GENATLAS: biochem: replication protein A,subunit 1,component 70kDa of a trimeric single strand binding protein,involved in replication,homologous recombination and nucleotide excision repair,colocalizing with RAD51 on synapsed axes in meiosis and facilitating RAD51 function,also colocalizing with BLM in meiotic prophase of prophase nuclei of spermatocytes | disease: GeneCard: TERF1   telomeric repeat binding factor (NIMA-interacting) 1 (GC08P074083; Chromosome 8:74,083,661-74,122,281) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: INTERACTION: Self; NbExp=1; IntAct=EBI-711018, EBI-711018; P00519:ABL1; NbExp=1; IntAct=EBI-711018, EBI-375543; Q13315:ATM; NbExp=4; IntAct=EBI-711018, EBI-495465; Q13315:ATM; NbExp=1; IntAct=EBI-711014, EBI-495465; Q13315:ATM; NbExp=1; IntAct=EBI-710997, EBI-495465; P54132:BLM; NbExp=2; IntAct=EBI-710997, EBI-621372; Q9UKT5-1:FBXO4; NbExp=2; IntAct=EBI-710997, EBI-960421; Q9UKT5-1:FBXO4; NbExp=1; IntAct=EBI-711014, EBI-960421; Q9UKT5-1:FBXO4; NbExp=2; IntAct=EBI-711018, EBI-960421; Q15691:MAPRE1; NbExp=1; IntAct=EBI-711018, EBI-1004115; Q15691:MAPRE1; NbExp=2; IntAct=EBI-710997, EBI-1004115; P54274-1:TERF1; NbExp=1; IntAct=EBI-711018, EBI-711014; P54274-2:TERF1; NbExp=1; IntAct=EBI-711014, EBI-711018; Q9BSI4-3:TINF2; NbExp=1; IntAct=EBI-710997, EBI-717418; Q9H2D6-5:TRIOBP; NbExp=1; IntAct=EBI-710997, EBI-1023227; SWISSPROT: TERF1 | |GENE: TERF1| [439 amino acids; 50246 D] | P54274 |FUNCTION: Binds the telomeric double-stranded TTAGGG repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways|SUBUNIT: Homodimer; can contain both isoforms. Found in a complex with POT1; TINF2 and TNKS1. Interacts with ATM, TINF2, TNKS1, TNKS2, PINX1, NEK2 and MAPRE1. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1|INTERACTION: Self; NbExp=1; IntAct=EBI-711018, EBI-711018; P00519:ABL1; NbExp=1; IntAct=EBI-711018, EBI-375543; Q13315:ATM; NbExp=4; IntAct=EBI-711018, EBI-495465; Q13315:ATM; NbExp=1; IntAct=EBI-711014, EBI-495465; Q13315:ATM; NbExp=1; IntAct=EBI-710997, EBI-495465; P54132:BLM; NbExp=2; IntAct=EBI-710997, EBI-621372; Q9UKT5-1:FBXO4; NbExp=2; IntAct=EBI-710997, EBI-960421; Q9UKT5-1:FBXO4; NbExp=1; IntAct=EBI-711014, EBI-960421; Q9UKT5-1:FBXO4; NbExp=2; IntAct=EBI-711018, EBI-960421; Q15691:MAPRE1; NbExp=1; IntAct=EBI-711018, EBI-1004115; Q15691:MAPRE1; NbExp=2; IntAct=EBI-710997, EBI-1004115; P54274-1:TERF1; NbExp=1; IntAct=EBI-711018, EBI-711014; P54274-2:TERF1; NbExp=1; IntAct=EBI-711014, EBI-711018; Q9BSI4-3:TINF2; NbExp=1; IntAct=EBI-710997, EBI-717418; Q9H2D6-5:TRIOBP; NbExp=1; IntAct=EBI-710997, EBI-1023227; |SUBCELLULAR LOCATION: Nucleus. Spindle. Telomere. Note=Colocalizes with telomeric DNA in interphase and metaphase cells and is located at chromosome ends during metaphase. Associates with the mitotic spindle|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=TRF1; IsoId=P54274-1; Sequence=Displayed; Name=2; Synonyms=Pin2; IsoId=P54274-2; Sequence=VSP_003303; |TISSUE SPECIFICITY: Highly expressed and ubiquitous. Isoform Pin2 predominates|INDUCTION: Pin2 expression is tightly regulated during the cell cycle; levels are low in G1 and S phase and increase during G2 phase and mitosis|DOMAIN: The acidic N-terminal domain binds to the ankyrin repeats of TNKS1 and TNKS2. The C-terminal domain binds microtubules|PTM: Phosphorylated preferentially on Ser-219 in an ATM-dependent manner in response to ionizing DNA damage|PTM: ADP-ribosylation by TNKS1 or TNKS2 diminishes its ability to bind to telomeric DNA|SIMILARITY: Contains 1 HTH myb-type DNA-binding domain|WEB RESOURCE: Name=NIEHS SNPs; URL="http://egp.gs.washington.edu/data/terf1/"; |PDB: 1BA5; 1H6O; 1ITY; 1IV6; 1W0T; 3BQO; |SECONDARY ACCESSIONS: A7XP29 Q15553 Q8NHT6 Q93029 |RECOMMENDED_NAME: Telomeric repeat-binding factor 1 && minedVia: UniProt - LITERATURE: Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2. . . . - STRING: ensp: ENSP00000276603 | interactions: partner=ENSP00000318966;symbol=ENSG00000104637;score=.996 && partner=ENSP00000308908;symbol=GPR148;score=.749 && partner=ENSP00000219251;symbol=ACD;score=.998 && partner=ENSP00000340312;symbol=TRIOBP;score=.935 && partner=ENSP00000311579;symbol=TNKS;score=.999 && partner=ENSP00000330813;symbol=BRAP;score=.844 && partner=ENSP00000355759;symbol=PARP1;score=.82 && partner=ENSP00000300093;symbol=PLK1;score=.858 && partner=ENSP00000358576;symbol=DCLRE1B;score=.922 && partner=ENSP00000356602;symbol=VTA1;score=.901 && partner=ENSP00000358563;symbol=DKC1;score=.83 && partner=ENSP00000309572;symbol=TERT;score=.886 && partner=ENSP00000368100;symbol=RAD50;score=.781 && partner=ENSP00000374163;symbol=;score=.995 && partner=ENSP00000254942;symbol=TERF2;score=.923 && partner=ENSP00000265709;symbol=ANK1;score=.944 && partner=ENSP00000290158;symbol=KPNB1;score=.732 && partner=ENSP00000368793;symbol=MTRF1;score=.71 && partner=ENSP00000364721;symbol=MAPRE1;score=.872 && partner=ENSP00000263073;symbol=SMG6;score=.749 && partner=ENSP00000372689;symbol=STAG1;score=.733 && partner=ENSP00000339992;symbol=MYB;score=.849 && partner=ENSP00000267415;symbol=TINF2;score=.999 && partner=ENSP00000251020;symbol=SALL1;score=.737 && partner=ENSP00000347232;symbol=BLM;score=.888 && partner=ENSP00000300086;symbol=TERF2IP;score=.979 && partner=ENSP00000325863;symbol=MRE11A;score=.773 && partner=ENSP00000360689;symbol=TNKS2;score=.995 && partner=ENSP00000321326;symbol=F2R;score=.712 && partner=ENSP00000371053;symbol=;score=.934 && partner=ENSP00000294610;symbol=;score=.716 && partner=ENSP00000358153;symbol=HIST2H4B;score=.899 && partner=ENSP00000365572;symbol=NME2;score=.872 && partner=ENSP00000305353;symbol=;score=.899 && partner=ENSP00000350249;symbol=POT1;score=.998 GeneCard: TERF2   telomeric repeat binding factor 2 (GC16M067947; Chromosome 16:67,947,032-67,977,374) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: INTERACTION: P54132:BLM; NbExp=5; IntAct=EBI-706637, EBI-621372; Q9BSI4-3:TINF2; NbExp=1; IntAct=EBI-706637, EBI-717418; Q14191:WRN; NbExp=4; IntAct=EBI-706637, EBI-368417; SWISSPROT: TERF2 | |GENE: TERF2| [500 amino acids; 55551 D] | Q15554 |FUNCTION: Binds the telomeric double-stranded TTAGGG repeat. Protects against end-to-end fusion of chromosomes and plays a role in successful progression through the cell division cycle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways|SUBUNIT: Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Binds to RAP1. Interacts with NBN|INTERACTION: P54132:BLM; NbExp=5; IntAct=EBI-706637, EBI-621372; Q9BSI4-3:TINF2; NbExp=1; IntAct=EBI-706637, EBI-717418; Q14191:WRN; NbExp=4; IntAct=EBI-706637, EBI-368417; |SUBCELLULAR LOCATION: Nucleus. Telomere. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15554-1; Sequence=Displayed; Name=2; IsoId=Q15554-2; Sequence=VSP_003304, VSP_003305; Note=No experimental confirmation available; |TISSUE SPECIFICITY: Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes|PTM: Phosphorylated upon DNA damage, probably by ATM or ATR|SIMILARITY: Contains 1 HTH myb-type DNA-binding domain |PDB: 1H6P; 1VF9; 1VFC; 1W0U; 1XG1; 3BU8; 3BUA; |RECOMMENDED_NAME: Telomeric repeat-binding factor 2 && minedVia: UniProt - LITERATURE: Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2. . . . - STRING: ensp: ENSP00000254942 | interactions: partner=ENSP00000318966;symbol=ENSG00000104637;score=.927 && partner=ENSP00000310520;symbol=ERCC4;score=.704 && partner=ENSP00000268058;symbol=PML;score=.743 && partner=ENSP00000374163;symbol=;score=.989 && partner=ENSP00000308908;symbol=GPR148;score=.758 && partner=ENSP00000276603;symbol=TERF1;score=.923 && partner=ENSP00000219251;symbol=ACD;score=.997 && partner=ENSP00000313420;symbol=PRKDC;score=.737 && partner=ENSP00000250416;symbol=PARP2;score=.913 && partner=ENSP00000353166;symbol=;score=.726 && partner=ENSP00000311579;symbol=TNKS;score=.987 && partner=ENSP00000263073;symbol=SMG6;score=.758 && partner=ENSP00000265433;symbol=NBN;score=.962 && partner=ENSP00000339992;symbol=MYB;score=.742 && partner=ENSP00000267415;symbol=TINF2;score=.999 && partner=ENSP00000298139;symbol=WRN;score=.986 && partner=ENSP00000347232;symbol=BLM;score=.987 && partner=ENSP00000358576;symbol=DCLRE1B;score=.979 && partner=ENSP00000352257;symbol=XRCC6;score=.965 && partner=ENSP00000300086;symbol=TERF2IP;score=.999 && partner=ENSP00000325863;symbol=MRE11A;score=.981 && partner=ENSP00000371479;symbol=;score=.709 && partner=ENSP00000358153;symbol=HIST2H4B;score=.899 && partner=ENSP00000309572;symbol=TERT;score=.873 && partner=ENSP00000305353;symbol=;score=.899 && partner=ENSP00000329528;symbol=XRCC5;score=.832 && partner=ENSP00000368100;symbol=RAD50;score=.995 && partner=ENSP00000350249;symbol=POT1;score=.998 GeneCard: TOP3A   topoisomerase (DNA) III alpha (GC17M018117; Chromosome 17:18,117,960-18,159,046) The following 3 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Directly interacts with BLM and RMI1. Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLMSWISSPROT: TOP3A | EC 5.99.1.2 |GENE: TOP3A| [1001 amino acids; 112372 D] | Q13472 |FUNCTION: Reduces the number of supercoils in a highly negatively supercoiled DNA. Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells|CATALYTIC ACTIVITY: ATP-independent breakage of single-stranded DNA, followed by passage and rejoining|SUBUNIT: Directly interacts with BLM and RMI1. Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q13472-1; Sequence=Displayed; Name=Short; IsoId=Q13472-2; Sequence=VSP_006524; |TISSUE SPECIFICITY: High expression is found in testis, heart, skeletal muscle and pancreas|SIMILARITY: Belongs to the prokaryotic type I/III topoisomerase family |SECONDARY ACCESSIONS: Q13473 |RECOMMENDED_NAME: DNA topoisomerase 3-alpha && minedVia: UniProt - LITERATURE: Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. . . . - ENTREZGENE: chr=17 | contig= | cytoLoc=17p12-p11.2 | dbXrefs=HGNC:11992,MIM:601243,Ensembl:ENSG00000177302,HPRD:03145 | egHugo= | egId=7156 | end=18159046 | geneName=topoisomerase (DNA) III alpha | genomicNucAcc=AC127537.8 AF026813.1 CH471196.2 AC_000060.1 AC_000149.1 NC_000017.9 NT_010718.15 NW_001838410.2 NW_926628.1 | go=GO:0016605 GO:0005634 GO:0003917 GO:0006268 GO:0005694 GO:0046872 GO:0005515 GO:0007126 GO:0008270 GO:0006265 | protAcc=EAW55646.1 EAW55647.1 EAW55648.1 EAW55649.1 Q13472.1 BAG54385.1 BAF83202.1 BAF85615.1 BAG59092.1 BAG61652.1 AAH51748.1 AAB03694.1 AAB03695.1 NP_004609.1 | proteinAliases=topo III-alpha | refseq=NM_004618.3(REVIEWED) | rnaNucAcc=AF086042.1 AK126869.1 AK290513.1 AK292926.1 AK296437.1 AK299764.1 AK311668.1 BC051748.1 BM462184.1 CR593799.1 U43431.1 NM_004618.3 | start=18117960 | status=O | summary=This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq] | symbol=TOP3A | synonyms=TOP3 | type=protein-coding GeneCard: ATM   ataxia telangiectasia mutated (GC11P107599; Chromosome 11:107,598,769-107,745,036) The following 2 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active. Binds DNA ends, p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. DNA damage promotes association with RAD17. Interacts with EEF1E1; the interaction, induced on DNA damage, upregulates TP53. Interacts with DCLRE1C, MYST1, HTATIP, OBFC2B, ATMIN and CEP164. Interacts with the beta-adaptin complex subunits, AP2B1 AND AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity)SWISSPROT: ATM | EC 2.7.11.1 |GENE: ATM| [3056 amino acids; 350644 D] | Q13315 |FUNCTION: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function|CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein|ENZYME REGULATION: Inhibited by wortmannin|SUBUNIT: Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active. Binds DNA ends, p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. DNA damage promotes association with RAD17. Interacts with EEF1E1; the interaction, induced on DNA damage, upregulates TP53. Interacts with DCLRE1C, MYST1, HTATIP, OBFC2B, ATMIN and CEP164. Interacts with the beta-adaptin complex subunits, AP2B1 AND AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity)|INTERACTION: Q9NY61:AATF; NbExp=2; IntAct=EBI-495465, EBI-372428; P00519:ABL1; NbExp=1; IntAct=EBI-495465, EBI-375543; Q14676:MDC1; NbExp=1; IntAct=EBI-495465, EBI-495644; Q9BQ15:OBFC2B; NbExp=3; IntAct=EBI-495465, EBI-2120336; P62136:PPP1CA; NbExp=1; IntAct=EBI-495465, EBI-357253; P36873-1:PPP1CC; NbExp=1; IntAct=EBI-495465, EBI-356289; Q14683:SMC1A; NbExp=1; IntAct=EBI-495465, EBI-80690; Q9Y4R8:TELO2; NbExp=1; IntAct=EBI-495465, EBI-1043674; P54274:TERF1; NbExp=1; IntAct=EBI-495465, EBI-710997; P54274-1:TERF1; NbExp=1; IntAct=EBI-495465, EBI-711014; P54274-2:TERF1; NbExp=4; IntAct=EBI-495465, EBI-711018; P02340:Tp53 (xeno); NbExp=1; IntAct=EBI-495465, EBI-474016; |SUBCELLULAR LOCATION: Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin|TISSUE SPECIFICITY: Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes|INDUCTION: By ionizing radiation|DOMAIN: The FATC domain is required for interaction with HTATIP|PTM: Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1983, Ser-1981 correlates with DNA damage-mediated activation of the kinase|PTM: Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981. Acetylated in vitro by HTATIP/TIP60|DISEASE: Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900]; also known as Louis-Bar syndrome, which includes four complementation groups: A, C, D and E. This rare recessive disorder is characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. AT patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation|DISEASE: Defects in ATM contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients|DISEASE: Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL)|DISEASE: Defects in ATM contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure|SIMILARITY: Belongs to the PI3/PI4-kinase family. ATM subfamily|SIMILARITY: Contains 1 FAT domain|SIMILARITY: Contains 1 FATC domain|SIMILARITY: Contains 1 PI3K/PI4K domain|WEB RESOURCE: Name=Ataxia talangiectasia mutation db; URL="http://benaroyaresearch.org/investigators/concannon_patrick/atm.htm";|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ATM123.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=ATM";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/atm/";|WEB RESOURCE: Name=Wikipedia; Note=Ataxia telangiectasia mutated entry; URL="http://en.wikipedia.org/wiki/Ataxia_telangiectasia_mutated"; |SECONDARY ACCESSIONS: O15429 Q12758 Q16551 Q93007 Q9NP02 Q9UCX7 |RECOMMENDED_NAME: Serine-protein kinase ATM && minedVia: UniProt - LITERATURE: ATR and ATM-dependent movement of BLM helicase during replication stress ensures optimal ATM activation and 53BP1 focus formation. . . . GeneCard: BRCA1   breast cancer 1, early onset (GC17M038450; Chromosome 17:38,449,840-38,530,994) The following 2 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and MERIT40/NBA1. Interacts (via BRCT domains) with FAM175A/Abraxas and RBBP8. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A and COBRA1/NELFB. Interacts (via BRCT domains) with BRIP1. Interacts with FANCD2 (ubiquitinated). Interacts with BAP1. Interacts with DCLRE1C/Artemis and CLSPN. Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts with CHEK1/CHK1. Interacts with BRCC3. Interacts (via BRCT domains) with ACACA (phosphorylated); the interaction prevents dephosphorylation of ACACASWISSPROT: BRCA1 | EC 6.3.2.- |GENE: BRCA1| [1863 amino acids; 207721 D] | P38398 |FUNCTION: The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation|PATHWAY: Protein modification; protein ubiquitination|SUBUNIT: Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and MERIT40/NBA1. Interacts (via BRCT domains) with FAM175A/Abraxas and RBBP8. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A and COBRA1/NELFB. Interacts (via BRCT domains) with BRIP1. Interacts with FANCD2 (ubiquitinated). Interacts with BAP1. Interacts with DCLRE1C/Artemis and CLSPN. Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts with CHEK1/CHK1. Interacts with BRCC3. Interacts (via BRCT domains) with ACACA (phosphorylated); the interaction prevents dephosphorylation of ACACA|INTERACTION: Self; NbExp=1; IntAct=EBI-349905, EBI-349905; Q13085:ACACA; NbExp=2; IntAct=EBI-349905, EBI-717681; O14867:BACH1; NbExp=1; IntAct=EBI-349905, EBI-1263541; Q92560:BAP1; NbExp=1; IntAct=EBI-349905, EBI-1791447; Q92560:BAP1; NbExp=1; IntAct=EBI-2015072, EBI-1791447; Q99PU7:Bap1 (xeno); NbExp=2; IntAct=EBI-349905, EBI-1791471; Q99728:BARD1; NbExp=5; IntAct=EBI-349905, EBI-473181; Q7Z569:BRAP; NbExp=1; IntAct=EBI-349905, EBI-349900; P24385:CCND1; NbExp=2; IntAct=EBI-349905, EBI-375001; P24864:CCNE1; NbExp=2; IntAct=EBI-349905, EBI-519526; O14757:CHEK1; NbExp=1; IntAct=EBI-349905, EBI-974488; Q8WX92:COBRA1; NbExp=3; IntAct=EBI-349905, EBI-347721; P03372:ESR1; NbExp=4; IntAct=EBI-349905, EBI-78473; Q6UWZ7:FAM175A; NbExp=4; IntAct=EBI-349905, EBI-1263451; P16104:H2AFX; NbExp=1; IntAct=EBI-349905, EBI-494830; P52292:KPNA2; NbExp=1; IntAct=EBI-349905, EBI-349938; Q14676:MDC1; NbExp=1; IntAct=EBI-349905, EBI-495644; P16333:NCK1; NbExp=1; IntAct=EBI-349905, EBI-389883; Q9UBD5:ORC3L; NbExp=1; IntAct=EBI-349905, EBI-374916; P27986:PIK3R1; NbExp=1; IntAct=EBI-349905, EBI-79464; P62136:PPP1CA; NbExp=2; IntAct=EBI-349905, EBI-357253; P62140:PPP1CB; NbExp=2; IntAct=EBI-349905, EBI-352350; P36873:PPP1CC; NbExp=2; IntAct=EBI-349905, EBI-356283; Q99708:RBBP8; NbExp=5; IntAct=EBI-349905, EBI-1263531; Q14683:SMC1A; NbExp=1; IntAct=EBI-349905, EBI-80690; Q12888:TP53BP1; NbExp=1; IntAct=EBI-349905, EBI-396540; Q9Y4A5:TRRAP; NbExp=2; IntAct=EBI-349905, EBI-399128; Q96RL1:UIMC1; NbExp=4; IntAct=EBI-349905, EBI-725300; Q6NZY4:ZCCHC8; NbExp=2; IntAct=EBI-349905, EBI-1263058; Q9GZX5:ZNF350; NbExp=2; IntAct=EBI-349905, EBI-396421; |SUBCELLULAR LOCATION: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex|SUBCELLULAR LOCATION: Isoform 3: Cytoplasm|SUBCELLULAR LOCATION: Isoform 5: Cytoplasm|ALTERNATIVE PRODUCTS: Event=Alternative splicing, Alternative initiation; Named isoforms=5; Name=1; IsoId=P38398-1; Sequence=Displayed; Name=2; IsoId=P38398-2; Sequence=VSP_035397; Name=3; Synonyms=Delta11b; IsoId=P38398-3; Sequence=VSP_035399; Name=4; Synonyms=DeltaBRCA1(17aa); IsoId=P38398-4; Sequence=VSP_035396; Note=Produced by alternative initiation at Met-18 of isoform 1; Name=5; Synonyms=Delta11, Delta772-3095; IsoId=P38398-5; Sequence=VSP_035398; |TISSUE SPECIFICITY: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines|DOMAIN: The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites|DOMAIN: The RING-type zinc finger domain interacts with BAP1|PTM: Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or ATR|POLYMORPHISM: There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be associated with an increased risk for developing ovarian cancer|DISEASE: Defects in BRCA1 are a cause of genetic susceptibility to breast cancer (BC) [MIM:113705, 114480]. BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination|DISEASE: Defects in BRCA1 are a cause of susceptibility to familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer|DISEASE: Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer [MIM:113705]|SIMILARITY: Contains 2 BRCT domains|SIMILARITY: Contains 1 RING-type zinc finger|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BRCA1ID163ch17q21.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=BRCA1";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/brca1/";|WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=BRCA1";|WEB RESOURCE: Name=Wikipedia; Note=BRCA1 entry; URL="http://en.wikipedia.org/wiki/BRCA1"; |PDB: 1JM7; 1JNX; 1N5O; 1OQA; 1T15; 1T29; 1T2U; 1T2V; 1Y98; 2ING; 3COJ; |SECONDARY ACCESSIONS: O15129 Q7KYU9 |RECOMMENDED_NAME: Breast cancer type 1 susceptibility protein && minedVia: UniProt - STRING: ensp: ENSP00000350283 | interactions: partner=ENSP00000357621;symbol=HDAC2;score=.768 && partner=ENSP00000265773;symbol=SMARCA2;score=.773 && partner=ENSP00000274827;symbol=UIMC1;score=.997 && partner=ENSP00000332455;symbol=KPNA2;score=.907 && partner=ENSP00000311508;symbol=RELA;score=.832 && partner=ENSP00000306245;symbol=FOS;score=.863 && partner=ENSP00000361021;symbol=PTEN;score=.921 && partner=ENSP00000296288;symbol=BAP1;score=.752 && partner=ENSP00000374857;symbol=IGLC3;score=.899 && partner=ENSP00000324173;symbol=HSPA5;score=.813 && partner=ENSP00000294423;symbol=;score=.953 && partner=ENSP00000298139;symbol=WRN;score=.96 && partner=ENSP00000232165;symbol=UBE3A;score=.7 && partner=ENSP00000355759;symbol=PARP1;score=.816 && partner=ENSP00000285021;symbol=XPC;score=.773 && partner=ENSP00000373962;symbol=LOC727732;score=.873 && partner=ENSP00000372583;symbol=;score=.995 && partner=ENSP00000261584;symbol=PALB2;score=.948 && partner=ENSP00000226574;symbol=NFKB1;score=.834 && partner=ENSP00000349571;symbol=LMO7;score=.899 && partner=ENSP00000352323;symbol=RASSF1;score=.732 && partner=ENSP00000265849;symbol=PMS2;score=.719 && partner=ENSP00000236996;symbol=CREB1;score=.872 && partner=ENSP00000258149;symbol=MDM2;score=.765 && partner=ENSP00000371795;symbol=FBXL5;score=.899 && partner=ENSP00000351284;symbol=RAD52;score=.907 && partner=ENSP00000302051;symbol=ECEL1;score=.894 && partner=ENSP00000251413;symbol=TUBG1;score=.873 && partner=ENSP00000374300;symbol=;score=.744 && partner=ENSP00000310520;symbol=ERCC4;score=.712 && partner=ENSP00000282892;symbol=MED21;score=.766 && partner=ENSP00000361099;symbol=;score=.853 && partner=ENSP00000269571;symbol=ERBB2;score=.897 && partner=ENSP00000262238;symbol=YY1;score=.713 && partner=ENSP00000367211;symbol=SUGT1;score=.899 && partner=ENSP00000368459;symbol=NUFIP1;score=.948 && partner=ENSP00000251871;symbol=MED17;score=.955 && partner=ENSP00000302523;symbol=;score=.824 && partner=ENSP00000323421;symbol=SMC1A;score=.939 && partner=ENSP00000297158;symbol=FBXL21;score=.899 && partner=ENSP00000359977;symbol=FBXO9;score=.899 && partner=ENSP00000310700;symbol=;score=.982 && partner=ENSP00000347367;symbol=;score=.899 && partner=ENSP00000267430;symbol=FANCM;score=.76 && partner=ENSP00000283645;symbol=TUBGCP5;score=.899 && partner=ENSP00000252818;symbol=JUND;score=.709 && partner=ENSP00000242057;symbol=AHR;score=.884 && partner=ENSP00000351015;symbol=NF1;score=.923 && partner=ENSP00000260947;symbol=BARD1;score=.999 && partner=ENSP00000371053;symbol=;score=.899 && partner=ENSP00000359573;symbol=LMO4;score=.826 && partner=ENSP00000299218;symbol=CAND1;score=.899 && partner=ENSP00000269577;symbol=TOP2A;score=.898 && partner=ENSP00000362768;symbol=RBL1;score=.95 && partner=ENSP00000344259;symbol=UBE2L3;score=.974 && partner=ENSP00000328187;symbol=FBXO21;score=.899 && partner=ENSP00000373936;symbol=;score=.929 && partner=ENSP00000269305;symbol=TP53;score=.999 && partner=ENSP00000255465;symbol=CCNA1;score=.977 && partner=ENSP00000362734;symbol=CRB2;score=.784 && partner=ENSP00000362065;symbol=;score=.897 && partner=ENSP00000359149;symbol=FBXW4;score=.899 && partner=ENSP00000339191;symbol=CAV1;score=.843 && partner=ENSP00000218157;symbol=;score=.91 && partner=ENSP00000295809;symbol=IFI16;score=.964 && partner=ENSP00000365764;symbol=;score=.9 && partner=ENSP00000362578;symbol=RNF8;score=.753 && partner=ENSP00000364310;symbol=H2AFX;score=.999 && partner=ENSP00000350720;symbol=SMARCA4;score=.993 && partner=ENSP00000349762;symbol=PCTK1;score=.718 && partner=ENSP00000302665;symbol=IGF1;score=.863 && partner=ENSP00000364454;symbol=FANCC;score=.996 && partner=ENSP00000185885;symbol=UBE2D1;score=.999 && partner=ENSP00000349445;symbol=FBXO8;score=.899 && partner=ENSP00000341551;symbol=SMAD4;score=.75 && partner=ENSP00000260383;symbol=TUBGCP4;score=.899 && partner=ENSP00000371479;symbol=;score=.999 && partner=ENSP00000206249;symbol=ESR1;score=.999 && partner=ENSP00000318212;symbol=KCNH6;score=.848 && partner=ENSP00000226004;symbol=DUSP3;score=.909 && partner=ENSP00000367009;symbol=;score=.899 && partner=ENSP00000329632;symbol=FBXL7;score=.899 && partner=ENSP00000369424;symbol=RBBP7;score=.996 && partner=ENSP00000363822;symbol=AR;score=.994 && partner=ENSP00000362317;symbol=CLSPN;score=.763 && partner=ENSP00000374163;symbol=;score=.999 && partner=ENSP00000311032;symbol=CASP3;score=.716 && partner=ENSP00000286800;symbol=BACH1;score=.913 && partner=ENSP00000313420;symbol=PRKDC;score=.723 && partner=ENSP00000315136;symbol=APBA3;score=.899 && partner=ENSP00000281321;symbol=POU4F2;score=.875 && partner=ENSP00000296223;symbol=POLR2H;score=.867 && partner=ENSP00000274026;symbol=CCNA2;score=.97 && partner=ENSP00000243914;symbol=CTCFL;score=.7 && partner=ENSP00000324404;symbol=TCHP;score=.865 && partner=ENSP00000314522;symbol=;score=.957 && partner=ENSP00000367972;symbol=ID4;score=.922 && partner=ENSP00000314949;symbol=POLR2A;score=.996 && partner=ENSP00000287647;symbol=FANCD2;score=.999 && partner=ENSP00000347232;symbol=BLM;score=.883 && partner=ENSP00000361063;symbol=;score=.91 && partner=ENSP00000256996;symbol=DDB2;score=.79 && partner=ENSP00000360397;symbol=;score=.991 && partner=ENSP00000372879;symbol=ENSG00000206385;score=.956 && partner=ENSP00000351777;symbol=VCP;score=.755 && partner=ENSP00000344789;symbol=ACACA;score=.98 && partner=ENSP00000343001;symbol=UBE4B;score=.899 && partner=ENSP00000324856;symbol=STK11;score=.801 && partner=ENSP00000321656;symbol=CDC25C;score=.826 && partner=ENSP00000259882;symbol=;score=.93 && partner=ENSP00000302159;symbol=E2F6;score=.912 && partner=ENSP00000288071;symbol=DDX19B;score=.898 && partner=ENSP00000252108;symbol=UBE4A;score=.909 && partner=ENSP00000368686;symbol=E2F4;score=.943 && partner=ENSP00000344818;symbol=UBC;score=.806 && partner=ENSP00000229769;symbol=FANCE;score=.992 && partner=ENSP00000369857;symbol=FAM175A;score=.988 && partner=ENSP00000231790;symbol=MLH1;score=.984 && partner=ENSP00000267974;symbol=NCOA2;score=.946 && partner=ENSP00000361423;symbol=ABL1;score=.943 && partner=ENSP00000257904;symbol=CDK4;score=.949 && partner=ENSP00000253754;symbol=PDLIM4;score=.84 && partner=ENSP00000303706;symbol=CDC25A;score=.944 && partner=ENSP00000339495;symbol=COBRA1;score=.994 && partner=ENSP00000329357;symbol=SP1;score=.873 && partner=ENSP00000243644;symbol=ZNF350;score=.991 && partner=ENSP00000355153;symbol=CDKN2A;score=.9 && partner=ENSP00000342087;symbol=FHIT;score=.787 && partner=ENSP00000354024;symbol=RBBP8;score=.999 && partner=ENSP00000013807;symbol=ERCC1;score=.742 && partner=ENSP00000262887;symbol=XRCC1;score=.899 && partner=ENSP00000298552;symbol=TSC1;score=.762 && partner=ENSP00000372411;symbol=CTBP1;score=.896 && partner=ENSP00000367910;symbol=FANCG;score=.996 && partner=ENSP00000342889;symbol=POLR2K;score=.81 && partner=ENSP00000252242;symbol=KRT5;score=.734 && partner=ENSP00000323099;symbol=ATRIP;score=.945 && partner=ENSP00000344266;symbol=FHL2;score=.984 && partner=ENSP00000268794;symbol=CDH1;score=.709 && partner=ENSP00000321591;symbol=AURKA;score=.974 && partner=ENSP00000365095;symbol=;score=.726 && partner=ENSP00000347978;symbol=ERCC5;score=.737 && partner=ENSP00000227507;symbol=CCND1;score=.994 && partner=ENSP00000262435;symbol=SMURF2;score=.922 && partner=ENSP00000314151;symbol=KLK3;score=.924 && partner=ENSP00000270202;symbol=AKT1;score=.982 && partner=ENSP00000368100;symbol=RAD50;score=.999 && partner=ENSP00000353695;symbol=GSTCD;score=.8 && partner=ENSP00000347834;symbol=FBXL3;score=.899 && partner=ENSP00000354394;symbol=STAT1;score=.756 && partner=ENSP00000345571;symbol=E2F1;score=.989 && partner=ENSP00000326031;symbol=PPP1CA;score=.894 && partner=ENSP00000353344;symbol=ETS2;score=.883 && partner=ENSP00000260810;symbol=TOPBP1;score=.998 && partner=ENSP00000362441;symbol=ATRX;score=.709 && partner=ENSP00000318451;symbol=SMARCD2;score=.728 && partner=ENSP00000265433;symbol=NBN;score=.999 && partner=ENSP00000368438;symbol=PCNA;score=.983 && partner=ENSP00000242719;symbol=RNF11;score=.921 && partner=ENSP00000356191;symbol=OPTC;score=.708 && partner=ENSP00000343701;symbol=KPNA1;score=.7 && partner=ENSP00000265428;symbol=WWP1;score=.909 && partner=ENSP00000341208;symbol=STAT5A;score=.937 && partner=ENSP00000233146;symbol=MSH2;score=.997 && partner=ENSP00000371067;symbol=JAK2;score=.945 && partner=ENSP00000336606;symbol=RAD54B;score=.776 && partner=ENSP00000362723;symbol=;score=.7 && partner=ENSP00000348056;symbol=UBE2I;score=.889 && partner=ENSP00000365572;symbol=NME2;score=.777 && partner=ENSP00000323822;symbol=FBXO11;score=.899 && partner=ENSP00000330875;symbol=FANCF;score=.995 && partner=ENSP00000343412;symbol=BRE;score=.842 && partner=ENSP00000372277;symbol=;score=.899 && partner=ENSP00000228872;symbol=CDKN1B;score=.939 && partner=ENSP00000325120;symbol=PGR;score=.818 && partner=ENSP00000344103;symbol=BRCC3;score=.946 && partner=ENSP00000310449;symbol=;score=.796 && partner=ENSP00000318944;symbol=TRAF7;score=.899 && partner=ENSP00000234420;symbol=MSH6;score=.997 && partner=ENSP00000369217;symbol=ARIH1;score=.899 && partner=ENSP00000330813;symbol=BRAP;score=.755 && partner=ENSP00000259008;symbol=BRIP1;score=.999 && partner=ENSP00000256443;symbol=CDK7;score=.77 && partner=ENSP00000266970;symbol=CDK2;score=.999 && partner=ENSP00000302111;symbol=MGMT;score=.725 && partner=ENSP00000365528;symbol=PTPRH;score=.853 && partner=ENSP00000373468;symbol=;score=.825 && partner=ENSP00000366184;symbol=ELK1;score=.729 && partner=ENSP00000360025;symbol=GADD45A;score=.998 && partner=ENSP00000300093;symbol=PLK1;score=.906 && partner=ENSP00000318494;symbol=UBE2D3P;score=.989 && partner=ENSP00000324578;symbol=ETS1;score=.954 && partner=ENSP00000212015;symbol=SIRT1;score=.902 && partner=ENSP00000237623;symbol=SPP1;score=.819 && partner=ENSP00000369050;symbol=CYP1A1;score=.9 && partner=ENSP00000296930;symbol=NPM1;score=.715 && partner=ENSP00000338413;symbol=UBA1;score=.999 && partner=ENSP00000241071;symbol=FBXO24;score=.899 && partner=ENSP00000263253;symbol=EP300;score=.969 && partner=ENSP00000233741;symbol=FANCL;score=.978 && partner=ENSP00000366413;symbol=POU4F1;score=.848 && partner=ENSP00000343392;symbol=XRCC3;score=.732 && partner=ENSP00000263935;symbol=KIF1B;score=.704 && partner=ENSP00000316176;symbol=UBE2N;score=.799 && partner=ENSP00000278916;symbol=CHEK1;score=.959 && partner=ENSP00000299613;symbol=WEE1;score=.846 && partner=ENSP00000371321;symbol=RFC1;score=.794 && partner=ENSP00000263201;symbol=CDC45L;score=.77 && partner=ENSP00000261520;symbol=NARG2;score=.711 && partner=ENSP00000371490;symbol=FBXO7;score=.899 && partner=ENSP00000248846;symbol=TUBGCP6;score=.899 && partner=ENSP00000196968;symbol=GSTP1;score=.738 && partner=ENSP00000369497;symbol=BRCA2;score=.999 && partner=ENSP00000259939;symbol=RNF144B;score=.909 && partner=ENSP00000372088;symbol=RAD51;score=.999 && partner=ENSP00000229971;symbol=FBXL4;score=.899 && partner=ENSP00000370233;symbol=;score=.854 && partner=ENSP00000362592;symbol=RBBP4;score=.965 && partner=ENSP00000342011;symbol=XRCC4;score=.806 && partner=ENSP00000367207;symbol=MYC;score=.999 && partner=ENSP00000268613;symbol=CDH13;score=.763 && partner=ENSP00000352257;symbol=XRCC6;score=.803 && partner=ENSP00000373952;symbol=FANCA;score=.999 && partner=ENSP00000372023;symbol=CHEK2;score=.999 && partner=ENSP00000371502;symbol=CREBBP;score=.997 && partner=ENSP00000325863;symbol=MRE11A;score=.999 && partner=ENSP00000267163;symbol=RB1;score=.994 && partner=ENSP00000262133;symbol=RBL2;score=.948 && partner=ENSP00000221481;symbol=ERCC2;score=.724 && partner=ENSP00000362649;symbol=HDAC1;score=.763 && partner=ENSP00000348283;symbol=WWP2;score=.909 && partner=ENSP00000362917;symbol=CDC2;score=.761 && partner=ENSP00000304895;symbol=IRS1;score=.867 && partner=ENSP00000265094;symbol=FBXW11;score=.909 && partner=ENSP00000262643;symbol=CCNE1;score=.972 GeneCard: FANCC   Fanconi anemia, complementation group C (GC09M096901; Chromosome 9:96,901,157-97,119,812) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Functional relationships of FANCC to homologous recombination, translesion synthesis, and BLM. . . . - STRING: ensp: ENSP00000364454 | interactions: partner=ENSP00000364270;symbol=XPA;score=.811 && partner=ENSP00000302961;symbol=HSPA4;score=.84 && partner=ENSP00000300027;symbol=FANCI;score=.703 && partner=ENSP00000259008;symbol=BRIP1;score=.91 && partner=ENSP00000359153;symbol=COL12A1;score=.899 && partner=ENSP00000372583;symbol=;score=.899 && partner=ENSP00000367910;symbol=FANCG;score=.999 && partner=ENSP00000261584;symbol=PALB2;score=.866 && partner=ENSP00000364802;symbol=HSPA1A;score=.831 && partner=ENSP00000233741;symbol=FANCL;score=.993 && partner=ENSP00000368100;symbol=RAD50;score=.827 && partner=ENSP00000353695;symbol=GSTCD;score=.866 && partner=ENSP00000354394;symbol=STAT1;score=.994 && partner=ENSP00000361806;symbol=SPTAN1;score=.914 && partner=ENSP00000374163;symbol=;score=.819 && partner=ENSP00000339097;symbol=ZNF169;score=.88 && partner=ENSP00000350283;symbol=BRCA1;score=.996 && partner=ENSP00000353166;symbol=;score=.872 && partner=ENSP00000332353;symbol=PTCH1;score=.919 && partner=ENSP00000262630;symbol=ZBTB32;score=.984 && partner=ENSP00000196968;symbol=GSTP1;score=.974 && partner=ENSP00000369497;symbol=BRCA2;score=.962 && partner=ENSP00000267430;symbol=FANCM;score=.876 && partner=ENSP00000287647;symbol=FANCD2;score=.999 && partner=ENSP00000347232;symbol=BLM;score=.847 && partner=ENSP00000373952;symbol=FANCA;score=.999 && partner=ENSP00000260947;symbol=BARD1;score=.944 && partner=ENSP00000368453;symbol=EIF2AK2;score=.991 && partner=ENSP00000362917;symbol=CDC2;score=.821 && partner=ENSP00000299767;symbol=HSP90B1;score=.947 && partner=ENSP00000330875;symbol=FANCF;score=.999 && partner=ENSP00000229769;symbol=FANCE;score=.999 GeneCard: FEN1   flap structure-specific endonuclease 1 (GC11P061316; Chromosome 11:61,316,726-61,321,286) The following 2 records in the GeneCard text contribute to matching your query: - SWISSPROT: INTERACTION: P54132:BLM; NbExp=3; IntAct=EBI-707816, EBI-621372; P12004:PCNA; NbExp=2; IntAct=EBI-707816, EBI-358311; Q14191:WRN; NbExp=7; IntAct=EBI-707816, EBI-368417; SWISSPROT: FEN1 | EC 3.1.-.- |GENE: FEN1| [380 amino acids; 42593 D] | P39748 |FUNCTION: Endonuclease that cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Also possesses 5' to 3' exonuclease activity on niked or gapped double-stranded DNA, and exhibits RNase H activity|COFACTOR: Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May bind an additional third magnesium ion after substrate binding|SUBUNIT: Interacts with PCNA. The C-terminal domain binds EP300. Can bind simultaneously to both PCNA and EP300|INTERACTION: P54132:BLM; NbExp=3; IntAct=EBI-707816, EBI-621372; P12004:PCNA; NbExp=2; IntAct=EBI-707816, EBI-358311; Q14191:WRN; NbExp=7; IntAct=EBI-707816, EBI-368417; |SUBCELLULAR LOCATION: Nucleus|PTM: Acetylated by EP300. Acetylation inhibits both endonuclease and exonuclease activity. Acetylation also reduces DNA-binding activity but does not affect interaction with PCNA or EP300|SIMILARITY: Belongs to the XPG/RAD2 endonuclease family. FEN1 subfamily|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fen1/"; |PDB: 1U7B; 1UL1; |RECOMMENDED_NAME: Flap endonuclease 1 && minedVia: UniProt - STRING: ensp: ENSP00000305480 | interactions: partner=ENSP00000373936;symbol=;score=.816 && partner=ENSP00000231790;symbol=MLH1;score=.871 && partner=ENSP00000269305;symbol=TP53;score=.868 && partner=ENSP00000263681;symbol=POLD3;score=.944 && partner=ENSP00000216714;symbol=APEX1;score=.998 && partner=ENSP00000350491;symbol=PRIM1;score=.944 && partner=ENSP00000255465;symbol=CCNA1;score=.767 && partner=ENSP00000348020;symbol=MLH3;score=.71 && partner=ENSP00000234420;symbol=MSH6;score=.865 && partner=ENSP00000364270;symbol=XPA;score=.804 && partner=ENSP00000221486;symbol=RNASEH2A;score=.722 && partner=ENSP00000298139;symbol=WRN;score=.999 && partner=ENSP00000365764;symbol=;score=.89 && partner=ENSP00000013807;symbol=ERCC1;score=.823 && partner=ENSP00000223129;symbol=RPA3;score=.95 && partner=ENSP00000278836;symbol=C11orf9;score=.812 && partner=ENSP00000301323;symbol=RECQL4;score=.721 && partner=ENSP00000218432;symbol=PIN4;score=.7 && partner=ENSP00000371446;symbol=;score=.959 && partner=ENSP00000264221;symbol=PAICS;score=.708 && partner=ENSP00000365275;symbol=;score=.802 && partner=ENSP00000265421;symbol=POLB;score=.75 && partner=ENSP00000351284;symbol=RAD52;score=.85 && partner=ENSP00000206249;symbol=ESR1;score=.815 && partner=ENSP00000253727;symbol=NR1H2;score=.897 && partner=ENSP00000263253;symbol=EP300;score=.858 && partner=ENSP00000368100;symbol=RAD50;score=.927 && partner=ENSP00000348089;symbol=ERCC6;score=.843 && partner=ENSP00000217800;symbol=POLI;score=.708 && partner=ENSP00000265465;symbol=POLA2;score=.912 && partner=ENSP00000310520;symbol=ERCC4;score=.897 && partner=ENSP00000351185;symbol=DNA2;score=.997 && partner=ENSP00000263525;symbol=TNR;score=.708 && partner=ENSP00000358311;symbol=DCLRE1A;score=.712 && partner=ENSP00000371321;symbol=RFC1;score=.817 && partner=ENSP00000362441;symbol=ATRX;score=.768 && partner=ENSP00000353166;symbol=;score=.702 && partner=ENSP00000374139;symbol=PRIM2;score=.899 && partner=ENSP00000368438;symbol=PCNA;score=.999 && partner=ENSP00000357792;symbol=REV3L;score=.718 && partner=ENSP00000345347;symbol=HMGB1;score=.714 && partner=ENSP00000219066;symbol=NTHL1;score=.774 && partner=ENSP00000274026;symbol=CCNA2;score=.921 && partner=ENSP00000372088;symbol=RAD51;score=.801 && partner=ENSP00000359022;symbol=ELOVL3;score=.784 && partner=ENSP00000363015;symbol=RPA2;score=.952 && partner=ENSP00000317636;symbol=RECQL5;score=.79 && partner=ENSP00000347232;symbol=BLM;score=.915 && partner=ENSP00000223361;symbol=POLD2;score=.977 && partner=ENSP00000352257;symbol=XRCC6;score=.712 && partner=ENSP00000233146;symbol=MSH2;score=.94 && partner=ENSP00000325863;symbol=MRE11A;score=.914 && partner=ENSP00000318727;symbol=RECQL;score=.806 && partner=ENSP00000221481;symbol=ERCC2;score=.873 && partner=ENSP00000262266;symbol=POLD1;score=.985 && partner=ENSP00000311368;symbol=POLD4;score=.899 && partner=ENSP00000347170;symbol=NEIL1;score=.888 && partner=ENSP00000263274;symbol=LIG1;score=.93 && partner=ENSP00000362917;symbol=CDC2;score=.736 && partner=ENSP00000373348;symbol=;score=.744 && partner=ENSP00000368358;symbol=POLA1;score=.92 GeneCard: H2AFX   H2A histone family, member X (GC11M118469; Chromosome 11:118,469,794-118,471,387) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest. . . . - STRING: ensp: ENSP00000364310 | interactions: partner=ENSP00000341779;symbol=PPP1CC;score=.872 && partner=ENSP00000231790;symbol=MLH1;score=.718 && partner=ENSP00000274827;symbol=UIMC1;score=.76 && partner=ENSP00000372376;symbol=;score=.857 && partner=ENSP00000269305;symbol=TP53;score=.933 && partner=ENSP00000303706;symbol=CDC25A;score=.952 && partner=ENSP00000352999;symbol=BBC3;score=.725 && partner=ENSP00000234420;symbol=MSH6;score=.754 && partner=ENSP00000354522;symbol=TOP1;score=.962 && partner=ENSP00000350168;symbol=;score=.857 && partner=ENSP00000298139;symbol=WRN;score=.904 && partner=ENSP00000266970;symbol=CDK2;score=.874 && partner=ENSP00000362578;symbol=RNF8;score=.887 && partner=ENSP00000355356;symbol=;score=.815 && partner=ENSP00000309766;symbol=HDAC7;score=.876 && partner=ENSP00000355759;symbol=PARP1;score=.783 && partner=ENSP00000363291;symbol=MAPK8;score=.925 && partner=ENSP00000318217;symbol=DDR1;score=.827 && partner=ENSP00000343442;symbol=DHX30;score=.914 && partner=ENSP00000350725;symbol=RAD17;score=.712 && partner=ENSP00000273853;symbol=CENPC1;score=.877 && partner=ENSP00000320134;symbol=;score=.772 && partner=ENSP00000371479;symbol=;score=.999 && partner=ENSP00000354168;symbol=TSSK6;score=.82 && partner=ENSP00000258149;symbol=MDM2;score=.781 && partner=ENSP00000308620;symbol=RAG2;score=.728 && partner=ENSP00000368100;symbol=RAD50;score=.999 && partner=ENSP00000264331;symbol=TOP2B;score=.774 && partner=ENSP00000229335;symbol=AICDA;score=.907 && partner=ENSP00000326031;symbol=PPP1CA;score=.752 && partner=ENSP00000374163;symbol=;score=.999 && partner=ENSP00000316176;symbol=UBE2N;score=.749 && partner=ENSP00000311032;symbol=CASP3;score=.814 && partner=ENSP00000278916;symbol=CHEK1;score=.896 && partner=ENSP00000313420;symbol=PRKDC;score=.759 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000263201;symbol=CDC45L;score=.847 && partner=ENSP00000265433;symbol=NBN;score=.999 && partner=ENSP00000368438;symbol=PCNA;score=.708 && partner=ENSP00000323421;symbol=SMC1A;score=.955 && partner=ENSP00000372088;symbol=RAD51;score=.892 && partner=ENSP00000342011;symbol=XRCC4;score=.796 && partner=ENSP00000301905;symbol=PBK;score=.873 && partner=ENSP00000287647;symbol=FANCD2;score=.79 && partner=ENSP00000347232;symbol=BLM;score=.843 && partner=ENSP00000352257;symbol=XRCC6;score=.867 && partner=ENSP00000372023;symbol=CHEK2;score=.966 && partner=ENSP00000372879;symbol=ENSG00000206385;score=.993 && partner=ENSP00000325863;symbol=MRE11A;score=.999 && partner=ENSP00000367527;symbol=DCLRE1C;score=.721 && partner=ENSP00000357283;symbol=LMNA;score=.864 && partner=ENSP00000262069;symbol=HDAC9;score=.792 && partner=ENSP00000260947;symbol=BARD1;score=.939 && partner=ENSP00000293288;symbol=BAX;score=.769 && partner=ENSP00000321656;symbol=CDC25C;score=.874 && partner=ENSP00000259882;symbol=;score=.973 && partner=ENSP00000340330;symbol=KAT5;score=.913 && partner=ENSP00000336417;symbol=HIST2H2BE;score=.878 && partner=ENSP00000304895;symbol=IRS1;score=.84 && partner=ENSP00000352516;symbol=DNMT1;score=.792 && partner=ENSP00000344818;symbol=UBC;score=.72 && partner=ENSP00000329528;symbol=XRCC5;score=.803 GeneCard: MRE11A   MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (GC11M093790; Chromosome 11:93,790,114-93,866,688) The following 2 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN (By similarity). Interacts with DCLRE1C/ArtemisSWISSPROT: MRE11 | |GENE: MRE11A| [708 amino acids; 80593 D] | P49959 |FUNCTION: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation|COFACTOR: Manganese (By similarity)|SUBUNIT: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN (By similarity). Interacts with DCLRE1C/Artemis|INTERACTION: P24864:CCNE1; NbExp=1; IntAct=EBI-396513, EBI-519526; P16104:H2AFX; NbExp=1; IntAct=EBI-396513, EBI-494830; O60934:NBN; NbExp=1; IntAct=EBI-396513, EBI-494844; |SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Localizes to discrete nuclear foci after treatment with genotoxic agents (By similarity)|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49959-1; Sequence=Displayed; Name=2; IsoId=P49959-2; Sequence=VSP_003262; |PTM: Phosphorylated upon DNA damage, probably by ATM or ATR|DISEASE: Defects in MRE11A are a cause of ataxia telangiectasia-like disorder (ATLD) [MIM:604391]. ATLD is a disease with the same clinical feature than ataxia-telangiectasia but with a somewhat milder clinical course|DISEASE: Defects in MRE11A may be a cause of breast cancer|MISCELLANEOUS: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells|SIMILARITY: Belongs to the MRE11/RAD32 family|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MRE11ID247.html";|WEB RESOURCE: Name=MRE11base; Note=MRE11A mutation db; URL="http://bioinf.uta.fi/MRE11Abase/";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mre11a/"; |SECONDARY ACCESSIONS: O43475 |RECOMMENDED_NAME: Double-strand break repair protein MRE11A && minedVia: UniProt - STRING: ensp: ENSP00000325863 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.97 && partner=ENSP00000269305;symbol=TP53;score=.908 && partner=ENSP00000310449;symbol=;score=.847 && partner=ENSP00000303706;symbol=CDC25A;score=.943 && partner=ENSP00000360304;symbol=SPO11;score=.805 && partner=ENSP00000234420;symbol=MSH6;score=.955 && partner=ENSP00000305480;symbol=FEN1;score=.914 && partner=ENSP00000298139;symbol=WRN;score=.966 && partner=ENSP00000266970;symbol=CDK2;score=.884 && partner=ENSP00000360025;symbol=GADD45A;score=.753 && partner=ENSP00000354024;symbol=RBBP8;score=.998 && partner=ENSP00000364310;symbol=H2AFX;score=.999 && partner=ENSP00000350725;symbol=RAD17;score=.702 && partner=ENSP00000371446;symbol=;score=.866 && partner=ENSP00000371479;symbol=;score=.946 && partner=ENSP00000249396;symbol=SIRT2;score=.758 && partner=ENSP00000351284;symbol=RAD52;score=.934 && partner=ENSP00000361662;symbol=GUCA2B;score=.899 && partner=ENSP00000368100;symbol=RAD50;score=.999 && partner=ENSP00000343392;symbol=XRCC3;score=.79 && partner=ENSP00000310520;symbol=ERCC4;score=.705 && partner=ENSP00000374163;symbol=;score=.999 && partner=ENSP00000351185;symbol=DNA2;score=.727 && partner=ENSP00000254942;symbol=TERF2;score=.981 && partner=ENSP00000276603;symbol=TERF1;score=.773 && partner=ENSP00000358311;symbol=DCLRE1A;score=.78 && partner=ENSP00000278916;symbol=CHEK1;score=.964 && partner=ENSP00000313420;symbol=PRKDC;score=.91 && partner=ENSP00000362441;symbol=ATRX;score=.768 && partner=ENSP00000353166;symbol=;score=.736 && partner=ENSP00000263201;symbol=CDC45L;score=.905 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000265433;symbol=NBN;score=.999 && partner=ENSP00000307853;symbol=MUS81;score=.712 && partner=ENSP00000369497;symbol=BRCA2;score=.925 && partner=ENSP00000323421;symbol=SMC1A;score=.943 && partner=ENSP00000372088;symbol=RAD51;score=.842 && partner=ENSP00000342011;symbol=XRCC4;score=.81 && partner=ENSP00000287647;symbol=FANCD2;score=.931 && partner=ENSP00000347232;symbol=BLM;score=.947 && partner=ENSP00000352257;symbol=XRCC6;score=.986 && partner=ENSP00000311873;symbol=EXO1;score=.775 && partner=ENSP00000372023;symbol=CHEK2;score=.968 && partner=ENSP00000300086;symbol=TERF2IP;score=.963 && partner=ENSP00000233146;symbol=MSH2;score=.931 && partner=ENSP00000372879;symbol=ENSG00000206385;score=.861 && partner=ENSP00000367527;symbol=DCLRE1C;score=.878 && partner=ENSP00000260947;symbol=BARD1;score=.96 && partner=ENSP00000336606;symbol=RAD54B;score=.722 && partner=ENSP00000321656;symbol=CDC25C;score=.722 && partner=ENSP00000259882;symbol=;score=.908 && partner=ENSP00000246789;symbol=PRMT1;score=.952 && partner=ENSP00000329528;symbol=XRCC5;score=.93 GeneCard: MSH6   mutS homolog 6 (E. coli) (GC02P047921; Chromosome 2:47,863,725-47,887,596) The following 2 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATRSWISSPROT: MSH6 | |GENE: MSH6| [1360 amino acids; 152786 D] | P52701 |FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair|SUBUNIT: Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR|INTERACTION: P49662:CASP4; NbExp=1; IntAct=EBI-395529, EBI-1057327; P43246:MSH2; NbExp=1; IntAct=EBI-395529, EBI-355888; |SUBCELLULAR LOCATION: Nucleus|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=GTBP-N; IsoId=P52701-1; Sequence=Displayed; Name=GTBP-alt; IsoId=P52701-2; Sequence=VSP_003291, VSP_003292; |PTM: The N-terminus is blocked|PTM: Phosphorylated upon DNA damage, probably by ATM or ATR|PTM: Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway|DISEASE: Defects in MSH6 are the cause of hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:600678]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. MSH6 mutations appear to be associated with atypical HNPCC and in particular with development of endometrial carcinoma or atypical endometrial hyperplasia, the presumed precursor of endometrial cancer. Defects in MSH6 are also found in familial colorectal cancers (suspected or incomplete HNPCC) that do not fulfill the Amsterdam criteria for HNPCC|DISEASE: Defects in MSH6 are a cause of susceptibility to endometrial cancer [MIM:608089]|SIMILARITY: Belongs to the DNA mismatch repair mutS family|SIMILARITY: Contains 1 PWWP domain|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MSH6ID344ch2p16.html";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=MSH6";|WEB RESOURCE: Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/";|WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msh6/"; |PDB: 2GFU; 2O8B; 2O8C; 2O8D; 2O8E; 2O8F; |SECONDARY ACCESSIONS: O43706 O43917 Q8TCX4 Q9BTB5 |RECOMMENDED_NAME: DNA mismatch repair protein Msh6 && minedVia: UniProt - LITERATURE: The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase. . . . GeneCard: MUS81   MUS81 endonuclease homolog (S. cerevisiae) (GC11P065384; Chromosome 11:65,384,448-65,390,490) The following 2 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: May self-associate. Interacts with EME1, EME2 and CHEK2. Interacts with BLM, and this interaction may stimulate the endonuclease activity of MUS81SWISSPROT: MUS81 | EC 3.1.22.