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BLM Gene

protein-coding   GIFtS: 68
GCID: GC15P091260

Bloom Syndrome, RecQ Helicase-Like

(Previous name: Bloom syndrome)
  See BLM-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bloom Syndrome, RecQ Helicase-Like1 2     Bloom Syndrome1
RECQ22 3 5     RECQL22
RECQL32 3 5     Bloom Syndrome Protein2
RecQ Protein-Like 32 3     EC 3.6.4.123
DNA Helicase, RecQ-Like Type 22 3     RecQ23
BS2 5     EC 3.6.18

External Ids:    HGNC: 10581   Entrez Gene: 6412   Ensembl: ENSG000001972997   OMIM: 6046105   UniProtKB: P541323   

Export aliases for BLM gene to outside databases

Previous GC identifers: GC15P087894 GC15P085101 GC15P088847 GC15P088990 GC15P089061 GC15P067371


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BLM Gene:
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, Jul 2008)

GeneCards Summary for BLM Gene:
BLM (Bloom syndrome, RecQ helicase-like) is a protein-coding gene. Diseases associated with BLM include bloom syndrome, and rothmund-thomson syndrome. GO annotations related to this gene include ATPase activity and ATP-dependent helicase activity. An important paralog of this gene is RECQL4.

UniProtKB/Swiss-Prot: BLM_HUMAN, 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. Involved in 5'-end resection of DNA
during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA.
Negatively regulates sister chromatid exchange (SCE)

Gene Wiki entry for BLM (Bloom syndrome protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the BLM gene promoter:
         USF1   p53   AP-1   ATF-2   GATA-1   PPAR-gamma1   NRF-2   USF-1   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLM promoter sequence
   Search Chromatin IP Primers for BLM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

BLM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLM gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P091260:  view genomic region     (about GC identifiers)

Start:
91,260,558 bp from pter      End:
91,358,859 bp from pter
Size:
98,302 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BLM_HUMAN, P54132 (See protein sequence)
Recommended Name: Bloom syndrome protein  
Size: 1417 amino acids; 159000 Da
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 (via N-terminus region) component of RMI complex. Interacts with SUPV3L1.
Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR.
Interacts with TOP3A (via N-terminus region). Interacts with SPIDR (via C-terminus region); the interaction is
direct and required to target BLM to sites of DNA damage
6 PDB 3D structures from and Proteopedia for BLM:
2KV2 (3D)        2RRD (3D)        3WE2 (3D)        3WE3 (3D)        4CDG (3D)        4CGZ (3D)    
Secondary accessions: Q52M96

Explore the universe of human proteins at neXtProt for BLM: NX_P54132

Explore proteomics data for BLM at MOPED

Post-translational modifications: 

  • Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein
    complex, as well as the presence of RMI11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BLM (P54132) (see all 8)
     MALTATA  VHYFNIF  GKSLCYQ  GIIYCLSR 


    See BLM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000048.1  NP_001274175.1  NP_001274176.1  NP_001274177.1  

    ENSEMBL proteins: 
     ENSP00000347232   ENSP00000454158   ENSP00000453359  
    Reactome Protein details: P54132

    BLM Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for BLM

     
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    antibodies-online proteins for BLM (2 products) 

     
    antibodies-online peptides for BLM

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 11):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR004589 DNA_helicase_ATP-dep_RecQ
     IPR010997 HRDC-like
     IPR002464 DNA/RNA_helicase_DEAH_CS
     IPR011991 WHTH_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry P54132

    ProtoNet protein and cluster: P54132

    3 Blocks protein domains:
    IPB002121 HRDC domain
    IPB002464 ATP-dependent helicase
    IPB012532 BDHCT


    UniProtKB/Swiss-Prot: BLM_HUMAN, P54132
    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


    Find genes that share domains with BLM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BLM_HUMAN, 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. Involved in 5'-end resection of DNA
    during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA.
    Negatively regulates sister chromatid exchange (SCE)
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for BLM:
    DNA helicase,ATP dependent,expressed in thymus,testis,colocalizing with RPA heterotrimeric ss DNA binding protein
    in meiotic prophase nuclei of spermatocytes,stimulated by single and DNA double strand breaks,upregulated at the
    G1-S stage of the cell cycle,homologous to yeast Sgs1,E coli RecQ,involved in DNA repair and maintenance of
    genome integrity,RecQl family

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000405bubble DNA binding IDA11433031
    GO:0002039p53 binding IPI11781842
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
         
    Find genes that share ontologies with BLM           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BLM:
     Decreased POU5F1-GFP protein e 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Blm):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     immune system  integument  mortality/aging  no phenotypic analysis  normal 
     tumorigenesis 

    Find genes that share phenotypes with BLM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BLM: Blmtm1Grdn Blmtm1Ches Blmtm2Brd Blmtm3Ches Blmtm3Brd

       genOway: Develop your customized and physiologically relevant rodent model for BLM

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    miRTarBase miRNAs that target BLM:
    hsa-mir-192-5p (MIRT026815), hsa-mir-193b-3p (MIRT016590), hsa-mir-215-5p (MIRT024921)

    Block miRNA regulation of human, mouse, rat BLM using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate BLM
    SwitchGear 3'UTR luciferase reporter plasmidBLM 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BLM_HUMAN, P54132: Nucleus. Note=Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced
    foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI
    complex- and SPIDR-dependent manner
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome IDA--
    GO:0000781colocalizes with chromosome, telomeric region IDA10779560
    GO:0000800lateral element IDA10728666
    GO:0001673male germ cell nucleus IEA--
    GO:0005622intracellular ----

    Find genes that share ontologies with BLM           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BLM About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Meiosis (REACTOME)
    Meiosis0.74
    Meiotic Recombination0.74
    2Prostate Cancer
    Prostate Cancer0.32
    Integrated Cancer pathway0.32
    3Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32
    4Homologous recombination
    Homologous recombination0.40
    5Regulation of Telomerase
    Regulation of Telomerase


    Find genes that share SuperPaths with BLM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for BLM
        BRCA1 Pathway

    2 Cell Signaling Technology (CST) Pathways for BLM
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for BLM
        DNA damage ATM/ATR regulation of G1/S checkpoint

    5 BioSystems Pathways for BLM
        Integrated Breast Cancer Pathway
    Integrated Pancreatic Cancer Pathway
    Prostate Cancer
    Regulation of Telomerase
    Integrated Cancer pathway

    1 Reactome Pathway for BLM
        Meiotic recombination


    2 Kegg Pathways  (Kegg details for BLM):
        Homologous recombination
    Fanconi anemia pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BLM: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BLM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BLM (P541321, 2, 3 ENSP000003472324) via UniProtKB, MINT, STRING, and/or I2D (see all 786)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRIP1Q9BX631, 2, 3, ENSP000002590084EBI-621372,EBI-3509650 MINT-8140896 MINT-8140932 MINT-8140908 MINT-8140923 MINT-8141084 MINT-8141063 MINT-8140879 MINT-8151233 MINT-8140957 MINT-8140977 MINT-8151248 MINT-8141011 MINT-8141100 MINT-8140943 MINT-8141074 MINT-8140834 I2D: score=2 STRING: ENSP00000259008
    RIF1Q5UIP02, 3, ENSP000002433264MINT-8049128 MINT-8048995 MINT-8048961 MINT-8049038 MINT-8048980 MINT-7945693 MINT-8049010 MINT-8049107 I2D: score=1 STRING: ENSP00000243326
    TOP3AQ134722, 3, ENSP000003216364MINT-8049128 MINT-8048995 MINT-8415512 MINT-8048961 MINT-8049038 MINT-8048980 MINT-8049010 I2D: score=5 STRING: ENSP00000321636
    BRCA1P383982, 3, ENSP000003502834MINT-8141011 MINT-8140834 I2D: score=1 STRING: ENSP00000350283
    MLH1P406922, 3, ENSP000002317904MINT-7945693 I2D: score=4 STRING: ENSP00000231790
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity IMP15604258
    GO:0000085mitotic G2 phase NAS11309417
    GO:0000723telomere maintenance IEA--
    GO:0000724double-strand break repair via homologous recombination NAS11309417
    GO:0000729DNA double-strand break processing IDA--

    Find genes that share ontologies with BLM           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BLM

    1 HMDB Compound for BLM    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    4 Novoseek inferred chemical compound relationships for BLM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyurea 61.1 16 14729972 (3), 18278455 (2), 11960380 (1), 18923083 (1) (see all 6)
    methylmethanesulfonate 59.8 1 18078829 (1)
    camptothecin 31.1 5 16199871 (2), 18504617 (1)
    atp 1.33 9 14576316 (2), 17766252 (2), 15579905 (2), 17878217 (1)