- |GENE: MUS81| [551 amino acids; 61173 D] | Q96NY9 |FUNCTION: Interacts with EME1 and EME2 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks|COFACTOR: Magnesium|SUBUNIT: May self-associate. Interacts with EME1, EME2 and CHEK2. Interacts with BLM, and this interaction may stimulate the endonuclease activity of MUS81|SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=Recruited to foci of DNA damage in S-phase cells|TISSUE SPECIFICITY: Widely expressed|DEVELOPMENTAL STAGE: Expressed in S phase and G2 phase|INDUCTION: Up-regulated in cells treated with agents that damage DNA or block replication. This up-regulation seems to be independent of transcription|SIMILARITY: Belongs to the XPF family |PDB: 2ZIX; |SECONDARY ACCESSIONS: Q9H7D9 |RECOMMENDED_NAME: Crossover junction endonuclease MUS81 && minedVia: UniProt - LITERATURE: BLM helicase facilitates Mus81 endonuclease activity in human cells. . . . GeneCard: RAD50   RAD50 homolog (S. cerevisiae) (GC05P131920; Chromosome 5:131,920,529-132,007,498) The following 2 records in the GeneCard text contribute to matching your query: - SWISSPROT: SUBUNIT: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN. Found in a complex with TERF2. Interacts with RINT1. Interacts with BRCA1 via its N-terminal domain. Interacts with DCLRE1C/ArtemisSWISSPROT: RAD50 | EC 3.6.-.- |GENE: RAD50| [1312 amino acids; 153892 D] | Q92878 |FUNCTION: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation|COFACTOR: Binds 1 zinc ion per homodimer (By similarity)|SUBUNIT: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN. Found in a complex with TERF2. Interacts with RINT1. Interacts with BRCA1 via its N-terminal domain. Interacts with DCLRE1C/Artemis|INTERACTION: P41235:HNF4A; NbExp=1; IntAct=EBI-495494, EBI-1049011; |SUBCELLULAR LOCATION: Nucleus. Telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=RAD50-1, RAD50-2; IsoId=Q92878-1; Sequence=Displayed; Name=2; IsoId=Q92878-2; Sequence=VSP_012591; Name=3; Synonyms=RAD50-3; IsoId=Q92878-3; Sequence=VSP_012590; |TISSUE SPECIFICITY: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts|DOMAIN: The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11A homodimer (By similarity)|PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity)|MISCELLANEOUS: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells|SIMILARITY: Belongs to the SMC family. RAD50 subfamily|SIMILARITY: Contains 1 zinc-hook domain|SEQUENCE CAUTION: Sequence=AAH62603.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; |SECONDARY ACCESSIONS: O43254 Q6GMT7 Q6P5X3 Q9UP86 |RECOMMENDED_NAME: DNA repair protein RAD50 && minedVia: UniProt - STRING: ensp: ENSP00000368100 | interactions: partner=ENSP00000373936;symbol=;score=.866 && partner=ENSP00000231790;symbol=MLH1;score=.978 && partner=ENSP00000269305;symbol=TP53;score=.819 && partner=ENSP00000310449;symbol=;score=.825 && partner=ENSP00000303706;symbol=CDC25A;score=.895 && partner=ENSP00000360304;symbol=SPO11;score=.874 && partner=ENSP00000234420;symbol=MSH6;score=.974 && partner=ENSP00000305480;symbol=FEN1;score=.927 && partner=ENSP00000257700;symbol=RINT1;score=.994 && partner=ENSP00000354024;symbol=RBBP8;score=.979 && partner=ENSP00000364310;symbol=H2AFX;score=.999 && partner=ENSP00000367910;symbol=FANCG;score=.812 && partner=ENSP00000364454;symbol=FANCC;score=.827 && partner=ENSP00000055077;symbol=RFC2;score=.788 && partner=ENSP00000350725;symbol=RAD17;score=.72 && partner=ENSP00000371446;symbol=;score=.789 && partner=ENSP00000371479;symbol=;score=.819 && partner=ENSP00000357928;symbol=CDC40;score=.701 && partner=ENSP00000351284;symbol=RAD52;score=.965 && partner=ENSP00000361662;symbol=GUCA2B;score=.899 && partner=ENSP00000374163;symbol=;score=.999 && partner=ENSP00000254942;symbol=TERF2;score=.995 && partner=ENSP00000276603;symbol=TERF1;score=.781 && partner=ENSP00000351185;symbol=DNA2;score=.728 && partner=ENSP00000278916;symbol=CHEK1;score=.82 && partner=ENSP00000371321;symbol=RFC1;score=.778 && partner=ENSP00000362441;symbol=ATRX;score=.75 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000353166;symbol=;score=.813 && partner=ENSP00000265433;symbol=NBN;score=.999 && partner=ENSP00000368438;symbol=PCNA;score=.89 && partner=ENSP00000369497;symbol=BRCA2;score=.856 && partner=ENSP00000372088;symbol=RAD51;score=.871 && partner=ENSP00000342011;symbol=XRCC4;score=.74 && partner=ENSP00000287647;symbol=FANCD2;score=.853 && partner=ENSP00000296273;symbol=RFC4;score=.759 && partner=ENSP00000306561;symbol=OGG1;score=.786 && partner=ENSP00000347232;symbol=BLM;score=.745 && partner=ENSP00000311873;symbol=EXO1;score=.869 && partner=ENSP00000352257;symbol=XRCC6;score=.902 && partner=ENSP00000373952;symbol=FANCA;score=.774 && partner=ENSP00000372023;symbol=CHEK2;score=.974 && partner=ENSP00000300086;symbol=TERF2IP;score=.986 && partner=ENSP00000233146;symbol=MSH2;score=.983 && partner=ENSP00000372879;symbol=ENSG00000206385;score=.861 && partner=ENSP00000325863;symbol=MRE11A;score=.999 && partner=ENSP00000367527;symbol=DCLRE1C;score=.765 && partner=ENSP00000260947;symbol=BARD1;score=.927 && partner=ENSP00000336606;symbol=RAD54B;score=.712 && partner=ENSP00000259882;symbol=;score=.892 && partner=ENSP00000362917;symbol=CDC2;score=.88 && partner=ENSP00000373348;symbol=;score=.708 && partner=ENSP00000329528;symbol=XRCC5;score=.748 && partner=ENSP00000330875;symbol=FANCF;score=.812 GeneCard: RAD51   RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) (GC15P038774; Chromosome 15:38,774,651-38,811,648) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51. . . . - STRING: ensp: ENSP00000372088 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.858 && partner=ENSP00000361423;symbol=ABL1;score=.989 && partner=ENSP00000311360;symbol=RAD9A;score=.883 && partner=ENSP00000263681;symbol=POLD3;score=.706 && partner=ENSP00000257430;symbol=APC;score=.745 && partner=ENSP00000360304;symbol=SPO11;score=.762 && partner=ENSP00000364270;symbol=XPA;score=.777 && partner=ENSP00000263798;symbol=TYRO3;score=.722 && partner=ENSP00000298139;symbol=WRN;score=.852 && partner=ENSP00000263851;symbol=IL7;score=.734 && partner=ENSP00000363286;symbol=POLE3;score=.706 && partner=ENSP00000368164;symbol=MCM8;score=.75 && partner=ENSP00000262887;symbol=XRCC1;score=.732 && partner=ENSP00000013807;symbol=ERCC1;score=.736 && partner=ENSP00000340879;symbol=RAD1;score=.741 && partner=ENSP00000367910;symbol=FANCG;score=.773 && partner=ENSP00000340507;symbol=TRIM24;score=.821 && partner=ENSP00000368881;symbol=KIN;score=.734 && partner=ENSP00000351284;symbol=RAD52;score=.999 && partner=ENSP00000320503;symbol=EDC3;score=.9 && partner=ENSP00000264281;symbol=SUMO1;score=.991 && partner=ENSP00000320147;symbol=EZH2;score=.885 && partner=ENSP00000284384;symbol=PRKCA;score=.899 && partner=ENSP00000368100;symbol=RAD50;score=.871 && partner=ENSP00000338408;symbol=RAD51L3;score=.765 && partner=ENSP00000310520;symbol=ERCC4;score=.701 && partner=ENSP00000248566;symbol=SHFM1;score=.824 && partner=ENSP00000362441;symbol=ATRX;score=.997 && partner=ENSP00000354976;symbol=;score=.777 && partner=ENSP00000353166;symbol=;score=.804 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000331987;symbol=;score=.843 && partner=ENSP00000368438;symbol=PCNA;score=.992 && partner=ENSP00000306157;symbol=IL7R;score=.766 && partner=ENSP00000361043;symbol=RAD54L;score=.996 && partner=ENSP00000317636;symbol=RECQL5;score=.897 && partner=ENSP00000231004;symbol=LOX;score=.937 && partner=ENSP00000223361;symbol=POLD2;score=.706 && partner=ENSP00000240488;symbol=MND1;score=.927 && partner=ENSP00000233146;symbol=MSH2;score=.833 && partner=ENSP00000360765;symbol=NOTCH1;score=.727 && partner=ENSP00000336606;symbol=RAD54B;score=.94 && partner=ENSP00000260947;symbol=BARD1;score=.993 && partner=ENSP00000262069;symbol=HDAC9;score=.884 && partner=ENSP00000348056;symbol=UBE2I;score=.994 && partner=ENSP00000373348;symbol=;score=.739 && partner=ENSP00000323353;symbol=UEVLD;score=.748 && partner=ENSP00000350573;symbol=SPSB1;score=.708 && partner=ENSP00000269305;symbol=TP53;score=.997 && partner=ENSP00000310449;symbol=;score=.837 && partner=ENSP00000344456;symbol=CTNNB1;score=.723 && partner=ENSP00000308137;symbol=FOLR1;score=.75 && partner=ENSP00000359857;symbol=;score=.852 && partner=ENSP00000354279;symbol=;score=.899 && partner=ENSP00000305480;symbol=FEN1;score=.801 && partner=ENSP00000363779;symbol=IKBKAP;score=.902 && partner=ENSP00000242576;symbol=UNG;score=.704 && partner=ENSP00000259008;symbol=BRIP1;score=.809 && partner=ENSP00000216024;symbol=DMC1;score=.776 && partner=ENSP00000364310;symbol=H2AFX;score=.892 && partner=ENSP00000223129;symbol=RPA3;score=.967 && partner=ENSP00000352732;symbol=;score=.75 && partner=ENSP00000318195;symbol=NCL;score=.839 && partner=ENSP00000350725;symbol=RAD17;score=.73 && partner=ENSP00000371446;symbol=;score=.997 && partner=ENSP00000357206;symbol=NES;score=.73 && partner=ENSP00000371479;symbol=;score=.724 && partner=ENSP00000360707;symbol=;score=.884 && partner=ENSP00000253727;symbol=NR1H2;score=.802 && partner=ENSP00000352271;symbol=XRCC2;score=.75 && partner=ENSP00000308620;symbol=RAG2;score=.818 && partner=ENSP00000254108;symbol=FUS;score=.788 && partner=ENSP00000343392;symbol=XRCC3;score=.766 && partner=ENSP00000361310;symbol=POLH;score=.826 && partner=ENSP00000305355;symbol=PRKCB;score=.899 && partner=ENSP00000374163;symbol=;score=.93 && partner=ENSP00000357748;symbol=BCCIP;score=.928 && partner=ENSP00000311032;symbol=CASP3;score=.785 && partner=ENSP00000278916;symbol=CHEK1;score=.965 && partner=ENSP00000336701;symbol=RAD51C;score=.913 && partner=ENSP00000307853;symbol=MUS81;score=.736 && partner=ENSP00000306920;symbol=GLB1;score=.75 && partner=ENSP00000369497;symbol=BRCA2;score=.999 && partner=ENSP00000324404;symbol=TCHP;score=.909 && partner=ENSP00000342011;symbol=XRCC4;score=.808 && partner=ENSP00000363015;symbol=RPA2;score=.976 && partner=ENSP00000287647;symbol=FANCD2;score=.933 && partner=ENSP00000347232;symbol=BLM;score=.965 && partner=ENSP00000352257;symbol=XRCC6;score=.746 && partner=ENSP00000340560;symbol=RAD51L1;score=.714 && partner=ENSP00000372023;symbol=CHEK2;score=.821 && partner=ENSP00000299440;symbol=RAG1;score=.828 && partner=ENSP00000372336;symbol=ZMYM2;score=.7 && partner=ENSP00000325863;symbol=MRE11A;score=.842 && partner=ENSP00000328213;symbol=LCK;score=.742 && partner=ENSP00000221481;symbol=ERCC2;score=.922 && partner=ENSP00000228843;symbol=RAD51AP1;score=.99 && partner=ENSP00000262266;symbol=POLD1;score=.756 && partner=ENSP00000368358;symbol=POLA1;score=.812 && partner=ENSP00000304895;symbol=IRS1;score=.962 && partner=ENSP00000329528;symbol=XRCC5;score=.817 GeneCard: RPA2   replication protein A2, 32kDa (GC01M028090; Chromosome 1:28,090,636-28,113,844) The following 2 records in the GeneCard text contribute to matching your query: - GENATLAS: biochem: replication protein A,subunit 2,component of a trimeric single strand binding protein,involved in replication,homologous recombination and nucleotide excision repair,colocolizing with RAD51 on synapsed axes in meiosis and facilitating RAD51 function,also colocalizing with BLM in meiotic prophase of prophase nuclei of spermatocytes | disease: - STRING: ensp: ENSP00000363015 | interactions: partner=ENSP00000234296;symbol=ORC2L;score=.999 && partner=ENSP00000311360;symbol=RAD9A;score=.963 && partner=ENSP00000265963;symbol=GTF2H1;score=.958 && partner=ENSP00000216122;symbol=MCM5;score=.999 && partner=ENSP00000263681;symbol=POLD3;score=.915 && partner=ENSP00000364270;symbol=XPA;score=.999 && partner=ENSP00000298139;symbol=WRN;score=.808 && partner=ENSP00000368164;symbol=MCM8;score=.899 && partner=ENSP00000285021;symbol=XPC;score=.933 && partner=ENSP00000013807;symbol=ERCC1;score=.94 && partner=ENSP00000340879;symbol=RAD1;score=.899 && partner=ENSP00000264169;symbol=ORC4L;score=.999 && partner=ENSP00000372583;symbol=;score=.913 && partner=ENSP00000055077;symbol=RFC2;score=.931 && partner=ENSP00000323099;symbol=ATRIP;score=.987 && partner=ENSP00000216367;symbol=POLE2;score=.899 && partner=ENSP00000360621;symbol=ORC1L;score=.999 && partner=ENSP00000368881;symbol=KIN;score=.723 && partner=ENSP00000347978;symbol=ERCC5;score=.934 && partner=ENSP00000354945;symbol=MCM10;score=.899 && partner=ENSP00000351284;symbol=RAD52;score=.999 && partner=ENSP00000297431;symbol=ORC5L;score=.999 && partner=ENSP00000264156;symbol=MCM6;score=.899 && partner=ENSP00000374300;symbol=;score=.934 && partner=ENSP00000310520;symbol=ERCC4;score=.944 && partner=ENSP00000229335;symbol=AICDA;score=.723 && partner=ENSP00000258774;symbol=HUS1;score=.899 && partner=ENSP00000265728;symbol=DBF4;score=.908 && partner=ENSP00000369447;symbol=;score=.904 && partner=ENSP00000368438;symbol=PCNA;score=.946 && partner=ENSP00000219097;symbol=ORC6L;score=.901 && partner=ENSP00000296273;symbol=RFC4;score=.947 && partner=ENSP00000223361;symbol=POLD2;score=.963 && partner=ENSP00000348232;symbol=;score=.904 && partner=ENSP00000228955;symbol=GTF2H3;score=.904 && partner=ENSP00000358490;symbol=CD2;score=.823 && partner=ENSP00000269305;symbol=TP53;score=.728 && partner=ENSP00000373037;symbol=;score=.904 && partner=ENSP00000350491;symbol=PRIM1;score=.939 && partner=ENSP00000350708;symbol=RAD23B;score=.937 && partner=ENSP00000362131;symbol=RPA4;score=.962 && partner=ENSP00000359643;symbol=LPAR3;score=.746 && partner=ENSP00000305480;symbol=FEN1;score=.952 && partner=ENSP00000242576;symbol=UNG;score=.769 && partner=ENSP00000229854;symbol=MCM3;score=.999 && partner=ENSP00000256443;symbol=CDK7;score=.907 && partner=ENSP00000262105;symbol=MCM4;score=.999 && partner=ENSP00000266970;symbol=CDK2;score=.93 && partner=ENSP00000365764;symbol=;score=.916 && partner=ENSP00000223129;symbol=RPA3;score=.999 && partner=ENSP00000350725;symbol=RAD17;score=.961 && partner=ENSP00000371446;symbol=;score=.999 && partner=ENSP00000351659;symbol=LPAR2;score=.744 && partner=ENSP00000257789;symbol=ORC3L;score=.901 && partner=ENSP00000371479;symbol=;score=.746 && partner=ENSP00000365275;symbol=;score=.904 && partner=ENSP00000282572;symbol=CCNO;score=.889 && partner=ENSP00000261245;symbol=MNAT1;score=.899 && partner=ENSP00000325414;symbol=SERTAD3;score=.988 && partner=ENSP00000209728;symbol=CDC6;score=.906 && partner=ENSP00000362317;symbol=CLSPN;score=.941 && partner=ENSP00000265465;symbol=POLA2;score=.932 && partner=ENSP00000374163;symbol=;score=.989 && partner=ENSP00000351185;symbol=DNA2;score=.956 && partner=ENSP00000359443;symbol=CDC7;score=.916 && partner=ENSP00000278916;symbol=CHEK1;score=.986 && partner=ENSP00000313420;symbol=PRKDC;score=.978 && partner=ENSP00000263201;symbol=CDC45L;score=.944 && partner=ENSP00000307288;symbol=MCM7;score=.899 && partner=ENSP00000374139;symbol=PRIM2;score=.899 && partner=ENSP00000338570;symbol=RAD9B;score=.899 && partner=ENSP00000369497;symbol=BRCA2;score=.875 && partner=ENSP00000372088;symbol=RAD51;score=.976 && partner=ENSP00000265056;symbol=MCM2;score=.999 && partner=ENSP00000337088;symbol=MEN1;score=.943 && partner=ENSP00000229043;symbol=RFC5;score=.91 && partner=ENSP00000347232;symbol=BLM;score=.866 && partner=ENSP00000256996;symbol=DDB2;score=.899 && partner=ENSP00000352257;symbol=XRCC6;score=.835 && partner=ENSP00000369411;symbol=RFC3;score=.899 && partner=ENSP00000221481;symbol=ERCC2;score=.948 && partner=ENSP00000262266;symbol=POLD1;score=.955 && partner=ENSP00000311368;symbol=POLD4;score=.899 && partner=ENSP00000362917;symbol=CDC2;score=.7 && partner=ENSP00000368358;symbol=POLA1;score=.932 GeneCard: RPA3   replication protein A3, 14kDa (GC07M007643; Chromosome 7:7,642,874-7,724,763) The following 2 records in the GeneCard text contribute to matching your query: - GENATLAS: biochem: replication protein A,subunit 3,component 14kDa of a trimeric single strand binding protein,involved in replication,homologous recombination and nucleotide excision repair,colocalizing with RAD51 on synapsed axes in meiosis and facilitating RAD51 function,also colocalizing with BLM in meiotic prophase of prophase nuclei of spermatocytes | disease: - STRING: ensp: ENSP00000223129 | interactions: partner=ENSP00000234296;symbol=ORC2L;score=.917 && partner=ENSP00000311360;symbol=RAD9A;score=.936 && partner=ENSP00000265963;symbol=GTF2H1;score=.899 && partner=ENSP00000216122;symbol=MCM5;score=.899 && partner=ENSP00000263681;symbol=POLD3;score=.915 && partner=ENSP00000364270;symbol=XPA;score=.98 && partner=ENSP00000298139;symbol=WRN;score=.808 && partner=ENSP00000368164;symbol=MCM8;score=.899 && partner=ENSP00000285021;symbol=XPC;score=.933 && partner=ENSP00000013807;symbol=ERCC1;score=.933 && partner=ENSP00000340879;symbol=RAD1;score=.899 && partner=ENSP00000264169;symbol=ORC4L;score=.899 && partner=ENSP00000372583;symbol=;score=.913 && partner=ENSP00000055077;symbol=RFC2;score=.931 && partner=ENSP00000323099;symbol=ATRIP;score=.984 && partner=ENSP00000216367;symbol=POLE2;score=.899 && partner=ENSP00000360621;symbol=ORC1L;score=.899 && partner=ENSP00000347978;symbol=ERCC5;score=.952 && partner=ENSP00000354945;symbol=MCM10;score=.899 && partner=ENSP00000351284;symbol=RAD52;score=.994 && partner=ENSP00000297431;symbol=ORC5L;score=.899 && partner=ENSP00000264156;symbol=MCM6;score=.899 && partner=ENSP00000374300;symbol=;score=.899 && partner=ENSP00000310520;symbol=ERCC4;score=.944 && partner=ENSP00000229335;symbol=AICDA;score=.777 && partner=ENSP00000258774;symbol=HUS1;score=.899 && partner=ENSP00000265728;symbol=DBF4;score=.908 && partner=ENSP00000369447;symbol=;score=.904 && partner=ENSP00000368438;symbol=PCNA;score=.953 && partner=ENSP00000219097;symbol=ORC6L;score=.917 && partner=ENSP00000296273;symbol=RFC4;score=.92 && partner=ENSP00000223361;symbol=POLD2;score=.912 && partner=ENSP00000348232;symbol=;score=.899 && partner=ENSP00000228955;symbol=GTF2H3;score=.899 && partner=ENSP00000358490;symbol=CD2;score=.85 && partner=ENSP00000373037;symbol=;score=.899 && partner=ENSP00000350491;symbol=PRIM1;score=.935 && partner=ENSP00000350708;symbol=RAD23B;score=.93 && partner=ENSP00000359643;symbol=LPAR3;score=.75 && partner=ENSP00000362131;symbol=RPA4;score=.988 && partner=ENSP00000305480;symbol=FEN1;score=.95 && partner=ENSP00000229854;symbol=MCM3;score=.904 && partner=ENSP00000256443;symbol=CDK7;score=.907 && partner=ENSP00000262105;symbol=MCM4;score=.923 && partner=ENSP00000266970;symbol=CDK2;score=.93 && partner=ENSP00000365764;symbol=;score=.916 && partner=ENSP00000350725;symbol=RAD17;score=.946 && partner=ENSP00000371446;symbol=;score=.999 && partner=ENSP00000351659;symbol=LPAR2;score=.748 && partner=ENSP00000257789;symbol=ORC3L;score=.899 && partner=ENSP00000365275;symbol=;score=.902 && partner=ENSP00000261245;symbol=MNAT1;score=.899 && partner=ENSP00000209728;symbol=CDC6;score=.906 && partner=ENSP00000265465;symbol=POLA2;score=.899 && partner=ENSP00000362317;symbol=CLSPN;score=.941 && partner=ENSP00000351185;symbol=DNA2;score=.956 && partner=ENSP00000359443;symbol=CDC7;score=.916 && partner=ENSP00000278916;symbol=CHEK1;score=.98 && partner=ENSP00000263201;symbol=CDC45L;score=.944 && partner=ENSP00000307288;symbol=MCM7;score=.899 && partner=ENSP00000374139;symbol=PRIM2;score=.899 && partner=ENSP00000338570;symbol=RAD9B;score=.899 && partner=ENSP00000372088;symbol=RAD51;score=.967 && partner=ENSP00000265056;symbol=MCM2;score=.999 && partner=ENSP00000363015;symbol=RPA2;score=.999 && partner=ENSP00000337088;symbol=MEN1;score=.713 && partner=ENSP00000229043;symbol=RFC5;score=.91 && partner=ENSP00000347232;symbol=BLM;score=.866 && partner=ENSP00000256996;symbol=DDB2;score=.899 && partner=ENSP00000369411;symbol=RFC3;score=.899 && partner=ENSP00000221481;symbol=ERCC2;score=.917 && partner=ENSP00000262266;symbol=POLD1;score=.958 && partner=ENSP00000311368;symbol=POLD4;score=.899 && partner=ENSP00000368358;symbol=POLA1;score=.899 GeneCard: TP53   tumor protein p53 (GC17M007512; Chromosome 17:7,512,445-7,531,642) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Functional interaction of p53 and BLM DNA helicase in apoptosis. . . . - STRING: ensp: ENSP00000269305 | interactions: partner=ENSP00000325014;symbol=;score=.707 && partner=ENSP00000311360;symbol=RAD9A;score=.919 && partner=ENSP00000305473;symbol=USP6;score=.821 && partner=ENSP00000317110;symbol=APITD1;score=.759 && partner=ENSP00000301057;symbol=TP53I13;score=.884 && partner=ENSP00000354218;symbol=PPP1R13L;score=.995 && partner=ENSP00000301727;symbol=E4F1;score=.989 && partner=ENSP00000265990;symbol=BTAF1;score=.87 && partner=ENSP00000326417;symbol=KLF4;score=.982 && partner=ENSP00000279101;symbol=CABLES2;score=.944 && partner=ENSP00000253707;symbol=;score=.842 && partner=ENSP00000373382;symbol=HRAS;score=.97 && partner=ENSP00000340210;symbol=CD59;score=.883 && partner=ENSP00000349266;symbol=CIAPIN1;score=.842 && partner=ENSP00000285021;symbol=XPC;score=.965 && partner=ENSP00000278385;symbol=CD44;score=.971 && partner=ENSP00000374189;symbol=;score=.915 && partner=ENSP00000372583;symbol=;score=.995 && partner=ENSP00000339328;symbol=PLAUR;score=.841 && partner=ENSP00000261254;symbol=CCND2;score=.8 && partner=ENSP00000322314;symbol=;score=.868 && partner=ENSP00000274031;symbol=SETD7;score=.992 && partner=ENSP00000262120;symbol=TWSG1;score=.748 && partner=ENSP00000358022;symbol=MCL1;score=.971 && partner=ENSP00000345524;symbol=MAPK9;score=.999 && partner=ENSP00000249396;symbol=SIRT2;score=.965 && partner=ENSP00000368423;symbol=;score=.944 && partner=ENSP00000251849;symbol=RAF1;score=.965 && partner=ENSP00000249636;symbol=PIAS1;score=.998 && partner=ENSP00000374300;symbol=;score=.802 && partner=ENSP00000361099;symbol=;score=.965 && partner=ENSP00000293362;symbol=PSME3;score=.937 && partner=ENSP00000269571;symbol=ERBB2;score=.975 && partner=ENSP00000322788;symbol=MMP1;score=.877 && partner=ENSP00000296946;symbol=T;score=.885 && partner=ENSP00000256078;symbol=KRAS;score=.977 && partner=ENSP00000346316;symbol=HIST1H4I;score=.924 && partner=ENSP00000215659;symbol=MAPK12;score=.917 && partner=ENSP00000367608;symbol=CA9;score=.716 && partner=ENSP00000360826;symbol=CDKN2C;score=.754 && partner=ENSP00000341478;symbol=;score=.94 && partner=ENSP00000360365;symbol=MCTS1;score=.8 && partner=ENSP00000361848;symbol=PLAU;score=.842 && partner=ENSP00000343396;symbol=ING4;score=.998 && partner=ENSP00000366395;symbol=SYVN1;score=.739 && partner=ENSP00000363231;symbol=HMGA1;score=.88 && partner=ENSP00000306163;symbol=ANKRD2;score=.965 && partner=ENSP00000260947;symbol=BARD1;score=.997 && partner=ENSP00000370000;symbol=;score=.897 && partner=ENSP00000269577;symbol=TOP2A;score=.733 && partner=ENSP00000236671;symbol=CTSD;score=.748 && partner=ENSP00000260356;symbol=THBS1;score=.972 && partner=ENSP00000278903;symbol=EI24;score=.852 && partner=ENSP00000259526;symbol=NOV;score=.8 && partner=ENSP00000363548;symbol=CXCL12;score=.853 && partner=ENSP00000371333;symbol=KLRD1;score=.8 && partner=ENSP00000354083;symbol=;score=.847 && partner=ENSP00000310572;symbol=PSMC5;score=.848 && partner=ENSP00000224112;symbol=BAG1;score=.983 && partner=ENSP00000295809;symbol=IFI16;score=.978 && partner=ENSP00000252809;symbol=GDF15;score=.966 && partner=ENSP00000297261;symbol=SHH;score=.853 && partner=ENSP00000256474;symbol=VHL;score=.776 && partner=ENSP00000302665;symbol=IGF1;score=.87 && partner=ENSP00000224237;symbol=VIM;score=.817 && partner=ENSP00000265734;symbol=CDK6;score=.828 && partner=ENSP00000281043;symbol=MYCN;score=.82 && partner=ENSP00000223095;symbol=SERPINE1;score=.855 && partner=ENSP00000329243;symbol=KRT7;score=.746 && partner=ENSP00000324464;symbol=CSNK1D;score=.773 && partner=ENSP00000368699;symbol=ISG15;score=.886 && partner=ENSP00000299339;symbol=CLDN10;score=.899 && partner=ENSP00000329029;symbol=BRF1;score=.854 && partner=ENSP00000262161;symbol=PIAS2;score=.861 && partner=ENSP00000361579;symbol=SLC2A1;score=.8 && partner=ENSP00000268035;symbol=IGF1R;score=.944 && partner=ENSP00000263233;symbol=SYP;score=.742 && partner=ENSP00000363822;symbol=AR;score=.987 && partner=ENSP00000374163;symbol=;score=.999 && partner=ENSP00000372170;symbol=MSX1;score=.942 && partner=ENSP00000313420;symbol=PRKDC;score=.999 && partner=ENSP00000250707;symbol=;score=.964 && partner=ENSP00000309430;symbol=PIGS;score=.81 && partner=ENSP00000362937;symbol=SNHG3-RCC1;score=.777 && partner=ENSP00000314522;symbol=;score=.974 && partner=ENSP00000368960;symbol=;score=.813 && partner=ENSP00000217026;symbol=MYBL2;score=.729 && partner=ENSP00000225688;symbol=RASD1;score=.992 && partner=ENSP00000362362;symbol=CDK9;score=.984 && partner=ENSP00000368186;symbol=HSP90B2P;score=.813 && partner=ENSP00000356438;symbol=PTGS2;score=.986 && partner=ENSP00000329623;symbol=BCL2;score=.999 && partner=ENSP00000348234;symbol=TAT;score=.84 && partner=ENSP00000352064;symbol=KLRC1;score=.8 && partner=ENSP00000368686;symbol=E2F4;score=.865 && partner=ENSP00000344818;symbol=UBC;score=.999 && partner=ENSP00000340373;symbol=DYRK1A;score=.923 && partner=ENSP00000353094;symbol=SDF4;score=.8 && partner=ENSP00000355153;symbol=CDKN2A;score=.999 && partner=ENSP00000247461;symbol=CANX;score=.84 && partner=ENSP00000247970;symbol=PIN1;score=.954 && partner=ENSP00000254480;symbol=SMARCC1;score=.87 && partner=ENSP00000262887;symbol=XRCC1;score=.927 && partner=ENSP00000320347;symbol=ZFP3;score=.813 && partner=ENSP00000221930;symbol=TGFB1;score=.965 && partner=ENSP00000263367;symbol=HNRNPUL1;score=.97 && partner=ENSP00000236959;symbol=ATIC;score=.84 && partner=ENSP00000357625;symbol=BNIP3;score=.947 && partner=ENSP00000268794;symbol=CDH1;score=.82 && partner=ENSP00000337127;symbol=SOD2;score=.853 && partner=ENSP00000347978;symbol=ERCC5;score=.783 && partner=ENSP00000216797;symbol=NFKBIA;score=.989 && partner=ENSP00000264281;symbol=SUMO1;score=.999 && partner=ENSP00000287598;symbol=BUB1B;score=.95 && partner=ENSP00000241393;symbol=CXCR4;score=.859 && partner=ENSP00000353734;symbol=PLAGL1;score=.978 && partner=ENSP00000363676;symbol=RPL11;score=.86 && partner=ENSP00000309181;symbol=CCNE2;score=.759 && partner=ENSP00000302530;symbol=BUB1;score=.785 && partner=ENSP00000339992;symbol=MYB;score=.814 && partner=ENSP00000219066;symbol=NTHL1;score=.841 && partner=ENSP00000263621;symbol=ELANE;score=.853 && partner=ENSP00000222726;symbol=HOXA5;score=.95 && partner=ENSP00000350896;symbol=EPHB4;score=.854 && partner=ENSP00000348056;symbol=UBE2I;score=.999 && partner=ENSP00000344936;symbol=PTTG2;score=.985 && partner=ENSP00000352798;symbol=COL18A1;score=.839 && partner=ENSP00000324693;symbol=GRHL1;score=.734 && partner=ENSP00000263754;symbol=KAT2B;score=.998 && partner=ENSP00000339527;symbol=FOXO3;score=.921 && partner=ENSP00000240055;symbol=NFYB;score=.822 && partner=ENSP00000372415;symbol=;score=.714 && partner=ENSP00000228872;symbol=CDKN1B;score=.824 && partner=ENSP00000310449;symbol=;score=.829 && partner=ENSP00000221476;symbol=CKM;score=.896 && partner=ENSP00000234420;symbol=MSH6;score=.818 && partner=ENSP00000265603;symbol=PERP;score=.815 && partner=ENSP00000372198;symbol=TNFSF10;score=.98 && partner=ENSP00000229794;symbol=MAPK14;score=.967 && partner=ENSP00000240636;symbol=PRB4;score=.853 && partner=ENSP00000360025;symbol=GADD45A;score=.999 && partner=ENSP00000300093;symbol=PLK1;score=.905 && partner=ENSP00000296795;symbol=TLR3;score=.822 && partner=ENSP00000346294;symbol=S100A4;score=.996 && partner=ENSP00000359805;symbol=DST;score=.839 && partner=ENSP00000359424;symbol=CHUK;score=.826 && partner=ENSP00000370290;symbol=ALB;score=.854 && partner=ENSP00000222330;symbol=GSK3A;score=.876 && partner=ENSP00000202788;symbol=MAPKAPK5;score=.715 && partner=ENSP00000304290;symbol=CHRNB1;score=.752 && partner=ENSP00000364802;symbol=HSPA1A;score=.991 && partner=ENSP00000329466;symbol=SIRT7;score=.857 && partner=ENSP00000363571;symbol=MUSK;score=.838 && partner=ENSP00000264331;symbol=TOP2B;score=.915 && partner=ENSP00000350311;symbol=BCL2L11;score=.918 && partner=ENSP00000265709;symbol=ANK1;score=.902 && partner=ENSP00000275525;symbol=IGFBP1;score=.899 && partner=ENSP00000304997;symbol=TRIAP1;score=.937 && partner=ENSP00000332415;symbol=SETD2;score=.956 && partner=ENSP00000343925;symbol=ESR2;score=.812 && partner=ENSP00000357372;symbol=;score=.964 && partner=ENSP00000345347;symbol=HMGB1;score=.945 && partner=ENSP00000360624;symbol=UBE2A;score=.969 && partner=ENSP00000339051;symbol=TPT1;score=.768 && partner=ENSP00000342033;symbol=PDC;score=.929 && partner=ENSP00000231449;symbol=IL4;score=.8 && partner=ENSP00000315644;symbol=TYMS;score=.767 && partner=ENSP00000307786;symbol=CYCS;score=.966 && partner=ENSP00000266085;symbol=TIMP3;score=.986 && partner=ENSP00000363081;symbol=DKK1;score=.853 && partner=ENSP00000362917;symbol=CDC2;score=.998 && partner=ENSP00000346291;symbol=MYO18A;score=.906 && partner=ENSP00000321209;symbol=ZNF274;score=.899 && partner=ENSP00000352516;symbol=DNMT1;score=.768 && partner=ENSP00000367391;symbol=PGA4;score=.8 && partner=ENSP00000332455;symbol=KPNA2;score=.852 && partner=ENSP00000367276;symbol=CKAP2;score=.813 && partner=ENSP00000361186;symbol=TP53RK;score=.993 && partner=ENSP00000311508;symbol=RELA;score=.889 && partner=ENSP00000361021;symbol=PTEN;score=.997 && partner=ENSP00000248935;symbol=GSTT1;score=.815 && partner=ENSP00000317872;symbol=RBBP6;score=.962 && partner=ENSP00000347441;symbol=NR3C2;score=.833 && partner=ENSP00000225792;symbol=DDX5;score=.754 && partner=ENSP00000314487;symbol=SEMA3B;score=.842 && partner=ENSP00000298139;symbol=WRN;score=.995 && partner=ENSP00000302812;symbol=SP7;score=.813 && partner=ENSP00000355759;symbol=PARP1;score=.999 && partner=ENSP00000226574;symbol=NFKB1;score=.882 && partner=ENSP00000343807;symbol=HNF4A;score=.946 && partner=ENSP00000325690;symbol=CARM1;score=.819 && partner=ENSP00000215631;symbol=GADD45B;score=.797 && partner=ENSP00000322142;symbol=ING5;score=.97 && partner=ENSP00000288207;symbol=CCNB2;score=.838 && partner=ENSP00000309572;symbol=TERT;score=.997 && partner=ENSP00000371152;symbol=ASAH1;score=.8 && partner=ENSP00000258149;symbol=MDM2;score=.999 && partner=ENSP00000299855;symbol=MMP3;score=.854 && partner=ENSP00000300651;symbol=MED1;score=.982 && partner=ENSP00000370376;symbol=DUT;score=.819 && partner=ENSP00000335652;symbol=NF2;score=.803 && partner=ENSP00000288602;symbol=BRAF;score=.86 && partner=ENSP00000369447;symbol=;score=.975 && partner=ENSP00000200453;symbol=PPP1R15A;score=.823 && partner=ENSP00000251871;symbol=MED17;score=.809 && partner=ENSP00000367545;symbol=TP73;score=.722 && partner=ENSP00000260303;symbol=;score=.965 && partner=ENSP00000223836;symbol=AK1;score=.823 && partner=ENSP00000231004;symbol=LOX;score=.891 && partner=ENSP00000354916;symbol=CDC14A;score=.769 && partner=ENSP00000351894;symbol=NCOA6;score=.82 && partner=ENSP00000263773;symbol=FNBP4;score=.875 && partner=ENSP00000349705;symbol=TOP3B;score=.765 && partner=ENSP00000351015;symbol=NF1;score=.977 && partner=ENSP00000346340;symbol=COPS8;score=.881 && partner=ENSP00000264709;symbol=DNMT3A;score=.894 && partner=ENSP00000362768;symbol=RBL1;score=.823 && partner=ENSP00000246789;symbol=PRMT1;score=.869 && partner=ENSP00000269200;symbol=ADCYAP1;score=.818 && partner=ENSP00000265164;symbol=CASP6;score=.81 && partner=ENSP00000265348;symbol=CUL7;score=.981 && partner=ENSP00000361626;symbol=YBX1;score=.997 && partner=ENSP00000253063;symbol=SESN2;score=.874 && partner=ENSP00000365210;symbol=CCNB3;score=.838 && partner=ENSP00000330237;symbol=CASP9;score=.939 && partner=ENSP00000309766;symbol=HDAC7;score=.939 && partner=ENSP00000254722;symbol=SERPINF1;score=.896 && partner=ENSP00000356377;symbol=;score=.959 && partner=ENSP00000202017;symbol=PDRG1;score=.895 && partner=ENSP00000341551;symbol=SMAD4;score=.825 && partner=ENSP00000355958;symbol=DTL;score=.84 && partner=ENSP00000371479;symbol=;score=.999 && partner=ENSP00000352157;symbol=MAPK10;score=.989 && partner=ENSP00000206249;symbol=ESR1;score=.988 && partner=ENSP00000352271;symbol=XRCC2;score=.712 && partner=ENSP00000244745;symbol=SOX4;score=.888 && partner=ENSP00000343023;symbol=SP100;score=.926 && partner=ENSP00000311032;symbol=CASP3;score=.946 && partner=ENSP00000328088;symbol=PAWR;score=.758 && partner=ENSP00000341189;symbol=PTK2;score=.966 && partner=ENSP00000313199;symbol=HNRNPD;score=.883 && partner=ENSP00000274813;symbol=MUT;score=.734 && partner=ENSP00000370783;symbol=;score=.951 && partner=ENSP00000354912;symbol=MAGEE1;score=.736 && partner=ENSP00000306920;symbol=GLB1;score=.812 && partner=ENSP00000281321;symbol=POU4F2;score=.841 && partner=ENSP00000314946;symbol=RPRM;score=.963 && partner=ENSP00000354587;symbol=;score=.958 && partner=ENSP00000347232;symbol=BLM;score=.999 && partner=ENSP00000327048;symbol=MAF;score=.883 && partner=ENSP00000300305;symbol=RUNX1;score=.757 && partner=ENSP00000225402;symbol=AATF;score=.899 && partner=ENSP00000304146;symbol=DCC;score=.714 && partner=ENSP00000167588;symbol=KRT20;score=.744 && partner=ENSP00000324856;symbol=STK11;score=.929 && partner=ENSP00000321656;symbol=CDC25C;score=.989 && partner=ENSP00000164227;symbol=BCL3;score=.902 && partner=ENSP00000293288;symbol=BAX;score=.993 && partner=ENSP00000295400;symbol=TGFA;score=.962 && partner=ENSP00000364389;symbol=CDC14B;score=.963 && partner=ENSP00000366799;symbol=CYFIP2;score=.945 && partner=ENSP00000288071;symbol=DDX19B;score=.883 && partner=ENSP00000329528;symbol=XRCC5;score=.984 && partner=ENSP00000265963;symbol=GTF2H1;score=.923 && partner=ENSP00000326598;symbol=TSP50;score=.866 && partner=ENSP00000303706;symbol=CDC25A;score=.987 && partner=ENSP00000270861;symbol=PLK4;score=.844 && partner=ENSP00000173785;symbol=KLF6;score=.823 && partner=ENSP00000352637;symbol=;score=.947 && partner=ENSP00000239938;symbol=EGR1;score=.974 && partner=ENSP00000316224;symbol=ALS2CR8;score=.867 && partner=ENSP00000304447;symbol=PTCRA;score=.748 && partner=ENSP00000179259;symbol=C12orf5;score=.758 && partner=ENSP00000283921;symbol=HOXA10;score=.839 && partner=ENSP00000345702;symbol=NFYA;score=.903 && partner=ENSP00000369147;symbol=APTX;score=.942 && partner=ENSP00000363291;symbol=MAPK8;score=.999 && partner=ENSP00000317272;symbol=MET;score=.803 && partner=ENSP00000329213;symbol=SIVA1;score=.925 && partner=ENSP00000330349;symbol=DDX41;score=.829 && partner=ENSP00000361508;symbol=PLTP;score=.899 && partner=ENSP00000326366;symbol=PSEN1;score=.856 && partner=ENSP00000370451;symbol=;score=.965 && partner=ENSP00000314151;symbol=KLK3;score=.863 && partner=ENSP00000320147;symbol=EZH2;score=.88 && partner=ENSP00000267169;symbol=DIABLO;score=.803 && partner=ENSP00000364597;symbol=PADI4;score=.845 && partner=ENSP00000346542;symbol=GNL3;score=.985 && partner=ENSP00000303844;symbol=CNBP;score=.84 && partner=ENSP00000370473;symbol=IGFBP3;score=.98 && partner=ENSP00000353166;symbol=;score=.807 && partner=ENSP00000297518;symbol=CDK5;score=.971 && partner=ENSP00000368752;symbol=PRNP;score=.8 && partner=ENSP00000337834;symbol=TP53I3;score=.92 && partner=ENSP00000338018;symbol=HIF1A;score=.999 && partner=ENSP00000265428;symbol=WWP1;score=.872 && partner=ENSP00000287295;symbol=AIFM1;score=.817 && partner=ENSP00000360765;symbol=NOTCH1;score=.964 && partner=ENSP00000326519;symbol=C16orf53;score=.708 && partner=ENSP00000280696;symbol=THRB;score=.756 && partner=ENSP00000357283;symbol=LMNA;score=.769 && partner=ENSP00000229307;symbol=NANOGP8;score=.895 && partner=ENSP00000269122;symbol=CLTC;score=.853 && partner=ENSP00000291700;symbol=S100B;score=.985 && partner=ENSP00000252506;symbol=GADD45G;score=.727 && partner=ENSP00000266659;symbol=GLIPR1;score=.734 && partner=ENSP00000325120;symbol=PGR;score=.821 && partner=ENSP00000352999;symbol=BBC3;score=.993 && partner=ENSP00000351092;symbol=;score=.917 && partner=ENSP00000351486;symbol=NTRK1;score=.867 && partner=ENSP00000354522;symbol=TOP1;score=.995 && partner=ENSP00000302961;symbol=HSPA4;score=.955 && partner=ENSP00000264657;symbol=STAT3;score=.944 && partner=ENSP00000251810;symbol=RRM2B;score=.986 && partner=ENSP00000351209;symbol=EPHA2;score=.864 && partner=ENSP00000263551;symbol=HIPK2;score=.999 && partner=ENSP00000302111;symbol=MGMT;score=.966 && partner=ENSP00000276925;symbol=CDKN2B;score=.83 && partner=ENSP00000318217;symbol=DDR1;score=.8 && partner=ENSP00000355645;symbol=ACTA1;score=.72 && partner=ENSP00000276440;symbol=DOCK5;score=.804 && partner=ENSP00000344823;symbol=TCF7L2;score=.883 && partner=ENSP00000301323;symbol=RECQL4;score=.867 && partner=ENSP00000324804;symbol=PPP2R1A;score=.804 && partner=ENSP00000212015;symbol=SIRT1;score=.998 && partner=ENSP00000369050;symbol=CYP1A1;score=.784 && partner=ENSP00000320134;symbol=;score=.92 && partner=ENSP00000365275;symbol=;score=.983 && partner=ENSP00000296930;symbol=NPM1;score=.998 && partner=ENSP00000276072;symbol=TAF1;score=.805 && partner=ENSP00000263253;symbol=EP300;score=.999 && partner=ENSP00000307183;symbol=ING2;score=.915 && partner=ENSP00000356694;symbol=FASLG;score=.854 && partner=ENSP00000254958;symbol=JAG1;score=.765 && partner=ENSP00000357748;symbol=BCCIP;score=.892 && partner=ENSP00000232458;symbol=ECT2;score=.84 && partner=ENSP00000278916;symbol=CHEK1;score=.999 && partner=ENSP00000332973;symbol=SMAD3;score=.818 && partner=ENSP00000332353;symbol=PTCH1;score=.81 && partner=ENSP00000173229;symbol=NTN1;score=.859 && partner=ENSP00000264731;symbol=TP63;score=.724 && partner=ENSP00000357697;symbol=S100A2;score=.984 && partner=ENSP00000372088;symbol=RAD51;score=.997 && partner=ENSP00000339587;symbol=DFNA5;score=.887 && partner=ENSP00000262854;symbol=HUWE1;score=.937 && partner=ENSP00000335153;symbol=HSP90AA2;score=.999 && partner=ENSP00000367207;symbol=MYC;score=.992 && partner=ENSP00000343939;symbol=HEPH;score=.864 && partner=ENSP00000352257;symbol=XRCC6;score=.993 && partner=ENSP00000373335;symbol=;score=.98 && partner=ENSP00000314080;symbol=HIC1;score=.996 && partner=ENSP00000354170;symbol=FGFR3;score=.802 && partner=ENSP00000296755;symbol=MAP1B;score=.927 && partner=ENSP00000252785;symbol=SCO2;score=.895 && partner=ENSP00000221481;symbol=ERCC2;score=.953 && partner=ENSP00000362649;symbol=HDAC1;score=.998 && partner=ENSP00000354634;symbol=GTSE1;score=.924 && partner=ENSP00000344925;symbol=HTATIP2;score=.91 && partner=ENSP00000290866;symbol=ACE;score=.815 && partner=ENSP00000369135;symbol=SLCO6A1;score=.789 && partner=ENSP00000363200;symbol=NCOA4;score=.863 && partner=ENSP00000362082;symbol=CCND3;score=.804 && partner=ENSP00000311648;symbol=UGT8;score=.7 && partner=ENSP00000296511;symbol=ANXA5;score=.75 && partner=ENSP00000369716;symbol=CHD3;score=.804 && partner=ENSP00000257430;symbol=APC;score=.818 && partner=ENSP00000299759;symbol=RRAD;score=.827 && partner=ENSP00000300035;symbol=KIAA0101;score=.853 && partner=ENSP00000364270;symbol=XPA;score=.821 && partner=ENSP00000361275;symbol=PLK3;score=.999 && partner=ENSP00000293308;symbol=KRT8;score=.891 && partner=ENSP00000367090;symbol=;score=.923 && partner=ENSP00000278823;symbol=MTA2;score=.91 && partner=ENSP00000333873;symbol=CIB1;score=.724 && partner=ENSP00000283871;symbol=HGD;score=.74 && partner=ENSP00000352323;symbol=RASSF1;score=.812 && partner=ENSP00000337432;symbol=IL17F;score=.747 && partner=ENSP00000374402;symbol=;score=.941 && partner=ENSP00000370315;symbol=;score=.93 && partner=ENSP00000230354;symbol=TBP;score=.999 && partner=ENSP00000360776;symbol=B4GALT5;score=.8 && partner=ENSP00000284384;symbol=PRKCA;score=.946 && partner=ENSP00000364929;symbol=ING1;score=.997 && partner=ENSP00000364477;symbol=MAP3K8;score=.854 && partner=ENSP00000301838;symbol=FADD;score=.853 && partner=ENSP00000340989;symbol=SFN;score=.977 && partner=ENSP00000262238;symbol=YY1;score=.952 && partner=ENSP00000333633;symbol=MTA1;score=.718 && partner=ENSP00000359663;symbol=CD40LG;score=.921 && partner=ENSP00000323421;symbol=SMC1A;score=.8 && partner=ENSP00000293275;symbol=CCL16;score=.855 && partner=ENSP00000284629;symbol=ASZ1;score=.8 && partner=ENSP00000337853;symbol=TRAF6;score=.922 && partner=ENSP00000371310;symbol=USP7;score=.999 && partner=ENSP00000306561;symbol=OGG1;score=.805 && partner=ENSP00000353864;symbol=PAK3;score=.923 && partner=ENSP00000299207;symbol=;score=.813 && partner=ENSP00000288943;symbol=DUSP2;score=.91 && partner=ENSP00000263967;symbol=PIK3CA;score=.977 && partner=ENSP00000333602;symbol=EP400;score=.946 && partner=ENSP00000353427;symbol=NR4A1;score=.751 && partner=ENSP00000261799;symbol=PDGFRB;score=.915 && partner=ENSP00000298556;symbol=HPRT1;score=.768 && partner=ENSP00000215832;symbol=MAPK1;score=.987 && partner=ENSP00000071246;symbol=PRDM1;score=.839 && partner=ENSP00000299198;symbol=CKB;score=.84 && partner=ENSP00000216714;symbol=APEX1;score=.992 && partner=ENSP00000353622;symbol=SIN3A;score=.933 && partner=ENSP00000351956;symbol=MUC2;score=.746 && partner=ENSP00000353918;symbol=NKX2-1;score=.756 && partner=ENSP00000237538;symbol=CD58;score=.84 && partner=ENSP00000305480;symbol=FEN1;score=.868 && partner=ENSP00000346490;symbol=CUL9;score=.956 && partner=ENSP00000368181;symbol=;score=.965 && partner=ENSP00000342105;symbol=DYRK2;score=.918 && partner=ENSP00000319788;symbol=NQO1;score=.977 && partner=ENSP00000311080;symbol=SKP2;score=.8 && partner=ENSP00000332643;symbol=NDN;score=.965 && partner=ENSP00000231504;symbol=PPP2CA;score=.838 && partner=ENSP00000370749;symbol=;score=.812 && partner=ENSP00000228253;symbol=SMARCD1;score=.848 && partner=ENSP00000298700;symbol=CASP7;score=.84 && partner=ENSP00000286122;symbol=BANP;score=.981 && partner=ENSP00000327072;symbol=TAF1A;score=.702 && partner=ENSP00000371231;symbol=LITAF;score=.884 && partner=ENSP00000356641;symbol=RFWD2;score=.767 && partner=ENSP00000319027;symbol=CCNC;score=.767 && partner=ENSP00000339566;symbol=HIST1H1C;score=.911 && partner=ENSP00000216629;symbol=BDKRB1;score=.8 && partner=ENSP00000360942;symbol=FAS;score=.985 && partner=ENSP00000344215;symbol=TP53INP1;score=.997 && partner=ENSP00000324404;symbol=TCHP;score=.967 && partner=ENSP00000256637;symbol=SORT1;score=.914 && partner=ENSP00000363015;symbol=RPA2;score=.728 && partner=ENSP00000249910;symbol=MBD4;score=.827 && partner=ENSP00000328829;symbol=LMLN;score=.936 && partner=ENSP00000256996;symbol=DDB2;score=.966 && partner=ENSP00000340560;symbol=RAD51L1;score=.898 && partner=ENSP00000346032;symbol=ANXA2;score=.839 && partner=ENSP00000329390;symbol=;score=.947 && partner=ENSP00000339917;symbol=TAF9B;score=.774 && partner=ENSP00000340019;symbol=HSPD1P4;score=.8 && partner=ENSP00000353375;symbol=MAP4;score=.923 && partner=ENSP00000367933;symbol=;score=.896 && partner=ENSP00000327647;symbol=CRADD;score=.762 && partner=ENSP00000343376;symbol=OSGIN1;score=.845 && partner=ENSP00000313644;symbol=MAP4K4;score=.857 && partner=ENSP00000202556;symbol=PPP1R13B;score=.975 && partner=ENSP00000231790;symbol=MLH1;score=.954 && partner=ENSP00000344868;symbol=SEPT7;score=.737 && partner=ENSP00000259021;symbol=MYST2;score=.914 && partner=ENSP00000302707;symbol=FPR1;score=.8 && partner=ENSP00000257904;symbol=CDK4;score=.992 && partner=ENSP00000263681;symbol=POLD3;score=.938 && partner=ENSP00000337904;symbol=PCBP4;score=.899 && partner=ENSP00000375035;symbol=IGHV5-51;score=.71 && partner=ENSP00000358838;symbol=GSTM1;score=.818 && partner=ENSP00000013807;symbol=ERCC1;score=.812 && partner=ENSP00000251968;symbol=TSG101;score=.838 && partner=ENSP00000365909;symbol=BMI1;score=.797 && partner=ENSP00000357643;symbol=MKI67;score=.818 && partner=ENSP00000328835;symbol=TOP1MT;score=.765 && partner=ENSP00000323099;symbol=ATRIP;score=.938 && partner=ENSP00000344266;symbol=FHL2;score=.99 && partner=ENSP00000359212;symbol=LBX1;score=.8 && partner=ENSP00000339672;symbol=MMP13;score=.827 && partner=ENSP00000306734;symbol=SESN1;score=.837 && partner=ENSP00000321591;symbol=AURKA;score=.993 && partner=ENSP00000365095;symbol=;score=.813 && partner=ENSP00000353560;symbol=TP53BP2;score=.999 && partner=ENSP00000309103;symbol=BAD;score=.757 && partner=ENSP00000270142;symbol=SOD1;score=.8 && partner=ENSP00000361959;symbol=WISP2;score=.848 && partner=ENSP00000245960;symbol=CDC25B;score=.726 && partner=ENSP00000340671;symbol=DDIT3;score=.835 && partner=ENSP00000270202;symbol=AKT1;score=.948 && partner=ENSP00000338927;symbol=ZNF385A;score=.795 && partner=ENSP00000368100;symbol=RAD50;score=.819 && partner=ENSP00000272771;symbol=TMEFF2;score=.84 && partner=ENSP00000309503;symbol=YWHAZ;score=.899 && partner=ENSP00000359204;symbol=LPPR4;score=.981 && partner=ENSP00000268058;symbol=PML;score=.999 && partner=ENSP00000327255;symbol=PPM1A;score=.856 && partner=ENSP00000353344;symbol=ETS2;score=.915 && partner=ENSP00000231509;symbol=NR3C1;score=.92 && partner=ENSP00000260810;symbol=TOPBP1;score=.747 && partner=ENSP00000344537;symbol=TAF6;score=.832 && partner=ENSP00000370153;symbol=KCNQ1;score=.815 && partner=ENSP00000265433;symbol=NBN;score=.8 && partner=ENSP00000368438;symbol=PCNA;score=.988 && partner=ENSP00000353090;symbol=SIAH1;score=.954 && partner=ENSP00000337001;symbol=NFKB2;score=.756 && partner=ENSP00000275493;symbol=EGFR;score=.974 && partner=ENSP00000370408;symbol=CDX2;score=.738 && partner=ENSP00000363668;symbol=DAXX;score=.88 && partner=ENSP00000355627;symbol=AGT;score=.813 && partner=ENSP00000014914;symbol=GPRC5A;score=.842 && partner=ENSP00000302486;symbol=MAP2K1;score=.723 && partner=ENSP00000340330;symbol=KAT5;score=.996 && partner=ENSP00000369867;symbol=CD68;score=.775 && partner=ENSP00000297185;symbol=HSPA9;score=.992 && partner=ENSP00000323822;symbol=FBXO11;score=.725 && partner=ENSP00000250495;symbol=NEDD8;score=.881 && partner=ENSP00000257020;symbol=RBMX2;score=.84 && partner=ENSP00000355124;symbol=KRT19;score=.95 && partner=ENSP00000253144;symbol=ZNF331;score=.842 && partner=ENSP00000340956;symbol=HIPK1;score=.81 && partner=ENSP00000261948;symbol=ZNF346;score=.851 && partner=ENSP00000353059;symbol=APAF1;score=.976 && partner=ENSP00000338606;symbol=SMUG1;score=.872 && partner=ENSP00000373625;symbol=;score=.922 && partner=ENSP00000269518;symbol=PMAIP1;score=.953 && partner=ENSP00000282259;symbol=JMY;score=.901 && partner=ENSP00000350512;symbol=COPS5;score=.997 && partner=ENSP00000227758;symbol=BIRC2;score=.828 && partner=ENSP00000364805;symbol=HSPA1L;score=.764 && partner=ENSP00000297265;symbol=CHMP4C;score=.852 && partner=ENSP00000365230;symbol=BCL2L1;score=.997 && partner=ENSP00000318195;symbol=NCL;score=.972 && partner=ENSP00000355954;symbol=ATF3;score=.982 && partner=ENSP00000260630;symbol=CYP1B1;score=.732 && partner=ENSP00000310036;symbol=CD34;score=.81 && partner=ENSP00000312296;symbol=;score=.969 && partner=ENSP00000306682;symbol=PPM1D;score=.973 && partner=ENSP00000354618;symbol=PRC1;score=.848 && partner=ENSP00000009180;symbol=CD9;score=.888 && partner=ENSP00000315743;symbol=CCNG2;score=.775 && partner=ENSP00000220940;symbol=GML;score=.949 && partner=ENSP00000219070;symbol=MMP2;score=.853 && partner=ENSP00000265465;symbol=POLA2;score=.744 && partner=ENSP00000351905;symbol=TGFBR2;score=.767 && partner=ENSP00000240100;symbol=DUSP4;score=.832 && partner=ENSP00000217958;symbol=PSMD10;score=.95 && partner=ENSP00000216639;symbol=VRK1;score=.992 && partner=ENSP00000196968;symbol=GSTP1;score=.952 && partner=ENSP00000304226;symbol=HIPK3;score=.749 && partner=ENSP00000370233;symbol=;score=.966 && partner=ENSP00000358140;symbol=EIF3A;score=.706 && partner=ENSP00000342011;symbol=XRCC4;score=.811 && partner=ENSP00000301905;symbol=PBK;score=.778 && partner=ENSP00000355249;symbol=E2F2;score=.831 && partner=ENSP00000372023;symbol=CHEK2;score=.999 && partner=ENSP00000371502;symbol=CREBBP;score=.999 && partner=ENSP00000201031;symbol=TFAP2C;score=.726 && partner=ENSP00000325863;symbol=MRE11A;score=.908 && partner=ENSP00000227155;symbol=CD82;score=.965 && partner=ENSP00000296444;symbol=SHISA5;score=.905 && partner=ENSP00000353770;symbol=RRM2;score=.837 && partner=ENSP00000319977;symbol=NDRG1;score=.896 && partner=ENSP00000262643;symbol=CCNE1;score=.887 && partner=ENSP00000337056;symbol=CDKN2D;score=.738 && partner=ENSP00000344635;symbol=CCNG1;score=.989 && partner=ENSP00000312664;symbol=CASP2;score=.906 && partner=ENSP00000306245;symbol=FOS;score=.977 && partner=ENSP00000372035;symbol=LATS2;score=.949 && partner=ENSP00000225983;symbol=HDAC5;score=.887 && partner=ENSP00000324173;symbol=HSPA5;score=.757 && partner=ENSP00000232165;symbol=UBE3A;score=.995 && partner=ENSP00000364519;symbol=TFDP1;score=.985 && partner=ENSP00000361422;symbol=ZMIZ1;score=.845 && partner=ENSP00000333685;symbol=MAPK11;score=.983 && partner=ENSP00000362345;symbol=AIFM2;score=.814 && partner=ENSP00000279247;symbol=CAPN1;score=.756 && partner=ENSP00000307940;symbol=EEF2;score=.928 && partner=ENSP00000262809;symbol=ELL;score=.885 && partner=ENSP00000273074;symbol=;score=.793 && partner=ENSP00000265849;symbol=PMS2;score=.719 && partner=ENSP00000236996;symbol=CREB1;score=.921 && partner=ENSP00000219548;symbol=STUB1;score=.816 && partner=ENSP00000310263;symbol=TNFRSF10D;score=.963 && partner=ENSP00000368571;symbol=;score=.885 && partner=ENSP00000333406;symbol=WWOX;score=.993 && partner=ENSP00000291823;symbol=HIPK4;score=.912 && partner=ENSP00000315559;symbol=NUPR1;score=.95 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000353735;symbol=TOPORS;score=.997 && partner=ENSP00000331987;symbol=;score=.762 && partner=ENSP00000256495;symbol=BHLHE40;score=.708 && partner=ENSP00000302523;symbol=;score=.783 && partner=ENSP00000361043;symbol=RAD54L;score=.846 && partner=ENSP00000268605;symbol=NOL3;score=.737 && partner=ENSP00000364209;symbol=MAGED2;score=.875 && partner=ENSP00000372221;symbol=SERPINB5;score=.965 && partner=ENSP00000265724;symbol=ABCB1;score=.996 && partner=ENSP00000264498;symbol=FGF2;score=.86 && partner=ENSP00000263083;symbol=DPH1;score=.76 && partner=ENSP00000326581;symbol=ZIM2;score=.94 && partner=ENSP00000263735;symbol=EPCAM;score=.85 && partner=ENSP00000368453;symbol=EIF2AK2;score=.999 && partner=ENSP00000344259;symbol=UBE2L3;score=.823 && partner=ENSP00000356196;symbol=;score=.996 && partner=ENSP00000336702;symbol=EIF5AL1;score=.84 && partner=ENSP00000344456;symbol=CTNNB1;score=.863 && partner=ENSP00000255465;symbol=CCNA1;score=.955 && partner=ENSP00000362674;symbol=HDAC8;score=.74 && partner=ENSP00000218157;symbol=;score=.915 && partner=ENSP00000321767;symbol=;score=.725 && partner=ENSP00000302100;symbol=LGALS4;score=.763 && partner=ENSP00000364801;symbol=ENSG00000204388;score=.768 && partner=ENSP00000262506;symbol=CSNK2A2;score=.949 && partner=ENSP00000354159;symbol=NLRC4;score=.884 && partner=ENSP00000369552;symbol=;score=.855 && partner=ENSP00000364310;symbol=H2AFX;score=.933 && partner=ENSP00000350720;symbol=SMARCA4;score=.943 && partner=ENSP00000356151;symbol=MDM4;score=.999 && partner=ENSP00000353679;symbol=MME;score=.734 && partner=ENSP00000229239;symbol=GAPDHL6;score=.8 && partner=ENSP00000371446;symbol=;score=.999 && partner=ENSP00000370193;symbol=TAF9;score=.997 && partner=ENSP00000360707;symbol=;score=.77 && partner=ENSP00000209728;symbol=CDC6;score=.802 && partner=ENSP00000320002;symbol=BDNF;score=.924 && partner=ENSP00000263025;symbol=MAPK3;score=.985 && partner=ENSP00000246149;symbol=KDM1;score=.929 && partner=ENSP00000252029;symbol=TYMP;score=.809 && partner=ENSP00000274026;symbol=CCNA2;score=.973 && partner=ENSP00000263464;symbol=BIRC3;score=.794 && partner=ENSP00000248553;symbol=HSPB1;score=.726 && partner=ENSP00000321239;symbol=RCHY1;score=.998 && partner=ENSP00000370163;symbol=;score=.8 && partner=ENSP00000264073;symbol=ELAVL1;score=.884 && partner=ENSP00000263620;symbol=ARID3A;score=.948 && partner=ENSP00000366915;symbol=KLF5;score=.85 && partner=ENSP00000356024;symbol=CR2;score=.956 && partner=ENSP00000222304;symbol=HAMP;score=.859 && partner=ENSP00000370171;symbol=POMC;score=.853 && partner=ENSP00000313046;symbol=BAI1;score=.965 && partner=ENSP00000364398;symbol=HABP4;score=.936 && partner=ENSP00000167586;symbol=KRT14;score=.73 && partner=ENSP00000259882;symbol=;score=.847 && partner=ENSP00000361423;symbol=ABL1;score=.995 && partner=ENSP00000363498;symbol=;score=.9 && partner=ENSP00000318351;symbol=BCKDHB;score=.965 && partner=ENSP00000258743;symbol=IL6;score=.877 && partner=ENSP00000366165;symbol=;score=.936 && partner=ENSP00000329357;symbol=SP1;score=.999 && partner=ENSP00000261537;symbol=MIB1;score=.806 && partner=ENSP00000308450;symbol=CDC20;score=.887 && partner=ENSP00000342087;symbol=FHIT;score=.821 && partner=ENSP00000298552;symbol=TSC1;score=.956 && partner=ENSP00000351672;symbol=;score=.965 && partner=ENSP00000025008;symbol=RB1CC1;score=.889 && partner=ENSP00000372411;symbol=CTBP1;score=.883 && partner=ENSP00000365999;symbol=ENSG00000206503;score=.883 && partner=ENSP00000252242;symbol=KRT5;score=.81 && partner=ENSP00000292520;symbol=NFKBIL2;score=.714 && partner=ENSP00000364005;symbol=RP11-35N6.1;score=.948 && partner=ENSP00000260309;symbol=CASP1;score=.964 && partner=ENSP00000362816;symbol=;score=.999 && partner=ENSP00000239223;symbol=DUSP1;score=.855 && partner=ENSP00000364976;symbol=CKS2;score=.84 && partner=ENSP00000227507;symbol=CCND1;score=.992 && partner=ENSP00000364772;symbol=;score=.772 && partner=ENSP00000354394;symbol=STAT1;score=.946 && partner=ENSP00000264832;symbol=ICAM1;score=.853 && partner=ENSP00000345571;symbol=E2F1;score=.997 && partner=ENSP00000348089;symbol=ERCC6;score=.915 && partner=ENSP00000311505;symbol=IQCB1;score=.854 && partner=ENSP00000358925;symbol=PSRC1;score=.929 && partner=ENSP00000231751;symbol=LTF;score=.8 && partner=ENSP00000262982;symbol=CSE1L;score=.816 && partner=ENSP00000356529;symbol=RGS16;score=.889 && partner=ENSP00000370938;symbol=CDK8;score=.762 && partner=ENSP00000223029;symbol=AIMP2;score=.855 && partner=ENSP00000002829;symbol=SEMA3F;score=.8 && partner=ENSP00000311221;symbol=ZMAT3;score=.966 && partner=ENSP00000233146;symbol=MSH2;score=.973 && partner=ENSP00000232014;symbol=BCL6;score=.966 && partner=ENSP00000358596;symbol=DUSP5;score=.873 && partner=ENSP00000262069;symbol=HDAC9;score=.816 && partner=ENSP00000365572;symbol=NME2;score=.966 && partner=ENSP00000263334;symbol=PAX8;score=.74 && partner=ENSP00000353863;symbol=ZNF148;score=.976 && partner=ENSP00000296417;symbol=H2AFZ;score=.886 && partner=ENSP00000333568;symbol=PRKD1;score=.813 && partner=ENSP00000343412;symbol=BRE;score=.737 && partner=ENSP00000353878;symbol=BCL2L7P1;score=.996 && partner=ENSP00000360316;symbol=DHCR24;score=.961 && partner=ENSP00000221452;symbol=RELB;score=.756 && partner=ENSP00000162749;symbol=TNFRSF1A;score=.905 && partner=ENSP00000218388;symbol=TIMP1;score=.878 && partner=ENSP00000360242;symbol=XIAP;score=.819 && partner=ENSP00000351554;symbol=HMMR;score=.895 && partner=ENSP00000256443;symbol=CDK7;score=.991 && partner=ENSP00000266970;symbol=CDK2;score=.998 && partner=ENSP00000299402;symbol=APBB1;score=.918 && partner=ENSP00000293195;symbol=FDXR;score=.889 && partner=ENSP00000351750;symbol=;score=.853 && partner=ENSP00000324578;symbol=ETS1;score=.953 && partner=ENSP00000262160;symbol=SMAD2;score=.955 && partner=ENSP00000351273;symbol=CASP8;score=.971 && partner=ENSP00000227378;symbol=HSPA8;score=.981 && partner=ENSP00000340883;symbol=SMARCB1;score=.764 && partner=ENSP00000374828;symbol=ENSG00000211647;score=.899 && partner=ENSP00000253727;symbol=NR1H2;score=.965 && partner=ENSP00000261245;symbol=MNAT1;score=.761 && partner=ENSP00000368933;symbol=TFAP2A;score=.777 && partner=ENSP00000368664;symbol=C13orf15;score=.843 && partner=ENSP00000366413;symbol=POU4F1;score=.888 && partner=ENSP00000343392;symbol=XRCC3;score=.761 && partner=ENSP00000366708;symbol=PARK7;score=.855 && partner=ENSP00000371183;symbol=;score=.853 && partner=ENSP00000329009;symbol=PPP2R5C;score=.804 && partner=ENSP00000299613;symbol=WEE1;score=.736 && partner=ENSP00000371400;symbol=CSNK2A1P;score=.979 && partner=ENSP00000306070;symbol=NUDT6;score=.856 && partner=ENSP00000216330;symbol=FKBP3;score=.728 && partner=ENSP00000360216;symbol=DNTT;score=.818 && partner=ENSP00000331327;symbol=WT1;score=.995 && partner=ENSP00000311921;symbol=TP53AIP1;score=.944 && partner=ENSP00000369497;symbol=BRCA2;score=.997 && partner=ENSP00000290429;symbol=MCAT;score=.914 && partner=ENSP00000262971;symbol=PIAS4;score=.97 && partner=ENSP00000256925;symbol=CABLES1;score=.873 && partner=ENSP00000292599;symbol=MAML1;score=.84 && partner=ENSP00000323065;symbol=GADD45GIP1;score=.853 && partner=ENSP00000357709;symbol=S100A6;score=.928 && partner=ENSP00000172229;symbol=NGFR;score=.924 && partner=ENSP00000281030;symbol=THRSP;score=.8 && partner=ENSP00000267163;symbol=RB1;score=.968 && partner=ENSP00000262133;symbol=RBL2;score=.821 && partner=ENSP00000281708;symbol=FBXW7;score=.712 && partner=ENSP00000320566;symbol=ING3;score=.78 && partner=ENSP00000300408;symbol=PHB;score=.953 && partner=ENSP00000268717;symbol=COPS3;score=.793 && partner=ENSP00000324806;symbol=GSK3B;score=.994 && partner=ENSP00000370542;symbol=SDC1;score=.739 && partner=ENSP00000368358;symbol=POLA1;score=.904 && partner=ENSP00000336417;symbol=HIST2H2BE;score=.868 GeneCard: ATR   ataxia telangiectasia and Rad3 related (GC03M143650; Chromosome 3:143,650,767-143,780,358) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: ATR and ATM-dependent movement of BLM helicase during replication stress ensures optimal ATM activation and 53BP1 focus formation. . . . GeneCard: ATRX   alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) (GC0XM076567; Chromosome X:76,647,012-76,928,375) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: BLM is an early responder to DNA double-strand breaks. . . . GeneCard: BAX   BCL2-associated X protein (GC19P054149; Chromosome 19:54,149,929-54,156,867) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Genetic progression in microsatellite instability high (MSI-H) colon cancers correlates with clinico-pathological parameters: A study of the TGRbetaRII, BAX, hMSH3, hMSH6, IGFIIR and BLM genes. . . . GeneCard: BRCA2   breast cancer 2, early onset (GC13P031787; Chromosome 13:31,787,617-31,871,809) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000369497 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.873 && partner=ENSP00000311360;symbol=RAD9A;score=.87 && partner=ENSP00000361021;symbol=PTEN;score=.952 && partner=ENSP00000243644;symbol=ZNF350;score=.88 && partner=ENSP00000342087;symbol=FHIT;score=.787 && partner=ENSP00000355759;symbol=PARP1;score=.964 && partner=ENSP00000262887;symbol=XRCC1;score=.7 && partner=ENSP00000367910;symbol=FANCG;score=.999 && partner=ENSP00000261584;symbol=PALB2;score=.997 && partner=ENSP00000351284;symbol=RAD52;score=.905 && partner=ENSP00000227507;symbol=CCND1;score=.801 && partner=ENSP00000287598;symbol=BUB1B;score=.888 && partner=ENSP00000368100;symbol=RAD50;score=.856 && partner=ENSP00000310520;symbol=ERCC4;score=.708 && partner=ENSP00000269571;symbol=ERBB2;score=.953 && partner=ENSP00000248566;symbol=SHFM1;score=.996 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000328269;symbol=HMG20B;score=.991 && partner=ENSP00000302530;symbol=BUB1;score=.766 && partner=ENSP00000299764;symbol=WDR16;score=.879 && partner=ENSP00000356191;symbol=OPTC;score=.702 && partner=ENSP00000267430;symbol=FANCM;score=.851 && partner=ENSP00000334130;symbol=C11orf30;score=.988 && partner=ENSP00000342307;symbol=FOXM1;score=.908 && partner=ENSP00000341208;symbol=STAT5A;score=.937 && partner=ENSP00000233146;symbol=MSH2;score=.817 && partner=ENSP00000260947;symbol=BARD1;score=.994 && partner=ENSP00000264639;symbol=PSMD3;score=.884 && partner=ENSP00000263754;symbol=KAT2B;score=.985 && partner=ENSP00000330875;symbol=FANCF;score=.955 && partner=ENSP00000343412;symbol=BRE;score=.827 && partner=ENSP00000269305;symbol=TP53;score=.997 && partner=ENSP00000325120;symbol=PGR;score=.823 && partner=ENSP00000310449;symbol=;score=.778 && partner=ENSP00000344103;symbol=BRCC3;score=.834 && partner=ENSP00000234420;symbol=MSH6;score=.793 && partner=ENSP00000300027;symbol=FANCI;score=.742 && partner=ENSP00000259008;symbol=BRIP1;score=.955 && partner=ENSP00000373468;symbol=;score=.868 && partner=ENSP00000300093;symbol=PLK1;score=.98 && partner=ENSP00000360025;symbol=GADD45A;score=.74 && partner=ENSP00000364454;symbol=FANCC;score=.962 && partner=ENSP00000185885;symbol=UBE2D1;score=.839 && partner=ENSP00000371446;symbol=;score=.875 && partner=ENSP00000341551;symbol=SMAD4;score=.784 && partner=ENSP00000206249;symbol=ESR1;score=.816 && partner=ENSP00000352271;symbol=XRCC2;score=.748 && partner=ENSP00000233741;symbol=FANCL;score=.939 && partner=ENSP00000343392;symbol=XRCC3;score=.748 && partner=ENSP00000374163;symbol=;score=.972 && partner=ENSP00000357748;symbol=BCCIP;score=.987 && partner=ENSP00000278916;symbol=CHEK1;score=.792 && partner=ENSP00000358879;symbol=FLNA;score=.937 && partner=ENSP00000370021;symbol=CNTLN;score=.888 && partner=ENSP00000332973;symbol=SMAD3;score=.921 && partner=ENSP00000336701;symbol=RAD51C;score=.702 && partner=ENSP00000372088;symbol=RAD51;score=.999 && partner=ENSP00000324404;symbol=TCHP;score=.746 && partner=ENSP00000342011;symbol=XRCC4;score=.784 && partner=ENSP00000363015;symbol=RPA2;score=.875 && partner=ENSP00000287647;symbol=FANCD2;score=.999 && partner=ENSP00000347232;symbol=BLM;score=.718 && partner=ENSP00000361063;symbol=;score=.742 && partner=ENSP00000373952;symbol=FANCA;score=.967 && partner=ENSP00000372023;symbol=CHEK2;score=.977 && partner=ENSP00000325863;symbol=MRE11A;score=.925 && partner=ENSP00000267163;symbol=RB1;score=.935 && partner=ENSP00000324856;symbol=STK11;score=.834 && partner=ENSP00000229769;symbol=FANCE;score=.975 && partner=ENSP00000329528;symbol=XRCC5;score=.749 GeneCard: CASP3   caspase 3, apoptosis-related cysteine peptidase (GC04M185785; Chromosome 4:185,785,844-185,807,623) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Selective cleavage of BLM, the bloom syndrome protein, during apoptotic cell death. . . . GeneCard: CASP6   caspase 6, apoptosis-related cysteine peptidase (GC04M110829; Chromosome 4:110,829,234-110,844,078) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Selective cleavage of BLM, the bloom syndrome protein, during apoptotic cell death. . . . GeneCard: CHEK1   CHK1 checkpoint homolog (S. pombe) (GC11P125001; Chromosome 11:125,001,547-125,030,847) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest. . . . GeneCard: CLSPN   claspin homolog (Xenopus laevis) (GC01M035958; Chromosome 1:35,958,406-36,008,155) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Absence of BLM leads to accumulation of chromosomal DNA breaks during both unperturbed and disrupted S phases. . . . GeneCard: CSDA   cold shock domain protein A (GC12M010742; Chromosome 12:10,742,955-10,767,178) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: RPA alleviates the inhibitory effect of vinylphosphonate internucleotide linkages on DNA unwinding by BLM and WRN helicases. . . . GeneCard: DMC1   DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (GC22M037239; Chromosome 22:37,244,900-37,296,135) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Expression and nuclear localization of BLM, a chromosome stability protein mutated in Bloom's syndrome, suggest a role in recombination during meiotic prophase. . . . GeneCard: DNA2   DNA replication helicase 2 homolog (yeast) (GC10M069844; Chromosome 10:69,843,827-69,901,885) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000351185 | interactions: partner=ENSP00000265465;symbol=POLA2;score=.906 && partner=ENSP00000263681;symbol=POLD3;score=.942 && partner=ENSP00000363958;symbol=BRD2;score=.712 && partner=ENSP00000350491;symbol=PRIM1;score=.956 && partner=ENSP00000353166;symbol=;score=.757 && partner=ENSP00000374139;symbol=PRIM2;score=.899 && partner=ENSP00000368438;symbol=PCNA;score=.971 && partner=ENSP00000305480;symbol=FEN1;score=.997 && partner=ENSP00000268043;symbol=PIF1;score=.83 && partner=ENSP00000298139;symbol=WRN;score=.871 && partner=ENSP00000363015;symbol=RPA2;score=.956 && partner=ENSP00000317636;symbol=RECQL5;score=.834 && partner=ENSP00000223129;symbol=RPA3;score=.956 && partner=ENSP00000223361;symbol=POLD2;score=.972 && partner=ENSP00000347232;symbol=BLM;score=.74 && partner=ENSP00000352257;symbol=XRCC6;score=.725 && partner=ENSP00000301323;symbol=RECQL4;score=.795 && partner=ENSP00000325863;symbol=MRE11A;score=.727 && partner=ENSP00000318727;symbol=RECQL;score=.805 && partner=ENSP00000371446;symbol=;score=.976 && partner=ENSP00000262266;symbol=POLD1;score=.978 && partner=ENSP00000311368;symbol=POLD4;score=.899 && partner=ENSP00000263274;symbol=LIG1;score=.878 && partner=ENSP00000368358;symbol=POLA1;score=.906 && partner=ENSP00000368100;symbol=RAD50;score=.728 GeneCard: DNAH8   dynein, axonemal, heavy chain 8 (GC06P038791; Chromosome 6:38,792,313-39,106,545) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. . . . GeneCard: ENOSF1   enolase superfamily member 1 (GC18M000664; Chromosome 18:663,914-702,642) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000313346 | interactions: partner=ENSP00000347232;symbol=BLM;score=.79 && partner=ENSP00000257020;symbol=RBMX2;score=.839 && partner=ENSP00000371502;symbol=CREBBP;score=.908 && partner=ENSP00000301323;symbol=RECQL4;score=.961 && partner=ENSP00000315644;symbol=TYMS;score=.816 && partner=ENSP00000318727;symbol=RECQL;score=.83 && partner=ENSP00000236996;symbol=CREB1;score=.715 && partner=ENSP00000362041;symbol=DNAJC9;score=.801 && partner=ENSP00000320940;symbol=NCOA1;score=.847 && partner=ENSP00000357792;symbol=REV3L;score=.738 && partner=ENSP00000356142;symbol=TIAM2;score=.712 && partner=ENSP00000370731;symbol=INS;score=.854 && partner=ENSP00000298139;symbol=WRN;score=.822 && partner=ENSP00000317636;symbol=RECQL5;score=.858 GeneCard: ERCC1   excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (GC19M050602; Chromosome 19:50,604,712-50,619,017) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000013807 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.732 && partner=ENSP00000370625;symbol=POLR2B;score=.908 && partner=ENSP00000265963;symbol=GTF2H1;score=.967 && partner=ENSP00000364270;symbol=XPA;score=.999 && partner=ENSP00000324124;symbol=POLR2L;score=.908 && partner=ENSP00000285021;symbol=XPC;score=.996 && partner=ENSP00000262887;symbol=XRCC1;score=.917 && partner=ENSP00000342889;symbol=POLR2K;score=.912 && partner=ENSP00000367787;symbol=LIG3;score=.812 && partner=ENSP00000347978;symbol=ERCC5;score=.996 && partner=ENSP00000215587;symbol=POLR2E;score=.899 && partner=ENSP00000351284;symbol=RAD52;score=.711 && partner=ENSP00000359211;symbol=DPYD;score=.744 && partner=ENSP00000265038;symbol=ERCC8;score=.899 && partner=ENSP00000374300;symbol=;score=.988 && partner=ENSP00000352239;symbol=MUTYH;score=.711 && partner=ENSP00000348089;symbol=ERCC6;score=.996 && partner=ENSP00000310520;symbol=ERCC4;score=.999 && partner=ENSP00000368849;symbol=;score=.892 && partner=ENSP00000350283;symbol=BRCA1;score=.742 && partner=ENSP00000369447;symbol=;score=.974 && partner=ENSP00000219252;symbol=POLR2C;score=.908 && partner=ENSP00000368438;symbol=PCNA;score=.806 && partner=ENSP00000275493;symbol=EGFR;score=.738 && partner=ENSP00000272645;symbol=POLR2D;score=.899 && partner=ENSP00000273261;symbol=LRIG1;score=.74 && partner=ENSP00000306561;symbol=OGG1;score=.774 && partner=ENSP00000373268;symbol=;score=.899 && partner=ENSP00000233146;symbol=MSH2;score=.904 && partner=ENSP00000348232;symbol=;score=.927 && partner=ENSP00000310966;symbol=CD3EAP;score=.872 && partner=ENSP00000315849;symbol=POLR2J;score=.908 && partner=ENSP00000228955;symbol=GTF2H3;score=.927 && partner=ENSP00000216714;symbol=APEX1;score=.811 && partner=ENSP00000269305;symbol=TP53;score=.812 && partner=ENSP00000373037;symbol=;score=.927 && partner=ENSP00000221476;symbol=CKM;score=.826 && partner=ENSP00000350708;symbol=RAD23B;score=.993 && partner=ENSP00000305480;symbol=FEN1;score=.823 && partner=ENSP00000220913;symbol=CHRAC1;score=.899 && partner=ENSP00000256443;symbol=CDK7;score=.97 && partner=ENSP00000302111;symbol=MGMT;score=.746 && partner=ENSP00000360025;symbol=GADD45A;score=.769 && partner=ENSP00000223129;symbol=RPA3;score=.933 && partner=ENSP00000215960;symbol=POLR2F;score=.908 && partner=ENSP00000371446;symbol=;score=.933 && partner=ENSP00000300738;symbol=RRM1;score=.75 && partner=ENSP00000265421;symbol=POLB;score=.768 && partner=ENSP00000365275;symbol=;score=.996 && partner=ENSP00000253727;symbol=NR1H2;score=.968 && partner=ENSP00000261245;symbol=MNAT1;score=.899 && partner=ENSP00000352271;symbol=XRCC2;score=.748 && partner=ENSP00000343392;symbol=XRCC3;score=.75 && partner=ENSP00000252029;symbol=TYMP;score=.73 && partner=ENSP00000221859;symbol=POLR2I;score=.908 && partner=ENSP00000307853;symbol=MUS81;score=.763 && partner=ENSP00000321365;symbol=RAD23A;score=.836 && partner=ENSP00000196968;symbol=GSTP1;score=.744 && partner=ENSP00000296223;symbol=POLR2H;score=.908 && partner=ENSP00000372088;symbol=RAD51;score=.736 && partner=ENSP00000314949;symbol=POLR2A;score=.908 && partner=ENSP00000342011;symbol=XRCC4;score=.708 && partner=ENSP00000363015;symbol=RPA2;score=.94 && partner=ENSP00000347232;symbol=BLM;score=.765 && partner=ENSP00000256996;symbol=DDB2;score=.923 && partner=ENSP00000351137;symbol=XAB2;score=.899 && partner=ENSP00000315644;symbol=TYMS;score=.748 && partner=ENSP00000221481;symbol=ERCC2;score=.996 && partner=ENSP00000301788;symbol=POLR2G;score=.908 && partner=ENSP00000329528;symbol=XRCC5;score=.73 GeneCard: ERCC2   excision repair cross-complementing rodent repair deficiency, complementation group 2 (GC19M050546; Chromosome 19:50,546,086-50,565,675) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000221481 | interactions: partner=ENSP00000263857;symbol=POLR1A;score=.912 && partner=ENSP00000364270;symbol=XPA;score=.996 && partner=ENSP00000352925;symbol=TRRAP;score=.851 && partner=ENSP00000248935;symbol=GSTT1;score=.75 && partner=ENSP00000311747;symbol=RBM4;score=.899 && partner=ENSP00000299543;symbol=CTDP1;score=.919 && partner=ENSP00000324124;symbol=POLR2L;score=.956 && partner=ENSP00000298139;symbol=WRN;score=.788 && partner=ENSP00000355759;symbol=PARP1;score=.707 && partner=ENSP00000285021;symbol=XPC;score=.996 && partner=ENSP00000262809;symbol=ELL;score=.899 && partner=ENSP00000349801;symbol=;score=.899 && partner=ENSP00000318641;symbol=INTS3;score=.899 && partner=ENSP00000351284;symbol=RAD52;score=.875 && partner=ENSP00000368571;symbol=;score=.785 && partner=ENSP00000230354;symbol=TBP;score=.943 && partner=ENSP00000374300;symbol=;score=.982 && partner=ENSP00000310520;symbol=ERCC4;score=.996 && partner=ENSP00000300651;symbol=MED1;score=.903 && partner=ENSP00000282892;symbol=MED21;score=.906 && partner=ENSP00000248566;symbol=SHFM1;score=.899 && partner=ENSP00000350283;symbol=BRCA1;score=.724 && partner=ENSP00000369447;symbol=;score=.998 && partner=ENSP00000358994;symbol=MYO6;score=.899 && partner=ENSP00000299424;symbol=TAF10;score=.899 && partner=ENSP00000251871;symbol=MED17;score=.899 && partner=ENSP00000254299;symbol=GCH1;score=.899 && partner=ENSP00000219252;symbol=POLR2C;score=.956 && partner=ENSP00000336871;symbol=KLC3;score=.744 && partner=ENSP00000273261;symbol=LRIG1;score=.728 && partner=ENSP00000306561;symbol=OGG1;score=.825 && partner=ENSP00000359818;symbol=MMS19;score=.991 && partner=ENSP00000320176;symbol=HCLS1;score=.899 && partner=ENSP00000293777;symbol=MED11;score=.899 && partner=ENSP00000228955;symbol=GTF2H3;score=.988 && partner=ENSP00000263274;symbol=LIG1;score=.781 && partner=ENSP00000374031;symbol=;score=.906 && partner=ENSP00000258648;symbol=MED4;score=.899 && partner=ENSP00000280362;symbol=PTS;score=.899 && partner=ENSP00000216714;symbol=APEX1;score=.773 && partner=ENSP00000269305;symbol=TP53;score=.953 && partner=ENSP00000358497;symbol=RNGTT;score=.899 && partner=ENSP00000346634;symbol=THRAP3;score=.899 && partner=ENSP00000263331;symbol=POLR1B;score=.912 && partner=ENSP00000310260;symbol=INTS6;score=.899 && partner=ENSP00000305480;symbol=FEN1;score=.873 && partner=ENSP00000365764;symbol=;score=.763 && partner=ENSP00000278412;symbol=SSRP1;score=.904 && partner=ENSP00000261900;symbol=CCNT1;score=.909 && partner=ENSP00000303830;symbol=INSR;score=.815 && partner=ENSP00000215960;symbol=POLR2F;score=.956 && partner=ENSP00000371446;symbol=;score=.93 && partner=ENSP00000300321;symbol=INTS10;score=.899 && partner=ENSP00000370193;symbol=TAF9;score=.899 && partner=ENSP00000373630;symbol=;score=.907 && partner=ENSP00000265421;symbol=POLB;score=.812 && partner=ENSP00000356067;symbol=GTF2H5;score=.992 && partner=ENSP00000352271;symbol=XRCC2;score=.742 && partner=ENSP00000327072;symbol=TAF1A;score=.908 && partner=ENSP00000264382;symbol=SI;score=.899 && partner=ENSP00000365767;symbol=MTHFR;score=.742 && partner=ENSP00000297347;symbol=MED30;score=.899 && partner=ENSP00000295463;symbol=ALPI;score=.899 && partner=ENSP00000252996;symbol=TAF4;score=.903 && partner=ENSP00000355802;symbol=EPHX1;score=.728 && partner=ENSP00000265614;symbol=INTS9;score=.899 && partner=ENSP00000296223;symbol=POLR2H;score=.956 && partner=ENSP00000363662;symbol=TCEB3;score=.899 && partner=ENSP00000314949;symbol=POLR2A;score=.956 && partner=ENSP00000363015;symbol=RPA2;score=.948 && partner=ENSP00000358854;symbol=TAF5;score=.904 && partner=ENSP00000290663;symbol=MED8;score=.899 && partner=ENSP00000362362;symbol=CDK9;score=.926 && partner=ENSP00000347232;symbol=BLM;score=.893 && partner=ENSP00000312649;symbol=PPARGC1B;score=.899 && partner=ENSP00000256996;symbol=DDB2;score=.933 && partner=ENSP00000264157;symbol=CCNT2;score=.899 && partner=ENSP00000354633;symbol=TAF11;score=.899 && partner=ENSP00000340019;symbol=HSPD1P4;score=.909 && partner=ENSP00000312709;symbol=TAF7;score=.899 && partner=ENSP00000301788;symbol=POLR2G;score=.956 && partner=ENSP00000256379;symbol=MED6;score=.904 && partner=ENSP00000348168;symbol=GTF2E2;score=.899 && partner=ENSP00000231790;symbol=MLH1;score=.726 && partner=ENSP00000349317;symbol=;score=.913 && partner=ENSP00000370625;symbol=POLR2B;score=.956 && partner=ENSP00000265963;symbol=GTF2H1;score=.998 && partner=ENSP00000333920;symbol=TTF1;score=.899 && partner=ENSP00000358838;symbol=GSTM1;score=.748 && partner=ENSP00000339495;symbol=COBRA1;score=.899 && partner=ENSP00000362948;symbol=MED18;score=.899 && partner=ENSP00000225507;symbol=;score=.899 && partner=ENSP00000302640;symbol=UBTF;score=.902 && partner=ENSP00000327889;symbol=INTS5;score=.899 && partner=ENSP00000346913;symbol=INTS4;score=.899 && partner=ENSP00000013807;symbol=ERCC1;score=.996 && partner=ENSP00000262887;symbol=XRCC1;score=.909 && partner=ENSP00000363965;symbol=ALPL;score=.899 && partner=ENSP00000342889;symbol=POLR2K;score=.956 && partner=ENSP00000359531;symbol=GTF2B;score=.943 && partner=ENSP00000245811;symbol=TRMT2B;score=.912 && partner=ENSP00000325612;symbol=MED16;score=.899 && partner=ENSP00000367787;symbol=LIG3;score=.825 && partner=ENSP00000263663;symbol=TAF1B;score=.906 && partner=ENSP00000215587;symbol=POLR2E;score=.917 && partner=ENSP00000347978;symbol=ERCC5;score=.998 && partner=ENSP00000284811;symbol=TCEB1;score=.899 && partner=ENSP00000343274;symbol=INTS8;score=.899 && partner=ENSP00000265038;symbol=ERCC8;score=.964 && partner=ENSP00000340737;symbol=INTS12;score=.899 && partner=ENSP00000348089;symbol=ERCC6;score=.997 && partner=ENSP00000263974;symbol=TAF12;score=.899 && partner=ENSP00000265564;symbol=EXOSC7;score=.937 && partner=ENSP00000322016;symbol=PUF60;score=.899 && partner=ENSP00000344537;symbol=TAF6;score=.899 && partner=ENSP00000356322;symbol=ZNF281;score=.899 && partner=ENSP00000198767;symbol=RRN3;score=.899 && partner=ENSP00000251334;symbol=INTS2;score=.899 && partner=ENSP00000368438;symbol=PCNA;score=.766 && partner=ENSP00000370938;symbol=CDK8;score=.946 && partner=ENSP00000362073;symbol=TAF8;score=.92 && partner=ENSP00000266589;symbol=SFRS2IP;score=.899 && partner=ENSP00000298173;symbol=GTF2A1;score=.927 && partner=ENSP00000272645;symbol=POLR2D;score=.899 && partner=ENSP00000364289;symbol=NCBP1;score=.899 && partner=ENSP00000373268;symbol=;score=.899 && partner=ENSP00000233146;symbol=MSH2;score=.895 && partner=ENSP00000348232;symbol=;score=.995 && partner=ENSP00000315849;symbol=POLR2J;score=.956 && partner=ENSP00000256398;symbol=ELP3;score=.899 && partner=ENSP00000333125;symbol=MED12;score=.899 && partner=ENSP00000295453;symbol=ALPPL2;score=.899 && partner=ENSP00000372265;symbol=KDM5A;score=.899 && partner=ENSP00000353863;symbol=ZNF148;score=.899 && partner=ENSP00000323720;symbol=MED14;score=.899 && partner=ENSP00000348610;symbol=MED24;score=.899 && partner=ENSP00000326806;symbol=NCBP2;score=.899 && partner=ENSP00000373037;symbol=;score=.954 && partner=ENSP00000221476;symbol=CKM;score=.751 && partner=ENSP00000310449;symbol=;score=.702 && partner=ENSP00000349541;symbol=PTRF;score=.899 && partner=ENSP00000216297;symbol=SUPT16HP;score=.907 && partner=ENSP00000350708;symbol=RAD23B;score=.988 && partner=ENSP00000342300;symbol=TH1L;score=.899 && partner=ENSP00000363779;symbol=IKBKAP;score=.899 && partner=ENSP00000256443;symbol=CDK7;score=.997 && partner=ENSP00000262306;symbol=TCEB2;score=.899 && partner=ENSP00000302111;symbol=MGMT;score=.748 && partner=ENSP00000355051;symbol=TAF13;score=.899 && partner=ENSP00000351886;symbol=GTF2F2;score=.934 && partner=ENSP00000262436;symbol=MED13;score=.936 && partner=ENSP00000372335;symbol=WHSC2;score=.899 && partner=ENSP00000355962;symbol=;score=.899 && partner=ENSP00000223129;symbol=RPA3;score=.917 && partner=ENSP00000283875;symbol=GTF2E1;score=.906 && partner=ENSP00000369050;symbol=CYP1A1;score=.732 && partner=ENSP00000365275;symbol=;score=.999 && partner=ENSP00000276072;symbol=TAF1;score=.905 && partner=ENSP00000312530;symbol=C19orf2;score=.899 && partner=ENSP00000253727;symbol=NR1H2;score=.979 && partner=ENSP00000361465;symbol=POLR1C;score=.912 && partner=ENSP00000261245;symbol=MNAT1;score=.966 && partner=ENSP00000254636;symbol=IMMT;score=.73 && partner=ENSP00000269142;symbol=TAF4B;score=.899 && partner=ENSP00000343392;symbol=XRCC3;score=.75 && partner=ENSP00000368461;symbol=ELP4;score=.899 && partner=ENSP00000372804;symbol=RNMT;score=.906 && partner=ENSP00000264867;symbol=PPARGC1A;score=.908 && partner=ENSP00000267869;symbol=GTF2A2;score=.927 && partner=ENSP00000224073;symbol=EDF1;score=.899 && partner=ENSP00000221859;symbol=POLR2I;score=.956 && partner=ENSP00000196968;symbol=GSTP1;score=.75 && partner=ENSP00000372660;symbol=ENSG00000206268;score=.899 && partner=ENSP00000372088;symbol=RAD51;score=.922 && partner=ENSP00000263390;symbol=MED26;score=.899 && partner=ENSP00000351137;symbol=XAB2;score=.928 && partner=ENSP00000295450;symbol=;score=.899 && partner=ENSP00000362917;symbol=CDC2;score=.763 && partner=ENSP00000302478;symbol=POLR1D;score=.899 && partner=ENSP00000307321;symbol=HOXC10;score=.899 GeneCard: ERCC4   excision repair cross-complementing rodent repair deficiency, complementation group 4 (GC16P013922; Chromosome 16:13,921,516-13,949,868) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000310520 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.787 && partner=ENSP00000370625;symbol=POLR2B;score=.908 && partner=ENSP00000265963;symbol=GTF2H1;score=.979 && partner=ENSP00000364270;symbol=XPA;score=.996 && partner=ENSP00000324124;symbol=POLR2L;score=.908 && partner=ENSP00000339897;symbol=EME1;score=.716 && partner=ENSP00000285021;symbol=XPC;score=.995 && partner=ENSP00000262887;symbol=XRCC1;score=.88 && partner=ENSP00000013807;symbol=ERCC1;score=.999 && partner=ENSP00000342889;symbol=POLR2K;score=.908 && partner=ENSP00000367787;symbol=LIG3;score=.711 && partner=ENSP00000347978;symbol=ERCC5;score=.996 && partner=ENSP00000215587;symbol=POLR2E;score=.899 && partner=ENSP00000351284;symbol=RAD52;score=.797 && partner=ENSP00000265038;symbol=ERCC8;score=.899 && partner=ENSP00000374300;symbol=;score=.995 && partner=ENSP00000348089;symbol=ERCC6;score=.99 && partner=ENSP00000254942;symbol=TERF2;score=.704 && partner=ENSP00000368849;symbol=;score=.944 && partner=ENSP00000350283;symbol=BRCA1;score=.712 && partner=ENSP00000369447;symbol=;score=.972 && partner=ENSP00000219252;symbol=POLR2C;score=.908 && partner=ENSP00000368438;symbol=PCNA;score=.963 && partner=ENSP00000272645;symbol=POLR2D;score=.899 && partner=ENSP00000306561;symbol=OGG1;score=.762 && partner=ENSP00000373268;symbol=;score=.899 && partner=ENSP00000233146;symbol=MSH2;score=.835 && partner=ENSP00000348232;symbol=;score=.931 && partner=ENSP00000228955;symbol=GTF2H3;score=.931 && partner=ENSP00000315849;symbol=POLR2J;score=.908 && partner=ENSP00000254262;symbol=C19orf40;score=.868 && partner=ENSP00000216714;symbol=APEX1;score=.733 && partner=ENSP00000373037;symbol=;score=.931 && partner=ENSP00000350708;symbol=RAD23B;score=.983 && partner=ENSP00000305480;symbol=FEN1;score=.897 && partner=ENSP00000220913;symbol=CHRAC1;score=.899 && partner=ENSP00000256443;symbol=CDK7;score=.921 && partner=ENSP00000302111;symbol=MGMT;score=.726 && partner=ENSP00000360025;symbol=GADD45A;score=.704 && partner=ENSP00000223129;symbol=RPA3;score=.944 && partner=ENSP00000215960;symbol=POLR2F;score=.908 && partner=ENSP00000371446;symbol=;score=.973 && partner=ENSP00000365275;symbol=;score=.995 && partner=ENSP00000253727;symbol=NR1H2;score=.961 && partner=ENSP00000261245;symbol=MNAT1;score=.899 && partner=ENSP00000352271;symbol=XRCC2;score=.748 && partner=ENSP00000343392;symbol=XRCC3;score=.84 && partner=ENSP00000361806;symbol=SPTAN1;score=.839 && partner=ENSP00000307853;symbol=MUS81;score=.925 && partner=ENSP00000221859;symbol=POLR2I;score=.908 && partner=ENSP00000296223;symbol=POLR2H;score=.908 && partner=ENSP00000369497;symbol=BRCA2;score=.708 && partner=ENSP00000372088;symbol=RAD51;score=.701 && partner=ENSP00000314949;symbol=POLR2A;score=.908 && partner=ENSP00000363015;symbol=RPA2;score=.944 && partner=ENSP00000287647;symbol=FANCD2;score=.809 && partner=ENSP00000347232;symbol=BLM;score=.733 && partner=ENSP00000256996;symbol=DDB2;score=.988 && partner=ENSP00000373952;symbol=FANCA;score=.846 && partner=ENSP00000351137;symbol=XAB2;score=.899 && partner=ENSP00000325863;symbol=MRE11A;score=.705 && partner=ENSP00000221481;symbol=ERCC2;score=.996 && partner=ENSP00000301788;symbol=POLR2G;score=.908 && partner=ENSP00000329528;symbol=XRCC5;score=.728 GeneCard: ERCC6L   excision repair cross-complementing rodent repair deficiency, complementation group 6-like (GC0XM071342; Chromosome X:71,341,232-71,375,602) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: BLM is required for faithful chromosome segregation and its localization defines a class of ultrafine anaphase bridges. . . . GeneCard: EXO1   exonuclease 1 (GC01P240078; Chromosome 1:240,078,158-240,119,671) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair. . . . GeneCard: FANCA   Fanconi anemia, complementation group A (GC16M088332; Chromosome 16:88,331,460-88,410,566) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000373952 | interactions: partner=ENSP00000339151;symbol=IKBKB;score=.755 && partner=ENSP00000300027;symbol=FANCI;score=.874 && partner=ENSP00000259008;symbol=BRIP1;score=.822 && partner=ENSP00000365290;symbol=TNF;score=.886 && partner=ENSP00000359153;symbol=COL12A1;score=.899 && partner=ENSP00000350720;symbol=SMARCA4;score=.925 && partner=ENSP00000326819;symbol=FANCB;score=.905 && partner=ENSP00000372583;symbol=;score=.899 && partner=ENSP00000367910;symbol=FANCG;score=.999 && partner=ENSP00000364454;symbol=FANCC;score=.999 && partner=ENSP00000359424;symbol=CHUK;score=.823 && partner=ENSP00000261584;symbol=PALB2;score=.733 && partner=ENSP00000289816;symbol=ZNF276;score=.866 && partner=ENSP00000357244;symbol=CCT3;score=.789 && partner=ENSP00000270202;symbol=AKT1;score=.961 && partner=ENSP00000233741;symbol=FANCL;score=.999 && partner=ENSP00000368100;symbol=RAD50;score=.774 && partner=ENSP00000310520;symbol=ERCC4;score=.846 && partner=ENSP00000374163;symbol=;score=.818 && partner=ENSP00000361806;symbol=SPTAN1;score=.967 && partner=ENSP00000350283;symbol=BRCA1;score=.999 && partner=ENSP00000353166;symbol=;score=.942 && partner=ENSP00000369497;symbol=BRCA2;score=.967 && partner=ENSP00000267430;symbol=FANCM;score=.978 && partner=ENSP00000287647;symbol=FANCD2;score=.997 && partner=ENSP00000347232;symbol=BLM;score=.835 && partner=ENSP00000261755;symbol=FAH;score=.75 && partner=ENSP00000333283;symbol=C17orf70;score=.946 && partner=ENSP00000260947;symbol=BARD1;score=.921 && partner=ENSP00000366998;symbol=SNX5;score=.946 && partner=ENSP00000368453;symbol=EIF2AK2;score=.963 && partner=ENSP00000330875;symbol=FANCF;score=.999 && partner=ENSP00000229769;symbol=FANCE;score=.999 GeneCard: FANCE   Fanconi anemia, complementation group E (GC06P035528; Chromosome 6:35,528,116-35,542,859) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000229769 | interactions: partner=ENSP00000278916;symbol=CHEK1;score=.931 && partner=ENSP00000353166;symbol=;score=.857 && partner=ENSP00000350283;symbol=BRCA1;score=.992 && partner=ENSP00000371872;symbol=AMAC1L1;score=.714 && partner=ENSP00000369497;symbol=BRCA2;score=.975 && partner=ENSP00000259008;symbol=BRIP1;score=.822 && partner=ENSP00000359153;symbol=COL12A1;score=.899 && partner=ENSP00000267430;symbol=FANCM;score=.899 && partner=ENSP00000287647;symbol=FANCD2;score=.999 && partner=ENSP00000347232;symbol=BLM;score=.719 && partner=ENSP00000373952;symbol=FANCA;score=.999 && partner=ENSP00000372583;symbol=;score=.899 && partner=ENSP00000261584;symbol=PALB2;score=.877 && partner=ENSP00000364454;symbol=FANCC;score=.999 && partner=ENSP00000367910;symbol=FANCG;score=.999 && partner=ENSP00000260947;symbol=BARD1;score=.948 && partner=ENSP00000368453;symbol=EIF2AK2;score=.709 && partner=ENSP00000233741;symbol=FANCL;score=.988 && partner=ENSP00000330875;symbol=FANCF;score=.999 && partner=ENSP00000299367;symbol=ENSG00000166278;score=.75 GeneCard: FANCG   Fanconi anemia, complementation group G (GC09M035063; Chromosome 9:35,063,835-35,070,013) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000367910 | interactions: partner=ENSP00000374163;symbol=;score=.709 && partner=ENSP00000361806;symbol=SPTAN1;score=.78 && partner=ENSP00000353166;symbol=;score=.857 && partner=ENSP00000350283;symbol=BRCA1;score=.996 && partner=ENSP00000331987;symbol=;score=.767 && partner=ENSP00000369497;symbol=BRCA2;score=.999 && partner=ENSP00000300027;symbol=FANCI;score=.914 && partner=ENSP00000372088;symbol=RAD51;score=.773 && partner=ENSP00000294423;symbol=;score=.925 && partner=ENSP00000259008;symbol=BRIP1;score=.846 && partner=ENSP00000359153;symbol=COL12A1;score=.899 && partner=ENSP00000267430;symbol=FANCM;score=.899 && partner=ENSP00000287647;symbol=FANCD2;score=.999 && partner=ENSP00000347232;symbol=BLM;score=.735 && partner=ENSP00000326819;symbol=FANCB;score=.86 && partner=ENSP00000373952;symbol=FANCA;score=.999 && partner=ENSP00000372583;symbol=;score=.899 && partner=ENSP00000364454;symbol=FANCC;score=.999 && partner=ENSP00000252945;symbol=CYP2E1;score=.919 && partner=ENSP00000261584;symbol=PALB2;score=.893 && partner=ENSP00000356066;symbol=IL10;score=.899 && partner=ENSP00000260947;symbol=BARD1;score=.951 && partner=ENSP00000366998;symbol=SNX5;score=.741 && partner=ENSP00000351908;symbol=MAP3K5;score=.899 && partner=ENSP00000368453;symbol=EIF2AK2;score=.971 && partner=ENSP00000233741;symbol=FANCL;score=.998 && partner=ENSP00000229769;symbol=FANCE;score=.999 && partner=ENSP00000330875;symbol=FANCF;score=.999 && partner=ENSP00000368100;symbol=RAD50;score=.812 && partner=ENSP00000343392;symbol=XRCC3;score=.978 GeneCard: HELLS   helicase, lymphoid-specific (GC10P096295; Chromosome 10:96,295,564-96,363,652) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Phosphorylation-dependent interactions of BLM and 53BP1 are required for their anti-recombinogenic roles during homologous recombination. . . . GeneCard: JMJD5   jumonji domain containing 5 (GC16P027123; Chromosome 16:27,122,317-27,140,544) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Tumor suppressor gene identification using retroviral insertional mutagenesis in Blm-deficient mice. . . . GeneCard: LIG1   ligase I, DNA, ATP-dependent (GC19M053310; Chromosome 19:53,310,515-53,365,395) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000263274 | interactions: partner=ENSP00000265465;symbol=POLA2;score=.737 && partner=ENSP00000351185;symbol=DNA2;score=.878 && partner=ENSP00000263681;symbol=POLD3;score=.959 && partner=ENSP00000216714;symbol=APEX1;score=.969 && partner=ENSP00000350491;symbol=PRIM1;score=.786 && partner=ENSP00000371400;symbol=CSNK2A1P;score=.775 && partner=ENSP00000371321;symbol=RFC1;score=.851 && partner=ENSP00000373625;symbol=;score=.704 && partner=ENSP00000368438;symbol=PCNA;score=.999 && partner=ENSP00000305480;symbol=FEN1;score=.93 && partner=ENSP00000342011;symbol=XRCC4;score=.894 && partner=ENSP00000266970;symbol=CDK2;score=.756 && partner=ENSP00000365764;symbol=;score=.796 && partner=ENSP00000273261;symbol=LRIG1;score=.736 && partner=ENSP00000262887;symbol=XRCC1;score=.834 && partner=ENSP00000223361;symbol=POLD2;score=.96 && partner=ENSP00000347232;symbol=BLM;score=.804 && partner=ENSP00000369411;symbol=RFC3;score=.714 && partner=ENSP00000221481;symbol=ERCC2;score=.781 && partner=ENSP00000262266;symbol=POLD1;score=.978 && partner=ENSP00000311368;symbol=POLD4;score=.899 && partner=ENSP00000265421;symbol=POLB;score=.97 && partner=ENSP00000253727;symbol=NR1H2;score=.791 && partner=ENSP00000368358;symbol=POLA1;score=.737 GeneCard: LIG4   ligase IV, DNA, ATP-dependent (GC13M107657; Chromosome 13:107,657,791-107,668,717) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Genetic interactions between BLM and DNA ligase IV in human cells. . . . GeneCard: PALB2   partner and localizer of BRCA2 (GC16M023522; Chromosome 16:23,521,984-23,560,179) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000261584 | interactions: partner=ENSP00000347232;symbol=BLM;score=.737 && partner=ENSP00000374163;symbol=;score=.809 && partner=ENSP00000373952;symbol=FANCA;score=.733 && partner=ENSP00000372023;symbol=CHEK2;score=.867 && partner=ENSP00000367910;symbol=FANCG;score=.893 && partner=ENSP00000364454;symbol=FANCC;score=.866 && partner=ENSP00000350283;symbol=BRCA1;score=.948 && partner=ENSP00000369497;symbol=BRCA2;score=.997 && partner=ENSP00000300027;symbol=FANCI;score=.896 && partner=ENSP00000259008;symbol=BRIP1;score=.961 && partner=ENSP00000229769;symbol=FANCE;score=.877 && partner=ENSP00000233741;symbol=FANCL;score=.836 && partner=ENSP00000267430;symbol=FANCM;score=.894 && partner=ENSP00000287647;symbol=FANCD2;score=.958 && partner=ENSP00000330875;symbol=FANCF;score=.86 && partner=ENSP00000373468;symbol=;score=.718 GeneCard: PCNA   proliferating cell nuclear antigen (GC20M005043; Chromosome 20:5,043,599-5,055,268) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000368438 | interactions: partner=ENSP00000352137;symbol=DNTTIP2;score=.742 && partner=ENSP00000311360;symbol=RAD9A;score=.973 && partner=ENSP00000364126;symbol=APEX2;score=.972 && partner=ENSP00000248572;symbol=GNGT1;score=.899 && partner=ENSP00000306245;symbol=FOS;score=.814 && partner=ENSP00000300035;symbol=KIAA0101;score=.854 && partner=ENSP00000364270;symbol=XPA;score=.802 && partner=ENSP00000361021;symbol=PTEN;score=.888 && partner=ENSP00000335074;symbol=GHRL;score=.8 && partner=ENSP00000355925;symbol=PROX1;score=.848 && partner=ENSP00000333873;symbol=CIB1;score=.757 && partner=ENSP00000356473;symbol=SHPRH;score=.798 && partner=ENSP00000298139;symbol=WRN;score=.988 && partner=ENSP00000364519;symbol=TFDP1;score=.934 && partner=ENSP00000363286;symbol=POLE3;score=.837 && partner=ENSP00000355759;symbol=PARP1;score=.861 && partner=ENSP00000285021;symbol=XPC;score=.714 && partner=ENSP00000278385;symbol=CD44;score=.795 && partner=ENSP00000261254;symbol=CCND2;score=.956 && partner=ENSP00000273074;symbol=;score=.748 && partner=ENSP00000055077;symbol=RFC2;score=.999 && partner=ENSP00000265849;symbol=PMS2;score=.737 && partner=ENSP00000236996;symbol=CREB1;score=.899 && partner=ENSP00000215631;symbol=GADD45B;score=.999 && partner=ENSP00000357753;symbol=IVL;score=.732 && partner=ENSP00000309572;symbol=TERT;score=.762 && partner=ENSP00000258149;symbol=MDM2;score=.85 && partner=ENSP00000354945;symbol=MCM10;score=.958 && partner=ENSP00000351284;symbol=RAD52;score=.712 && partner=ENSP00000367872;symbol=GNB1;score=.899 && partner=ENSP00000364929;symbol=ING1;score=.994 && partner=ENSP00000354222;symbol=;score=.899 && partner=ENSP00000374300;symbol=;score=.816 && partner=ENSP00000310520;symbol=ERCC4;score=.963 && partner=ENSP00000308944;symbol=HLTF;score=.729 && partner=ENSP00000217800;symbol=POLI;score=.835 && partner=ENSP00000370376;symbol=DUT;score=.78 && partner=ENSP00000361099;symbol=;score=.75 && partner=ENSP00000269571;symbol=ERBB2;score=.823 && partner=ENSP00000262238;symbol=YY1;score=.84 && partner=ENSP00000350283;symbol=BRCA1;score=.983 && partner=ENSP00000003607;symbol=POLDIP2;score=.902 && partner=ENSP00000369447;symbol=;score=.987 && partner=ENSP00000228495;symbol=KCTD10;score=.937 && partner=ENSP00000293275;symbol=CCL16;score=.872 && partner=ENSP00000242872;symbol=CENPK;score=.932 && partner=ENSP00000296273;symbol=RFC4;score=.999 && partner=ENSP00000230859;symbol=POLS;score=.971 && partner=ENSP00000353864;symbol=PAK3;score=.726 && partner=ENSP00000299207;symbol=;score=.998 && partner=ENSP00000370620;symbol=ZBED1;score=.948 && partner=ENSP00000264498;symbol=FGF2;score=.952 && partner=ENSP00000260947;symbol=BARD1;score=.974 && partner=ENSP00000363105;symbol=A1CF;score=.746 && partner=ENSP00000263274;symbol=LIG1;score=.999 && partner=ENSP00000361405;symbol=MMP9;score=.71 && partner=ENSP00000254508;symbol=NUP210;score=.842 && partner=ENSP00000236671;symbol=CTSD;score=.799 && partner=ENSP00000373348;symbol=;score=.965 && partner=ENSP00000289824;symbol=;score=.748 && partner=ENSP00000264649;symbol=ATP6V0A1;score=.991 && partner=ENSP00000362768;symbol=RBL1;score=.961 && partner=ENSP00000373936;symbol=;score=.997 && partner=ENSP00000363548;symbol=CXCL12;score=.899 && partner=ENSP00000269305;symbol=TP53;score=.988 && partner=ENSP00000216714;symbol=APEX1;score=.994 && partner=ENSP00000344456;symbol=CTNNB1;score=.779 && partner=ENSP00000346511;symbol=COL2A1;score=.716 && partner=ENSP00000255465;symbol=CCNA1;score=.996 && partner=ENSP00000306340;symbol=CDKL2;score=.7 && partner=ENSP00000361626;symbol=YBX1;score=.75 && partner=ENSP00000305480;symbol=FEN1;score=.999 && partner=ENSP00000242576;symbol=UNG;score=.975 && partner=ENSP00000229854;symbol=MCM3;score=.798 && partner=ENSP00000311202;symbol=KCTD13;score=.984 && partner=ENSP00000365764;symbol=;score=.999 && partner=ENSP00000309766;symbol=HDAC7;score=.924 && partner=ENSP00000322180;symbol=DSCC1;score=.921 && partner=ENSP00000275364;symbol=GNA12;score=.899 && partner=ENSP00000364310;symbol=H2AFX;score=.708 && partner=ENSP00000301280;symbol=CHAF1A;score=.969 && partner=ENSP00000302665;symbol=IGF1;score=.81 && partner=ENSP00000254657;symbol=PER2;score=.854 && partner=ENSP00000357789;symbol=FLG;score=.716 && partner=ENSP00000224237;symbol=VIM;score=.75 && partner=ENSP00000370749;symbol=;score=.716 && partner=ENSP00000265734;symbol=CDK6;score=.995 && partner=ENSP00000229239;symbol=GAPDHL6;score=.854 && partner=ENSP00000371446;symbol=;score=.98 && partner=ENSP00000312652;symbol=LEP;score=.8 && partner=ENSP00000355958;symbol=DTL;score=.955 && partner=ENSP00000265421;symbol=POLB;score=.963 && partner=ENSP00000282572;symbol=CCNO;score=.898 && partner=ENSP00000206249;symbol=ESR1;score=.815 && partner=ENSP00000319027;symbol=CCNC;score=.721 && partner=ENSP00000254108;symbol=FUS;score=.952 && partner=ENSP00000220562;symbol=EXTL3;score=.8 && partner=ENSP00000209728;symbol=CDC6;score=.931 && partner=ENSP00000263233;symbol=SYP;score=.874 && partner=ENSP00000363822;symbol=AR;score=.744 && partner=ENSP00000374163;symbol=;score=.89 && partner=ENSP00000351185;symbol=DNA2;score=.971 && partner=ENSP00000342434;symbol=BAZ1B;score=.973 && partner=ENSP00000263025;symbol=MAPK3;score=.964 && partner=ENSP00000311032;symbol=CASP3;score=.825 && partner=ENSP00000242248;symbol=POLM;score=.769 && partner=ENSP00000250707;symbol=;score=.91 && partner=ENSP00000304965;symbol=PMCHL2;score=.899 && partner=ENSP00000369611;symbol=SPZ1;score=.861 && partner=ENSP00000374139;symbol=PRIM2;score=.903 && partner=ENSP00000313199;symbol=HNRNPD;score=.759 && partner=ENSP00000274813;symbol=MUT;score=.933 && partner=ENSP00000370864;symbol=EPB49;score=.8 && partner=ENSP00000357792;symbol=REV3L;score=.756 && partner=ENSP00000274026;symbol=CCNA2;score=.996 && partner=ENSP00000314522;symbol=;score=.792 && partner=ENSP00000222390;symbol=HGF;score=.748 && partner=ENSP00000363015;symbol=RPA2;score=.946 && partner=ENSP00000253408;symbol=GFAP;score=.822 && partner=ENSP00000347232;symbol=BLM;score=.843 && partner=ENSP00000229043;symbol=RFC5;score=.999 && partner=ENSP00000356438;symbol=PTGS2;score=.744 && partner=ENSP00000346032;symbol=ANXA2;score=.721 && partner=ENSP00000369411;symbol=RFC3;score=.999 && partner=ENSP00000329623;symbol=BCL2;score=.818 && partner=ENSP00000332995;symbol=SETD8;score=.898 && partner=ENSP00000311368;symbol=POLD4;score=.96 && partner=ENSP00000262266;symbol=POLD1;score=.999 && partner=ENSP00000347170;symbol=NEIL1;score=.896 && partner=ENSP00000321656;symbol=CDC25C;score=.96 && partner=ENSP00000295400;symbol=TGFA;score=.748 && partner=ENSP00000293288;symbol=BAX;score=.818 && partner=ENSP00000366799;symbol=CYFIP2;score=.841 && partner=ENSP00000265171;symbol=EGF;score=.965 && partner=ENSP00000344818;symbol=UBC;score=.978 && partner=ENSP00000329528;symbol=XRCC5;score=.971 && partner=ENSP00000369293;symbol=IL2RA;score=.899 && partner=ENSP00000231790;symbol=MLH1;score=.993 && partner=ENSP00000361423;symbol=ABL1;score=.8 && partner=ENSP00000216122;symbol=MCM5;score=.783 && partner=ENSP00000257904;symbol=CDK4;score=.999 && partner=ENSP00000263681;symbol=POLD3;score=.999 && partner=ENSP00000293860;symbol=POLR3K;score=.726 && partner=ENSP00000258743;symbol=IL6;score=.853 && partner=ENSP00000261537;symbol=MIB1;score=.77 && partner=ENSP00000355153;symbol=CDKN2A;score=.905 && partner=ENSP00000351672;symbol=;score=.748 && partner=ENSP00000013807;symbol=ERCC1;score=.806 && partner=ENSP00000262887;symbol=XRCC1;score=.889 && partner=ENSP00000363291;symbol=MAPK8;score=.747 && partner=ENSP00000317272;symbol=MET;score=.744 && partner=ENSP00000357643;symbol=MKI67;score=.78 && partner=ENSP00000221930;symbol=TGFB1;score=.804 && partner=ENSP00000290426;symbol=NPY6R;score=.8 && partner=ENSP00000216367;symbol=POLE2;score=.899 && partner=ENSP00000367787;symbol=LIG3;score=.756 && partner=ENSP00000268794;symbol=CDH1;score=.801 && partner=ENSP00000347978;symbol=ERCC5;score=.995 && partner=ENSP00000362816;symbol=;score=.999 && partner=ENSP00000340671;symbol=DDIT3;score=.704 && partner=ENSP00000227507;symbol=CCND1;score=.999 && partner=ENSP00000270202;symbol=AKT1;score=.732 && partner=ENSP00000368100;symbol=RAD50;score=.89 && partner=ENSP00000353695;symbol=GSTCD;score=.728 && partner=ENSP00000241651;symbol=MYOG;score=.778 && partner=ENSP00000352239;symbol=MUTYH;score=.996 && partner=ENSP00000345571;symbol=E2F1;score=.997 && partner=ENSP00000309622;symbol=TFDP2;score=.854 && partner=ENSP00000297518;symbol=CDK5;score=.908 && partner=ENSP00000219066;symbol=NTHL1;score=.882 && partner=ENSP00000275493;symbol=EGFR;score=.818 && partner=ENSP00000338018;symbol=HIF1A;score=.718 && partner=ENSP00000301019;symbol=CDT1;score=.995 && partner=ENSP00000223361;symbol=POLD2;score=.999 && partner=ENSP00000311873;symbol=EXO1;score=.847 && partner=ENSP00000369647;symbol=AVP;score=.899 && partner=ENSP00000341208;symbol=STAT5A;score=.899 && partner=ENSP00000233146;symbol=MSH2;score=.999 && partner=ENSP00000348056;symbol=UBE2I;score=.888 && partner=ENSP00000365572;symbol=NME2;score=.781 && partner=ENSP00000369867;symbol=CD68;score=.778 && partner=ENSP00000293328;symbol=STAT5B;score=.899 && partner=ENSP00000252506;symbol=GADD45G;score=.999 && partner=ENSP00000313029;symbol=CHTF18;score=.949 && partner=ENSP00000325120;symbol=PGR;score=.746 && partner=ENSP00000228872;symbol=CDKN1B;score=.928 && partner=ENSP00000355124;symbol=KRT19;score=.744 && partner=ENSP00000350491;symbol=PRIM1;score=.976 && partner=ENSP00000310449;symbol=;score=.717 && partner=ENSP00000234420;symbol=MSH6;score=.999 && partner=ENSP00000302961;symbol=HSPA4;score=.952 && partner=ENSP00000373625;symbol=;score=.855 && partner=ENSP00000273320;symbol=ZNF167;score=.8 && partner=ENSP00000256443;symbol=CDK7;score=.779 && partner=ENSP00000266970;symbol=CDK2;score=.999 && partner=ENSP00000360025;symbol=GADD45A;score=.999 && partner=ENSP00000365230;symbol=BCL2L1;score=.738 && partner=ENSP00000223129;symbol=RPA3;score=.953 && partner=ENSP00000348467;symbol=CDKL1;score=.7 && partner=ENSP00000350725;symbol=RAD17;score=.93 && partner=ENSP00000310036;symbol=CD34;score=.815 && partner=ENSP00000302150;symbol=PRL;score=.818 && partner=ENSP00000237623;symbol=SPP1;score=.736 && partner=ENSP00000374828;symbol=ENSG00000211647;score=.899 && partner=ENSP00000357206;symbol=NES;score=.72 && partner=ENSP00000365275;symbol=;score=.717 && partner=ENSP00000296930;symbol=NPM1;score=.889 && partner=ENSP00000253727;symbol=NR1H2;score=.748 && partner=ENSP00000326473;symbol=UBE2V2;score=.984 && partner=ENSP00000263253;symbol=EP300;score=.986 && partner=ENSP00000361310;symbol=POLH;score=.989 && partner=ENSP00000219070;symbol=MMP2;score=.724 && partner=ENSP00000265465;symbol=POLA2;score=.974 && partner=ENSP00000371183;symbol=;score=.714 && partner=ENSP00000316176;symbol=UBE2N;score=.959 && partner=ENSP00000315700;symbol=CHAF1B;score=.783 && partner=ENSP00000278916;symbol=CHEK1;score=.809 && partner=ENSP00000371321;symbol=RFC1;score=.999 && partner=ENSP00000263201;symbol=CDC45L;score=.737 && partner=ENSP00000332973;symbol=SMAD3;score=.92 && partner=ENSP00000307288;symbol=MCM7;score=.753 && partner=ENSP00000360216;symbol=DNTT;score=.987 && partner=ENSP00000371493;symbol=SERPINF2;score=.8 && partner=ENSP00000343925;symbol=ESR2;score=.722 && partner=ENSP00000331327;symbol=WT1;score=.886 && partner=ENSP00000358071;symbol=SEC23IP;score=.98 && partner=ENSP00000357372;symbol=;score=.704 && partner=ENSP00000372088;symbol=RAD51;score=.992 && partner=ENSP00000370233;symbol=;score=.991 && partner=ENSP00000315615;symbol=AKAP5;score=.899 && partner=ENSP00000258428;symbol=REV1;score=.97 && partner=ENSP00000367207;symbol=MYC;score=.966 && partner=ENSP00000355249;symbol=E2F2;score=.892 && partner=ENSP00000352257;symbol=XRCC6;score=.944 && partner=ENSP00000344216;symbol=;score=.741 && partner=ENSP00000231656;symbol=CDX1;score=.858 && partner=ENSP00000262133;symbol=RBL2;score=.767 && partner=ENSP00000267163;symbol=RB1;score=.957 && partner=ENSP00000221481;symbol=ERCC2;score=.766 && partner=ENSP00000301653;symbol=KRT16;score=.716 && partner=ENSP00000362649;symbol=HDAC1;score=.968 && partner=ENSP00000245451;symbol=BMP4;score=.84 && partner=ENSP00000369135;symbol=SLCO6A1;score=.712 && partner=ENSP00000362917;symbol=CDC2;score=.928 && partner=ENSP00000362082;symbol=CCND3;score=.992 && partner=ENSP00000368358;symbol=POLA1;score=.976 && partner=ENSP00000352516;symbol=DNMT1;score=.999 && partner=ENSP00000262643;symbol=CCNE1;score=.98 && partner=ENSP00000337056;symbol=CDKN2D;score=.757 GeneCard: PML   promyelocytic leukemia (GC15P072074; Chromosome 15:72,074,067-72,127,213) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage. . . . GeneCard: PMS2   PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (GC07M005979; Chromosome 7:5,979,396-6,015,263) The following 1 record in the GeneCard text contributes to matching your query: - SWISSPROT: SUBUNIT: Heterodimer of PMS2 and MLH1 (MutL alpha). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domainsSWISSPROT: PMS2 | EC 3.1.-.- |GENE: PMS2| [862 amino acids; 95798 D] | P54278 |FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MulL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages|SUBUNIT: Heterodimer of PMS2 and MLH1 (MutL alpha). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains|INTERACTION: P40692:MLH1; NbExp=1; IntAct=EBI-1162561, EBI-744248; |SUBCELLULAR LOCATION: Nucleus|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P54278-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=P54278-2; Sequence=VSP_029386; Note=No experimental confirmation available; Name=3; IsoId=P54278-3; Sequence=VSP_029387, VSP_029388; Note=No experimental confirmation available; Name=4; IsoId=P54278-4; Sequence=VSP_029384, VSP_029385; Note=No experimental confirmation available; |DISEASE: Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4 (HNPCC4) [MIM:600259]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected|DISEASE: Defects in PMS2 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome and brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots|SIMILARITY: Belongs to the DNA mismatch repair mutL/hexB family|WEB RESOURCE: Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=PMS2"; |PDB: 1EA6; 1H7S; 1H7U; |SECONDARY ACCESSIONS: B2R610 Q52LH6 Q5FBW9 Q5FBX1 Q5FBX2 Q75MR2 |RECOMMENDED_NAME: Mismatch repair endonuclease PMS2 && minedVia: UniProt GeneCard: PNN   pinin, desmosome associated protein (GC14P038714; Chromosome 14:38,714,138-38,722,173) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: memA/DRS, a putative mediator of multiprotein complexes, is overexpressed in the metastasizing human melanoma cell lines BLM and MV3. . . . GeneCard: POLD4   polymerase (DNA-directed), delta 4 (GC11M066875; Chromosome 11:66,875,595-66,877,593) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: The Bloom's syndrome helicase (BLM) interacts physically and functionally with p12, the smallest subunit of human DNA polymerase delta. . . . GeneCard: POT1   POT1 protection of telomeres 1 homolog (S. pombe) (GC07M124250; Chromosome 7:124,249,676-124,357,273) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates. . . . GeneCard: PRKAR1A   protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (GC17P064019; Chromosome 17:64,019,705-64,040,506) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A. . . . GeneCard: QPCT   glutaminyl-peptide cyclotransferase (GC02P037483; Chromosome 2:37,425,241-37,453,969) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000344829 | interactions: partner=ENSP00000357810;symbol=LINGO4;score=.844 && partner=ENSP00000347232;symbol=BLM;score=.7 && partner=ENSP00000334754;symbol=TEAD1;score=.724 && partner=ENSP00000210060;symbol=DHPS;score=.846 && partner=ENSP00000262376;symbol=UBN1;score=.728 && partner=ENSP00000300213;symbol=CCNDBP1;score=.776 GeneCard: RAD17   RAD17 homolog (S. pombe) (GC05P068700; Chromosome 5:68,700,880-68,746,384) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: BLM is an early responder to DNA double-strand breaks. . . . GeneCard: RAD52   RAD52 homolog (S. cerevisiae) (GC12M000891; Chromosome 12:891,516-929,124) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: BLM is an early responder to DNA double-strand breaks. . . . GeneCard: RAD54L   RAD54-like (S. cerevisiae) (GC01P046485; Chromosome 1:46,486,004-46,516,732) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000361043 | interactions: partner=ENSP00000363965;symbol=ALPL;score=.899 && partner=ENSP00000347232;symbol=BLM;score=.734 && partner=ENSP00000269305;symbol=TP53;score=.846 && partner=ENSP00000295450;symbol=;score=.899 && partner=ENSP00000295463;symbol=ALPI;score=.899 && partner=ENSP00000254299;symbol=GCH1;score=.899 && partner=ENSP00000225698;symbol=C1QBP;score=.835 && partner=ENSP00000372088;symbol=RAD51;score=.996 && partner=ENSP00000351284;symbol=RAD52;score=.913 && partner=ENSP00000295453;symbol=ALPPL2;score=.899 && partner=ENSP00000264382;symbol=SI;score=.899 && partner=ENSP00000280362;symbol=PTS;score=.899 GeneCard: RECQL4   RecQ protein-like 4 (GC08M145707; Chromosome 8:145,707,479-145,714,008) The following 1 record in the GeneCard text contributes to matching your query: - GENATLAS: biochem: DNA helicase ATP dependent,with E coli RecQ,expressed in thymus and testis as the BLM gene and up-regulated at the G1/S and G2/M stage of the cell cycle,involved in the maintenance of genomic integrity | disease: GeneCard: RECQL5   RecQ protein-like 5 (GC17M071134; Chromosome 17:71,134,545-71,174,864) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Functional relation among RecQ family helicases RecQL1, RecQL5, and BLM in cell growth and sister chromatid exchange formation. . . . GeneCard: RNASEN   ribonuclease type III, nuclear (GC05M031437; Chromosome 5:31,436,358-31,568,039) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000339845 | interactions: partner=ENSP00000370625;symbol=POLR2B;score=.904 && partner=ENSP00000219252;symbol=POLR2C;score=.904 && partner=ENSP00000221859;symbol=POLR2I;score=.904 && partner=ENSP00000324124;symbol=POLR2L;score=.904 && partner=ENSP00000264951;symbol=XRN1;score=.737 && partner=ENSP00000221486;symbol=RNASEH2A;score=.757 && partner=ENSP00000296223;symbol=POLR2H;score=.904 && partner=ENSP00000367027;symbol=;score=.822 && partner=ENSP00000314949;symbol=POLR2A;score=.911 && partner=ENSP00000366135;symbol=EXOSC10;score=.708 && partner=ENSP00000345456;symbol=PARN;score=.869 && partner=ENSP00000296215;symbol=SNIP1;score=.811 && partner=ENSP00000272645;symbol=POLR2D;score=.899 && partner=ENSP00000263209;symbol=DGCR8;score=.999 && partner=ENSP00000245255;symbol=PIWIL1;score=.736 && partner=ENSP00000337853;symbol=TRAF6;score=.714 && partner=ENSP00000347232;symbol=BLM;score=.735 && partner=ENSP00000342889;symbol=POLR2K;score=.904 && partner=ENSP00000362300;symbol=EIF2C1;score=.756 && partner=ENSP00000215960;symbol=POLR2F;score=.904 && partner=ENSP00000315849;symbol=POLR2J;score=.904 && partner=ENSP00000262288;symbol=SCPEP1;score=.907 && partner=ENSP00000254675;symbol=RAN;score=.899 && partner=ENSP00000215587;symbol=POLR2E;score=.899 && partner=ENSP00000265351;symbol=XPO5;score=.972 && partner=ENSP00000301788;symbol=POLR2G;score=.904 && partner=ENSP00000260356;symbol=THBS1;score=.876 && partner=ENSP00000263754;symbol=KAT2B;score=.744 GeneCard: S100A6   S100 calcium binding protein A6 (GC01M151774; Chromosome 1:151,773,699-151,775,344) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Simultaneous suppression of progression marker genes in the highly malignant human melanoma cell line BLM after transfection with the adenovirus-5 E1A gene. . . . GeneCard: SMC1A   structural maintenance of chromosomes 1A (GC0XM053417; Chromosome X:53,417,795-53,466,361) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000323421 | interactions: partner=ENSP00000300413;symbol=SNRPD1;score=.899 && partner=ENSP00000305556;symbol=PCBP1;score=.899 && partner=ENSP00000229390;symbol=SFRS9;score=.899 && partner=ENSP00000356177;symbol=SNRPE;score=.899 && partner=ENSP00000324124;symbol=POLR2L;score=.9 && partner=ENSP00000304704;symbol=CLP1;score=.899 && partner=ENSP00000363507;symbol=;score=.938 && partner=ENSP00000308699;symbol=REC8;score=.983 && partner=ENSP00000266079;symbol=PRPF6;score=.899 && partner=ENSP00000254193;symbol=SNRPA1;score=.899 && partner=ENSP00000261597;symbol=NDC80;score=.717 && partner=ENSP00000303591;symbol=SNRPB;score=.899 && partner=ENSP00000373402;symbol=HNRNPL;score=.953 && partner=ENSP00000351284;symbol=RAD52;score=.736 && partner=ENSP00000264156;symbol=MCM6;score=.776 && partner=ENSP00000310723;symbol=DDX23;score=.899 && partner=ENSP00000350283;symbol=BRCA1;score=.939 && partner=ENSP00000362110;symbol=SF3A3;score=.899 && partner=ENSP00000219252;symbol=POLR2C;score=.899 && partner=ENSP00000310700;symbol=;score=.92 && partner=ENSP00000275517;symbol=CDCA5;score=.96 && partner=ENSP00000216538;symbol=;score=.899 && partner=ENSP00000349476;symbol=;score=.963 && partner=ENSP00000325376;symbol=HNRNPM;score=.899 && partner=ENSP00000367766;symbol=RPGR;score=.706 && partner=ENSP00000293233;symbol=;score=.899 && partner=ENSP00000363745;symbol=HNRNPR;score=.899 && partner=ENSP00000359645;symbol=RBMX;score=.899 && partner=ENSP00000257934;symbol=ESPL1;score=.983 && partner=ENSP00000269305;symbol=TP53;score=.8 && partner=ENSP00000218089;symbol=STAG2;score=.997 && partner=ENSP00000302894;symbol=;score=.899 && partner=ENSP00000361626;symbol=YBX1;score=.899 && partner=ENSP00000365458;symbol=HNRNPK;score=.899 && partner=ENSP00000362065;symbol=;score=.899 && partner=ENSP00000304350;symbol=PRPF8;score=.899 && partner=ENSP00000361927;symbol=RPL36A;score=.899 && partner=ENSP00000325905;symbol=SFRS7;score=.899 && partner=ENSP00000364310;symbol=H2AFX;score=.955 && partner=ENSP00000215793;symbol=SF3A1;score=.9 && partner=ENSP00000298875;symbol=CPSF2;score=.899 && partner=ENSP00000215960;symbol=POLR2F;score=.899 && partner=ENSP00000266735;symbol=SNRPF;score=.899 && partner=ENSP00000371479;symbol=;score=.773 && partner=ENSP00000254108;symbol=FUS;score=.916 && partner=ENSP00000365482;symbol=;score=.899 && partner=ENSP00000360525;symbol=MAGOH;score=.899 && partner=ENSP00000352438;symbol=PCBP2;score=.899 && partner=ENSP00000327539;symbol=HNRNPH1;score=.899 && partner=ENSP00000374163;symbol=;score=.997 && partner=ENSP00000318861;symbol=SF3B2;score=.899 && partner=ENSP00000283179;symbol=HNRNPU;score=.899 && partner=ENSP00000313199;symbol=HNRNPD;score=.899 && partner=ENSP00000372689;symbol=STAG1;score=.998 && partner=ENSP00000296223;symbol=POLR2H;score=.899 && partner=ENSP00000362820;symbol=SFRS3;score=.899 && partner=ENSP00000314949;symbol=POLR2A;score=.899 && partner=ENSP00000221448;symbol=SNRNP70;score=.899 && partner=ENSP00000287647;symbol=FANCD2;score=.785 && partner=ENSP00000347232;symbol=BLM;score=.782 && partner=ENSP00000360397;symbol=;score=.899 && partner=ENSP00000362900;symbol=SFRS4;score=.899 && partner=ENSP00000259882;symbol=;score=.733 && partner=ENSP00000216277;symbol=PAPOLA;score=.899 && partner=ENSP00000301788;symbol=POLR2G;score=.899 && partner=ENSP00000272348;symbol=SNRPG;score=.899 && partner=ENSP00000370625;symbol=POLR2B;score=.899 && partner=ENSP00000303706;symbol=CDC25A;score=.895 && partner=ENSP00000339353;symbol=CPSF1;score=.899 && partner=ENSP00000350036;symbol=SMC1B;score=.813 && partner=ENSP00000319690;symbol=HNRNPC;score=.899 && partner=ENSP00000233468;symbol=SF3B14;score=.899 && partner=ENSP00000358137;symbol=;score=.899 && partner=ENSP00000298281;symbol=PCF11;score=.899 && partner=ENSP00000263697;symbol=DNAJC8;score=.899 && partner=ENSP00000276201;symbol=UPF3B;score=.899 && partner=ENSP00000221494;symbol=SF3A2;score=.899 && partner=ENSP00000265872;symbol=CCAR1;score=.899 && partner=ENSP00000331817;symbol=THOC4;score=.899 && partner=ENSP00000215829;symbol=SNRPD3;score=.899 && partner=ENSP00000342889;symbol=POLR2K;score=.899 && partner=ENSP00000263367;symbol=HNRNPUL1;score=.952 && partner=ENSP00000297338;symbol=RAD21;score=.999 && partner=ENSP00000245811;symbol=TRMT2B;score=.899 && partner=ENSP00000216252;symbol=PHF5A;score=.899 && partner=ENSP00000215587;symbol=POLR2E;score=.899 && partner=ENSP00000215956;symbol=NHP2L1;score=.899 && partner=ENSP00000357928;symbol=CDC40;score=.899 && partner=ENSP00000350226;symbol=;score=.999 && partner=ENSP00000365457;symbol=;score=.899 && partner=ENSP00000246071;symbol=SNRPB2;score=.899 && partner=ENSP00000265433;symbol=NBN;score=.893 && partner=ENSP00000319318;symbol=STAG3;score=.95 && partner=ENSP00000263694;symbol=SNRNP40;score=.899 && partner=ENSP00000302004;symbol=;score=.899 && partner=ENSP00000345412;symbol=ENSG00000149532;score=.899 && partner=ENSP00000348345;symbol=HNRNPF;score=.899 && partner=ENSP00000272645;symbol=POLR2D;score=.899 && partner=ENSP00000364289;symbol=NCBP1;score=.899 && partner=ENSP00000247001;symbol=SF4;score=.899 && partner=ENSP00000269601;symbol=TXNL4A;score=.899 && partner=ENSP00000268482;symbol=DHX38;score=.899 && partner=ENSP00000233146;symbol=MSH2;score=.813 && partner=ENSP00000305790;symbol=SF3B3;score=.9 && partner=ENSP00000315849;symbol=POLR2J;score=.899 && partner=ENSP00000216727;symbol=PABPN1;score=.899 && partner=ENSP00000363313;symbol=PRPF4;score=.899 && partner=ENSP00000346694;symbol=HNRNPA2B1;score=.899 && partner=ENSP00000372883;symbol=ENSG00000172850;score=.899 && partner=ENSP00000244020;symbol=SFRS6;score=.899 && partner=ENSP00000326806;symbol=NCBP2;score=.899 && partner=ENSP00000333001;symbol=RBM8A;score=.899 && partner=ENSP00000313029;symbol=CHTF18;score=.75 && partner=ENSP00000234420;symbol=MSH6;score=.815 && partner=ENSP00000317123;symbol=SNRNP200;score=.899 && partner=ENSP00000335321;symbol=SF3B1;score=.899 && partner=ENSP00000316042;symbol=HNRNPA0;score=.899 && partner=ENSP00000351886;symbol=GTF2F2;score=.899 && partner=ENSP00000368856;symbol=NFX1;score=.899 && partner=ENSP00000300093;symbol=PLK1;score=.899 && partner=ENSP00000315791;symbol=CSTF3;score=.899 && partner=ENSP00000349428;symbol=PTBP1;score=.899 && partner=ENSP00000369629;symbol=U2AF1;score=.899 && partner=ENSP00000238112;symbol=CPSF3;score=.899 && partner=ENSP00000304903;symbol=CD2BP2;score=.899 && partner=ENSP00000313851;symbol=PDS5B;score=.978 && partner=ENSP00000315859;symbol=RNPS1;score=.899 && partner=ENSP00000342374;symbol=SNRPD2;score=.899 && partner=ENSP00000278916;symbol=CHEK1;score=.852 && partner=ENSP00000263201;symbol=CDC45L;score=.824 && partner=ENSP00000307288;symbol=MCM7;score=.953 && partner=ENSP00000341826;symbol=HNRPA1L3;score=.899 && partner=ENSP00000221859;symbol=POLR2I;score=.899 && partner=ENSP00000359988;symbol=SFRS11;score=.899 && partner=ENSP00000364550;symbol=KDM5C;score=.84 && partner=ENSP00000266743;symbol=SYCP3;score=.871 && partner=ENSP00000300291;symbol=NUDT21;score=.899 && partner=ENSP00000372023;symbol=CHEK2;score=.93 && partner=ENSP00000343054;symbol=RBM5;score=.899 && partner=ENSP00000325863;symbol=MRE11A;score=.943 && partner=ENSP00000264010;symbol=CTCF;score=.866 && partner=ENSP00000352675;symbol=NUMA1;score=.708 && partner=ENSP00000262414;symbol=EFTUD2;score=.9 && partner=ENSP00000368358;symbol=POLA1;score=.727 && partner=ENSP00000243563;symbol=SNRPA;score=.899 GeneCard: SUCLA2   succinate-CoA ligase, ADP-forming, beta subunit (GC13M047414; Chromosome 13:47,414,792-47,473,463) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000367923 | interactions: partner=ENSP00000363614;symbol=HMGCL;score=.8 && partner=ENSP00000322706;symbol=HMGCS1;score=.8 && partner=ENSP00000358414;symbol=HMGCS2;score=.8 && partner=ENSP00000344456;symbol=CTNNB1;score=.748 && partner=ENSP00000263383;symbol=ILVBL;score=.815 && partner=ENSP00000340820;symbol=MAPT;score=.823 && partner=ENSP00000353881;symbol=PPP3CB;score=.758 && partner=ENSP00000221891;symbol=APLP1;score=.813 && partner=ENSP00000332417;symbol=;score=.924 && partner=ENSP00000314649;symbol=ALDH5A1;score=.825 && partner=ENSP00000294785;symbol=NCSTN;score=.77 && partner=ENSP00000263035;symbol=DHTKD1;score=.91 && partner=ENSP00000205402;symbol=DLD;score=.926 && partner=ENSP00000356953;symbol=SDHC;score=.899 && partner=ENSP00000318585;symbol=BACE1;score=.728 && partner=ENSP00000285093;symbol=ACAA2;score=.8 && partner=ENSP00000353679;symbol=MME;score=.845 && partner=ENSP00000222673;symbol=OGDH;score=.911 && partner=ENSP00000363216;symbol=OGDHL;score=.912 && partner=ENSP00000265165;symbol=LEF1;score=.888 && partner=ENSP00000364699;symbol=SDHD;score=.935 && partner=ENSP00000338345;symbol=SNCA;score=.728 && partner=ENSP00000326366;symbol=PSEN1;score=.898 && partner=ENSP00000333664;symbol=ACAA1;score=.817 && partner=ENSP00000226102;symbol=;score=.899 && partner=ENSP00000374163;symbol=;score=.74 && partner=ENSP00000348062;symbol=PDHA1;score=.8 && partner=ENSP00000343752;symbol=;score=.806 && partner=ENSP00000265838;symbol=ACAT1;score=.8 && partner=ENSP00000237014;symbol=TTR;score=.861 && partner=ENSP00000274813;symbol=MUT;score=.917 && partner=ENSP00000307046;symbol=SDC2;score=.886 && partner=ENSP00000265986;symbol=IDE;score=.742 && partner=ENSP00000347232;symbol=BLM;score=.712 && partner=ENSP00000325484;symbol=;score=.8 && partner=ENSP00000335304;symbol=DLST;score=.952 && partner=ENSP00000261755;symbol=FAH;score=.8 && partner=ENSP00000307241;symbol=PDHB;score=.8 && partner=ENSP00000364649;symbol=SDHB;score=.947 && partner=ENSP00000295266;symbol=PDHA2;score=.8 && partner=ENSP00000252486;symbol=APOE;score=.804 && partner=ENSP00000356015;symbol=ACAT2;score=.8 && partner=ENSP00000295783;symbol=SUCLG1;score=.999 GeneCard: SUMO1   SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) (GC02M202779; Chromosome 2:202,779,148-202,811,567) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: The N-terminal internal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1. . . . GeneCard: SUPV3L1   suppressor of var1, 3-like 1 (S. cerevisiae) (GC10P070609; Chromosome 10:70,609,999-70,638,855) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. . . . GeneCard: TEP1   telomerase-associated protein 1 (GC14M019903; Chromosome 14:19,905,766-19,951,420) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Telomerase-associated Protein 1, HSP90, and Topoisomerase II{alpha} Associate Directly with the BLM Helicase in Immortalized Cells Using ALT and Modulate Its Helicase Activity Using Telomeric DNA Substrates. . . . GeneCard: TF   transferrin (GC03P134947; Chromosome 3:134,901,901-134,980,540) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000264998 | interactions: partner=ENSP00000259396;symbol=ORM1;score=.798 && partner=ENSP00000348170;symbol=HPR;score=.966 && partner=ENSP00000255030;symbol=CRP;score=.811 && partner=ENSP00000264613;symbol=CP;score=.982 && partner=ENSP00000319141;symbol=CYBRD1;score=.855 && partner=ENSP00000364321;symbol=ENSG00000204319;score=.72 && partner=ENSP00000253699;symbol=ZFYVE20;score=.736 && partner=ENSP00000331358;symbol=GAST;score=.8 && partner=ENSP00000353224;symbol=TFRC;score=.999 && partner=ENSP00000273047;symbol=RAB5A;score=.891 && partner=ENSP00000367064;symbol=CUBN;score=.872 && partner=ENSP00000261890;symbol=RAB11A;score=.866 && partner=ENSP00000368667;symbol=DDX53;score=.704 && partner=ENSP00000265983;symbol=HPX;score=.966 && partner=ENSP00000258886;symbol=IREB2;score=.827 && partner=ENSP00000265441;symbol=WNT2;score=.812 && partner=ENSP00000220616;symbol=TG;score=.744 && partner=ENSP00000290510;symbol=LEPREL2;score=.94 && partner=ENSP00000374180;symbol=;score=.755 && partner=ENSP00000285039;symbol=MYO5B;score=.718 && partner=ENSP00000230354;symbol=TBP;score=.853 && partner=ENSP00000266041;symbol=ITIH4;score=.709 && partner=ENSP00000370473;symbol=IGFBP3;score=.919 && partner=ENSP00000366124;symbol=CST3;score=.77 && partner=ENSP00000369812;symbol=CLU;score=.734 && partner=ENSP00000364444;symbol=ENSG00000204342;score=.72 && partner=ENSP00000342554;symbol=STX2;score=.8 && partner=ENSP00000359663;symbol=CD40LG;score=.853 && partner=ENSP00000261024;symbol=SLC40A1;score=.964 && partner=ENSP00000359664;symbol=CTBS;score=.718 && partner=ENSP00000284615;symbol=;score=.838 && partner=ENSP00000338018;symbol=HIF1A;score=.902 && partner=ENSP00000372814;symbol=ENSG00000204319;score=.72 && partner=ENSP00000323534;symbol=FN1;score=.783 && partner=ENSP00000233202;symbol=SLC11A1;score=.716 && partner=ENSP00000223051;symbol=TFR2;score=.997 && partner=ENSP00000342307;symbol=FOXM1;score=.845 && partner=ENSP00000341698;symbol=AKT1S1;score=.768 && partner=ENSP00000225927;symbol=NAGLU;score=.718 && partner=ENSP00000367992;symbol=ESD;score=.708 && partner=ENSP00000320866;symbol=CALR;score=.946 && partner=ENSP00000269122;symbol=CLTC;score=.883 && partner=ENSP00000273395;symbol=BOC;score=.956 && partner=ENSP00000348068;symbol=SERPINA1;score=.813 && partner=ENSP00000311698;symbol=HFE;score=.994 && partner=ENSP00000228226;symbol=HPR;score=.748 && partner=ENSP00000333298;symbol=LAMP1;score=.752 && partner=ENSP00000317441;symbol=AMPH;score=.805 && partner=ENSP00000363213;symbol=ORM2;score=.798 && partner=ENSP00000360798;symbol=EPS15;score=.927 && partner=ENSP00000362089;symbol=LCN2;score=.725 && partner=ENSP00000340858;symbol=B2M;score=.966 && partner=ENSP00000337014;symbol=HFE2;score=.939 && partner=ENSP00000309477;symbol=ACO1;score=.829 && partner=ENSP00000331342;symbol=RAB11FIP1;score=.769 && partner=ENSP00000268261;symbol=PMM2;score=.967 && partner=ENSP00000273951;symbol=GC;score=.77 && partner=ENSP00000317971;symbol=WDTC1;score=.841 && partner=ENSP00000261267;symbol=LYZ;score=.959 && partner=ENSP00000302665;symbol=IGF1;score=.929 && partner=ENSP00000358200;symbol=RAB11FIP2;score=.738 && partner=ENSP00000310129;symbol=PSMD2;score=.82 && partner=ENSP00000229239;symbol=GAPDHL6;score=.862 && partner=ENSP00000300682;symbol=ENGASE;score=.718 && partner=ENSP00000338548;symbol=FGF1;score=.746 && partner=ENSP00000370290;symbol=ALB;score=.973 && partner=ENSP00000346206;symbol=ENSG00000168394;score=.795 && partner=ENSP00000334145;symbol=F3;score=.811 && partner=ENSP00000371931;symbol=SYNJ1;score=.969 && partner=ENSP00000233809;symbol=IGFBP2;score=.709 && partner=ENSP00000280357;symbol=IL18;score=.865 && partner=ENSP00000317955;symbol=EEA1;score=.874 && partner=ENSP00000372648;symbol=;score=.72 && partner=ENSP00000226359;symbol=AFP;score=.953 && partner=ENSP00000366525;symbol=FTL;score=.993 && partner=ENSP00000260762;symbol=EXOC6;score=.729 && partner=ENSP00000273550;symbol=FTHL16;score=.737 && partner=ENSP00000262051;symbol=SLC11A2;score=.943 && partner=ENSP00000275525;symbol=IGFBP1;score=.756 && partner=ENSP00000372436;symbol=;score=.75 && partner=ENSP00000221972;symbol=CD79A;score=.965 && partner=ENSP00000252723;symbol=EPO;score=.893 && partner=ENSP00000237014;symbol=TTR;score=.97 && partner=ENSP00000370783;symbol=;score=.774 && partner=ENSP00000342316;symbol=PGM1;score=.722 && partner=ENSP00000370731;symbol=INS;score=.966 && partner=ENSP00000313164;symbol=DNM2;score=.712 && partner=ENSP00000263200;symbol=CLTCL1;score=.883 && partner=ENSP00000347232;symbol=BLM;score=.8 && partner=ENSP00000343939;symbol=HEPH;score=.914 && partner=ENSP00000273784;symbol=AHSG;score=.799 && partner=ENSP00000315637;symbol=ARNT;score=.908 && partner=ENSP00000222304;symbol=HAMP;score=.993 && partner=ENSP00000245907;symbol=C3;score=.81 && partner=ENSP00000267163;symbol=RB1;score=.955 && partner=ENSP00000248923;symbol=GGT4P;score=.818 && partner=ENSP00000374118;symbol=SMG1;score=.871 && partner=ENSP00000293230;symbol=CYGB;score=.869 && partner=ENSP00000366603;symbol=TGOLN2;score=.708 && partner=ENSP00000265171;symbol=EGF;score=.818 && partner=ENSP00000298316;symbol=ARF6;score=.768 && partner=ENSP00000323929;symbol=A2M;score=.861 GeneCard: TGFBR2   transforming growth factor, beta receptor II (70/80kDa) (GC03P030623; Chromosome 3:30,622,998-30,710,638) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Genetic progression in microsatellite instability high (MSI-H) colon cancers correlates with clinico-pathological parameters: A study of the TGRbetaRII, BAX, hMSH3, hMSH6, IGFIIR and BLM genes. . . . GeneCard: TMSB10   thymosin beta 10 (GC02P084986; Chromosome 2:84,986,274-84,987,310) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Simultaneous suppression of progression marker genes in the highly malignant human melanoma cell line BLM after transfection with the adenovirus-5 E1A gene. . . . GeneCard: TP53BP1   tumor protein p53 binding protein 1 (GC15M041486; Chromosome 15:41,486,699-41,590,028) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Phosphorylation-dependent interactions of BLM and 53BP1 are required for their anti-recombinogenic roles during homologous recombination. . . . GeneCard: TTK   TTK protein kinase (GC06P080771; Chromosome 6:80,771,076-80,808,958) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: MPS1-dependent mitotic BLM phosphorylation is important for chromosome stability. . . . GeneCard: XPA   xeroderma pigmentosum, complementation group A (GC09M099477; Chromosome 9:99,477,012-99,499,512) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000364270 | interactions: partner=ENSP00000265963;symbol=GTF2H1;score=.991 && partner=ENSP00000269305;symbol=TP53;score=.821 && partner=ENSP00000216714;symbol=APEX1;score=.798 && partner=ENSP00000373037;symbol=;score=.949 && partner=ENSP00000350708;symbol=RAD23B;score=.998 && partner=ENSP00000362131;symbol=RPA4;score=.897 && partner=ENSP00000305480;symbol=FEN1;score=.804 && partner=ENSP00000273320;symbol=ZNF167;score=.96 && partner=ENSP00000256443;symbol=CDK7;score=.953 && partner=ENSP00000285021;symbol=XPC;score=.999 && partner=ENSP00000262887;symbol=XRCC1;score=.851 && partner=ENSP00000013807;symbol=ERCC1;score=.999 && partner=ENSP00000223129;symbol=RPA3;score=.98 && partner=ENSP00000364454;symbol=FANCC;score=.811 && partner=ENSP00000352323;symbol=RASSF1;score=.776 && partner=ENSP00000371446;symbol=;score=.996 && partner=ENSP00000367787;symbol=LIG3;score=.743 && partner=ENSP00000365275;symbol=;score=.996 && partner=ENSP00000347978;symbol=ERCC5;score=.999 && partner=ENSP00000369013;symbol=;score=.992 && partner=ENSP00000356067;symbol=GTF2H5;score=.864 && partner=ENSP00000253727;symbol=NR1H2;score=.968 && partner=ENSP00000261245;symbol=MNAT1;score=.899 && partner=ENSP00000307183;symbol=ING2;score=.801 && partner=ENSP00000343392;symbol=XRCC3;score=.718 && partner=ENSP00000374300;symbol=;score=.983 && partner=ENSP00000361310;symbol=POLH;score=.903 && partner=ENSP00000310520;symbol=ERCC4;score=.996 && partner=ENSP00000348089;symbol=ERCC6;score=.983 && partner=ENSP00000374163;symbol=;score=.875 && partner=ENSP00000339097;symbol=ZNF169;score=.86 && partner=ENSP00000332353;symbol=PTCH1;score=.844 && partner=ENSP00000369447;symbol=;score=.956 && partner=ENSP00000321365;symbol=RAD23A;score=.74 && partner=ENSP00000368438;symbol=PCNA;score=.802 && partner=ENSP00000372088;symbol=RAD51;score=.777 && partner=ENSP00000363015;symbol=RPA2;score=.999 && partner=ENSP00000259365;symbol=TMOD1;score=.732 && partner=ENSP00000306561;symbol=OGG1;score=.751 && partner=ENSP00000347232;symbol=BLM;score=.74 && partner=ENSP00000256996;symbol=DDB2;score=.972 && partner=ENSP00000233146;symbol=MSH2;score=.738 && partner=ENSP00000351137;symbol=XAB2;score=.927 && partner=ENSP00000221481;symbol=ERCC2;score=.996 && partner=ENSP00000348232;symbol=;score=.949 && partner=ENSP00000228955;symbol=GTF2H3;score=.949 GeneCard: XRCC3   X-ray repair complementing defective repair in Chinese hamster cells 3 (GC14M103233; Chromosome 14:103,233,707-103,251,576) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Functional interactions between BLM and XRCC3 in the cell. . . . GeneCard: XRCC6   X-ray repair complementing defective repair in Chinese hamster cells 6 (GC22P040342; Chromosome 22:40,347,241-40,389,998) The following 1 record in the GeneCard text contributes to matching your query: - STRING: ensp: ENSP00000352257 | interactions: partner=ENSP00000231790;symbol=MLH1;score=.752 && partner=ENSP00000361423;symbol=ABL1;score=.956 && partner=ENSP00000343325;symbol=PKN1;score=.792 && partner=ENSP00000311508;symbol=RELA;score=.962 && partner=ENSP00000311579;symbol=TNKS;score=.905 && partner=ENSP00000262965;symbol=TCF3;score=.911 && partner=ENSP00000239165;symbol=HOXB7;score=.72 && partner=ENSP00000356468;symbol=IVNS1ABP;score=.899 && partner=ENSP00000333097;symbol=FIGLA;score=.899 && partner=ENSP00000298139;symbol=WRN;score=.998 && partner=ENSP00000320886;symbol=MLXIPL;score=.899 && partner=ENSP00000355759;symbol=PARP1;score=.897 && partner=ENSP00000264169;symbol=ORC4L;score=.794 && partner=ENSP00000300145;symbol=XRCC6BP1;score=.814 && partner=ENSP00000323099;symbol=ATRIP;score=.748 && partner=ENSP00000357032;symbol=MED23;score=.899 && partner=ENSP00000309572;symbol=TERT;score=.985 && partner=ENSP00000295738;symbol=SLC23A3;score=.728 && partner=ENSP00000351284;symbol=RAD52;score=.845 && partner=ENSP00000314151;symbol=KLK3;score=.978 && partner=ENSP00000209875;symbol=CBX5;score=.953 && partner=ENSP00000286317;symbol=MED7;score=.899 && partner=ENSP00000368100;symbol=RAD50;score=.902 && partner=ENSP00000334472;symbol=FOXE3;score=.899 && partner=ENSP00000254942;symbol=TERF2;score=.965 && partner=ENSP00000369812;symbol=CLU;score=.967 && partner=ENSP00000316779;symbol=BIN1;score=.733 && partner=ENSP00000305973;symbol=HOXC4;score=.831 && partner=ENSP00000337605;symbol=NCF4;score=.941 && partner=ENSP00000362441;symbol=ATRX;score=.737 && partner=ENSP00000350283;symbol=BRCA1;score=.803 && partner=ENSP00000279061;symbol=CD40;score=.742 && partner=ENSP00000251871;symbol=MED17;score=.899 && partner=ENSP00000368438;symbol=PCNA;score=.944 && partner=ENSP00000317636;symbol=RECQL5;score=.725 && partner=ENSP00000351894;symbol=NCOA6;score=.987 && partner=ENSP00000268489;symbol=ZFHX3;score=.899 && partner=ENSP00000304169;symbol=PITX2;score=.899 && partner=ENSP00000363231;symbol=HMGA1;score=.899 && partner=ENSP00000357259;symbol=BGLAP;score=.899 && partner=ENSP00000259803;symbol=GCM1;score=.899 && partner=ENSP00000318727;symbol=RECQL;score=.775 && partner=ENSP00000226730;symbol=IL2;score=.823 && partner=ENSP00000367527;symbol=DCLRE1C;score=.843 && partner=ENSP00000321326;symbol=F2R;score=.846 && partner=ENSP00000260947;symbol=BARD1;score=.995 && partner=ENSP00000225916;symbol=KAT2A;score=.909 && partner=ENSP00000263734;symbol=EPAS1;score=.899 && partner=ENSP00000344936;symbol=PTTG2;score=.953 && partner=ENSP00000321684;symbol=MEOX1;score=.899 && partner=ENSP00000216714;symbol=APEX1;score=.794 && partner=ENSP00000269305;symbol=TP53;score=.993 && partner=ENSP00000310449;symbol=;score=.993 && partner=ENSP00000344456;symbol=CTNNB1;score=.859 && partner=ENSP00000255465;symbol=CCNA1;score=.969 && partner=ENSP00000234420;symbol=MSH6;score=.702 && partner=ENSP00000305480;symbol=FEN1;score=.712 && partner=ENSP00000363640;symbol=PHF1;score=.86 && partner=ENSP00000266970;symbol=CDK2;score=.814 && partner=ENSP00000296543;symbol=NARG1;score=.974 && partner=ENSP00000309766;symbol=HDAC7;score=.755 && partner=ENSP00000259806;symbol=FOXF2;score=.899 && partner=ENSP00000364310;symbol=H2AFX;score=.867 && partner=ENSP00000344823;symbol=TCF7L2;score=.939 && partner=ENSP00000212015;symbol=SIRT1;score=.973 && partner=ENSP00000372191;symbol=SIRT3;score=.882 && partner=ENSP00000352271;symbol=XRCC2;score=.706 && partner=ENSP00000374163;symbol=;score=.977 && partner=ENSP00000351185;symbol=DNA2;score=.725 && partner=ENSP00000278916;symbol=CHEK1;score=.787 && partner=ENSP00000302269;symbol=VAV1;score=.757 && partner=ENSP00000313420;symbol=PRKDC;score=.999 && partner=ENSP00000356836;symbol=POU2F1;score=.873 && partner=ENSP00000360216;symbol=DNTT;score=.94 && partner=ENSP00000262426;symbol=FOXF1;score=.899 && partner=ENSP00000372088;symbol=RAD51;score=.746 && partner=ENSP00000342011;symbol=XRCC4;score=.994 && partner=ENSP00000363015;symbol=RPA2;score=.835 && partner=ENSP00000351745;symbol=;score=.845 && partner=ENSP00000265073;symbol=SUB1;score=.899 && partner=ENSP00000347232;symbol=BLM;score=.795 && partner=ENSP00000372023;symbol=CHEK2;score=.952 && partner=ENSP00000300086;symbol=TERF2IP;score=.864 && partner=ENSP00000299440;symbol=RAG1;score=.94 && partner=ENSP00000325863;symbol=MRE11A;score=.986 && partner=ENSP00000329623;symbol=BCL2;score=.745 && partner=ENSP00000293288;symbol=BAX;score=.996 && partner=ENSP00000329528;symbol=XRCC5;score=.999

Top of Minicards