    Find genes that share compounds with BLM           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BLM gene (4 alternative transcripts): 
    NM_000057.3  NM_001287246.1  NM_001287247.1  NM_001287248.1  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355112(uc002bpr.3 uc010uqh.2 uc010uqi.2 uc010bnx.3)
    ENST00000560509 ENST00000559724 ENST00000559282 ENST00000558599 ENST00000559426
    ENST00000560136 ENST00000560559 ENST00000558825 ENST00000560821
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    Selected AceView cDNA sequences (see all 75):

    AI097184 U39817 CR597614 CB243435 BM451903 BM804157 BM542461 AU185765 
    BI091772 BQ230262 NM_000057 BI091601 CR615303 AI630521 AA903504 AA584761 
    BC034480 BP363946 AW575595 BU588736 BE538092 BX474261 BM040993 BG772975 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BLM (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:              -                                               -                                                     -                             -         
    SP2:                                            -                                                                                                               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25a · 25b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for BLM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BLM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAAAGATA
    BLM Expression
    About this image

    BLM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLM Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including BLM: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              T-cell & B-cell Activation in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BLM gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Blm1 , 5 Bloom syndrome, RecQ helicase-like1, 5 82.25(n)1
    77.27(a)1
      7 (45.65 cM)5
    121441  NM_007550.41  NP_031576.41 
     804549935 
    chicken
    (Gallus gallus)
    Aves BLM1 Bloom syndrome, RecQ helicase-like 59.66(n)
    55.84(a)
      415577  NM_001007087.1  NP_001007088.2 
    lizard
    (Anolis carolinensis)
    Reptilia BLM6
    Bloom syndrome, RecQ helicase-like
    52(a)
    1 ↔ 1
    2(135010404-135051639)
    African clawed frog
    (Xenopus laevis)
    Amphibia blm-A2 Bloom syndrome 76.66(n)    AF307841.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.131832 Transcribed sequence with weak similarity to protein more 75.21(n)    BG883546.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mus3093 DNA repair synthesis ATP dependent DNA
    helicase
    38(a)   86F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea him-63 helicase 40(a)   IV(12487752-12495313)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGS16
    Nucleolar DNA helicase of the RecQ family; involve...
    22(a)
    1 → many
    XIII(640915-645258) YMR190C
    barley
    (Hordeum vulgare)
    Liliopsida BF625574.22   -- 71.99(n)    BF625574.2 


    ENSEMBL Gene Tree for BLM (if available)
    TreeFam Gene Tree for BLM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLM gene
    RECQL42  WRN2  RECQL52  RECQL2  
    1 SIMAP similar gene for BLM using alignment to 5 protein entries:     BLM_HUMAN (see all proteins):
    RECQL

    Find genes that share paralogs with BLM           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for BLM
    PGOHUM00000261518


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BLM (see all 2439)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0069014
    Bloom syndrome (BLM)4--see VAR_0069012 Q R mis40--------
    VAR_0069034
    Bloom syndrome (BLM)4--see VAR_0069032 C S mis40--------
    VAR_0160334
    Bloom syndrome (BLM)4--see VAR_0160332 C R mis40--------
    VAR_0091384
    Bloom syndrome (BLM)4--see VAR_0091382 G E mis40--------
    VAR_0091394
    Bloom syndrome (BLM)4--see VAR_0091392 C Y mis40--------
    VAR_0069024
    Bloom syndrome (BLM)4--see VAR_0069022 T I mis40--------
    VAR_0091404
    Bloom syndrome (BLM)4--see VAR_0091402 C F mis40--------
    VAR_0160324
    Bloom syndrome (BLM)4--see VAR_0160322 I T mis40--------
    rs1139939621,2
    Cpathogenic171034633(+) TACATATCTGA/ 
     TAGATTC
    CAGGT
    2 YLT LDSR fra10--------
    rs1489692221,2
    Cpathogenic171071448(+) TAAAGA/G/TTATAG 1 -- spd11NA 4364

    HapMap Linkage Disequilibrium report for BLM (91260558 - 91358859 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BLM:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673999CNV Deletion23128226
    nsv94962CNV Loss16902084

    Human Gene Mutation Database (HGMD): BLM
    Locus Specific Mutation Databases (LSDB): BLM

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604610   
    OMIM disorders: 210900  
    UniProtKB/Swiss-Prot: BLM_HUMAN, P54132
  • Bloom syndrome (BLM) [MIM:210900]: An autosomal recessive disorder. It is characterized by proportionate
    pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition
    to malignancy, and chromosomal instability. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 5 diseases for BLM:    
    About MalaCards
    bloom syndrome    rothmund-thomson syndrome    werner syndrome    fanconi anemia, complementation group m
    muscular dystrophy-dystroglycanopathy

    3 diseases from the University of Copenhagen DISEASES database for BLM:
    Bloom syndrome     Werner syndrome     Genetic disorder

    Find genes that share disorders with BLM           About GenesLikeMe

    Selected Novoseek inferred disease relationships for BLM gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bloom syndrome 98.7 105 15137905 (5), 18401830 (3), 17407155 (2), 9285778 (2) (see all 79)
    werner syndrome 92 19 15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 19)
    rothmund-thomson syndrome 91.1 12 15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 12)
    ataxia telangiectasia 69.9 7 16199871 (1), 17768402 (1), 11309417 (1), 17984114 (1) (see all 7)
    skin abnormalities 68.4 2 19238688 (1)
    genetic disorder 66.8 6 12595564 (1), 18401830 (1), 18430459 (1), 17634426 (1) (see all 6)
    cancer 57.8 45 19432957 (5), 16181657 (1), 17599064 (1), 18682526 (1) (see all 33)
    fanconis anemia 55.3 4 19738377 (2), 11876000 (1), 11733219 (1)
    nijmegen breakage syndrome 48.8 1 11733219 (1)
    chromosomal aberrations 44.2 3 10652259 (1), 10620009 (1), 19465921 (1)

    Genatlas disease: BLM
    Bloom syndrome,characterized by dwarfism,sun sensitivity,immunodeficiency and a high risk for various
    cancers,,with increased chromosomal instability (increased large DNA deletions) and sister chromatide exchanges

    GeneTests: BLM
    GeneReviews: BLM
    Genetic Association Database (GAD): BLM
    Human Genome Epidemiology (HuGE) Navigator: BLM (47 documents)

    Export disorders for BLM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BLM gene, integrated from 10 sources (see all 320):
    (articles sorted by number of sources associating them with BLM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. (PubMed id 9285778)1, 2, 4, 9 Foucault F.... Amor-Gueret M. (Hum. Mol. Genet. 1997)
    2. The Bloom's syndrome gene product is a 3'-5' DNA helicase. (PubMed id 9388193)1, 2, 3 Karow J.K.... Hickson I.D. (J. Biol. Chem. 1997)
    3. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PubMed id 19432957)1, 4, 9 Broberg K....HAPglund M. (BMC Cancer 2009)
    4. Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. (PubMed id 18974064)1, 4, 9 Ding S.L....Shen C.Y. (Carcinogenesis 2009)
    5. A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75. (PubMed id 16595695)1, 2, 9 Raynard S.... Sung P. (J. Biol. Chem. 2006)
    6. Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PubMed id 19945966)1, 4, 9 Frank B....Brenner H. (Carcinogenesis 2010)
    7. The Bloom's syndrome gene product is homologous to RecQ helicases. (PubMed id 7585968)1, 2, 9 Ellis N.A.... German J. (Cell 1995)
    8. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. (PubMed id 19205873)1, 4, 9 Wang Z....Shen H. (Breast Cancer Res. Treat. 2009)
    9. Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. (PubMed id 17961633)1, 2, 9 Pereira M.... Stepien P.P. (Mech. Ageing Dev. 2007)
    10. Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (PubMed id 11876000)1, 4, 9 Peleg L....Barkai G. (Isr. Med. Assoc. J. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 641 HGNC: 1058 AceView: BLM Ensembl:ENSG00000197299 euGenes: HUgn641
    ECgene: BLM Kegg: 641 H-InvDB: BLM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BLM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLM Genetics and Cytogenetics in Oncology and Haematology
    BLMbasehttp://bioinf.uta.fi/BLMbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BLM[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/blm/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BLM gene:
    Search GeneIP for patents involving BLM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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