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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UIMC1 Gene

protein-coding   GIFtS: 55
GCID: GC05M176265

Ubiquitin Interaction Motif Containing 1

  See 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)
About This Section

Aliases
Ubiquitin Interaction Motif Containing 11 2     Ubiquitin Interaction Motif-Containing Protein 12 3
RAP802 3 5     X2HRIP1102
Receptor Associated Protein 801 2     BRCA1-A Complex Subunit RAP802
Receptor-Associated Protein 802 3     Retinoid X Receptor Interacting Protein2
Retinoid X Receptor-Interacting Protein 1102 3     RXRIP1103

External Ids:    HGNC: 302981   Entrez Gene: 517202   Ensembl: ENSG000000872067   OMIM: 6094335   UniProtKB: Q96RL13   

Export aliases for UIMC1 gene to outside databases

Previous GC identifer: GC05M171254


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for UIMC1 Gene: 
UIMC1 (ubiquitin interaction motif containing 1) is a protein-coding gene. Diseases associated with UIMC1 include familial breast cancer, and breast cancer susceptibility. GO annotations related to this gene include K63-linked polyubiquitin binding and histone binding.

UniProtKB/Swiss-Prot: UIMC1_HUMAN, Q96RL1
Function: Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Plays a
central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX
at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand
breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes
'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity
than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such
results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a
transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1

Gene Wiki entry for UIMC1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UIMC1 gene promoter:
         Spz1   NF-1   NF-1/L   Pbx1a   Arnt   HNF-4alpha1   PPAR-gamma1   POU2F1   POU2F1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UIMC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UIMC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UIMC1


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

Entrez Gene cytogenetic band: 5q35.2   Ensembl cytogenetic band:  5q35.2   HGNC cytogenetic band: 5q35.2

UIMC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UIMC1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M176265:  view genomic region     (about GC identifiers)

Start:
176,332,006 bp from pter      End:
176,449,634 bp from pter
Size:
117,629 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UIMC1_HUMAN, Q96RL1 (See protein sequence)
Recommended Name: BRCA1-A complex subunit RAP80  
Size: 719 amino acids; 79727 Da
Subunit: Interacts with TSP57 (By similarity). Component of the BRCA1-A complex, at least composed of the BRCA1,
BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts
directly with FAM175A/Abraxas. Interacts with ESR1, NR6A1 and UBE2I
Subcellular location: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs)
Sequence caution: Sequence=AAH06078.1; Type=Erroneous termination; Positions=386; Note=Translated as Glu;
1 PDB 3D structure from and Proteopedia for UIMC1:
2RR9 (3D)    
Secondary accessions: A8MSA1 B3KMZ1 B4E3N2 Q5XKQ1 Q7Z3W7 Q8N5B9 Q9BZR1 Q9BZR5 Q9UHX7
Alternative splicing: 5 isoforms:  Q96RL1-1   Q96RL1-2   Q96RL1-3   Q96RL1-4   Q96RL1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UIMC1: NX_Q96RL1

Explore proteomics data for UIMC1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated
  • UniProtKB: Phosphorylated upon DNA damage by ATM or ATR
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96RL1

  • UIMC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UIMC1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001186226.1  NP_001186227.1  NP_057374.3  

    ENSEMBL proteins: 
     ENSP00000366434   ENSP00000427480   ENSP00000421926   ENSP00000425566   ENSP00000423717  
     ENSP00000423885   ENSP00000425163   ENSP00000423534   ENSP00000366425  

    Human Recombinant Protein Products for UIMC1: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for UIMC1
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    Novus Biologicals UIMC1 Proteins
    Novus Biologicals UIMC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UIMC1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0070531BRCA1-A complex IDA17525340

    UIMC1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for UIMC1 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003903 Ubiquitin-int_motif

    Graphical View of Domain Structure for InterPro Entry Q96RL1

    ProtoNet protein and cluster: Q96RL1

    UniProtKB/Swiss-Prot: UIMC1_HUMAN, Q96RL1
    Domain: The UIM-linker region between the 2 UIM repeats determines the selectivity for 'Lys-63'-linked ubiquitin.
    The length of the linker is important. The linker reduces the flexibility between the UIM repeats and promotes
    high-affinity and linkage-selective interactions
    Domain: The Abraxas-interacting region (AIR) mediates the interaction with FAM175A/Abraxas
    Similarity: Belongs to the RAP80 family
    Similarity: Contains 2 UIM (ubiquitin-interacting motif) repeats


    UIMC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UIMC1_HUMAN, Q96RL1
    Function: Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Plays a
    central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX
    at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand
    breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes
    'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity
    than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such
    results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a
    transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12080054
    GO:0042393histone binding IDA17525341
    GO:0046965retinoid X receptor binding IEA--
    GO:0070530K63-linked polyubiquitin binding IDA17525341
         
    UIMC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UIMC1:
     Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Uimc1):
     cellular  homeostasis/metabolism  mortality/aging  no phenotypic analysis  tumorigenesis 

    UIMC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Uimc1tm1.2Amj for UIMC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UIMC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UIMC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UIMC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UIMC1 

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UIMC1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UIMC1

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

    5/78 Interacting proteins for UIMC1 (Q96RL11, 2, 3 ENSP000003664344) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAM175AQ6UWZ71, 3, ENSP000003698574EBI-725300,EBI-1263451 I2D: score=3 STRING: ENSP00000369857
    BRCA1P383981, 3, ENSP000003502834EBI-725300,EBI-349905 I2D: score=2 STRING: ENSP00000350283
    SKILP127572, 3MINT-61671 I2D: score=3 
    ENSG00000206481Q146763, ENSP000003730604I2D: score=1 STRING: ENSP00000373060
    ENSG00000224587Q146763I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair IMP17525340
    GO:0006351transcription, DNA-dependent IEA--
    GO:0010212response to ionizing radiation IMP17525340
    GO:0031572G2 DNA damage checkpoint IMP17525340
    GO:0045739positive regulation of DNA repair IMP17525340

    UIMC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UIMC1

    Search CenterWatch for drugs/clinical trials and news about UIMC1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UIMC1 gene (3 alternative transcripts): 
    NM_001199297.1  NM_001199298.1  NM_016290.4  

    Unigene Cluster for UIMC1:

    Ubiquitin interaction motif containing 1
    Hs.232721  [show with all ESTs]
    Unigene Representative Sequence: NM_001199297
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377227 ENST00000506128(uc003mff.1) ENST00000511320(uc021yim.1 uc021yin.1 uc003mfd.2 uc021yio.1)
    ENST00000512031 ENST00000510698 ENST00000510376 ENST00000505229 ENST00000503273(uc003mfe.1)
    ENST00000509236 ENST00000417486(uc011dfq.2) ENST00000515488 ENST00000507513
    ENST00000505879 ENST00000428382 ENST00000377219(uc021yil.1)
    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): UIMC1 (NM_016290)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UIMC1
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    Sirion Biotech Customized lentivirus for stable overexpression of UIMC1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UIMC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UIMC1

    Additional mRNA sequence: 

    AF113538.1 AF349313.1 AK023044.1 AL137375.1 BC006078.1 BC032561.1 BX537376.1 EF077642.1 
    EF077644.1 

    18 DOTS entries:

    DT.448450  DT.100706920  DT.100797224  DT.91743988  DT.120835395  DT.100797223  DT.100735665  DT.75114551 
    DT.95169141  DT.100797225  DT.120835400  DT.437280  DT.120835407  DT.40121349  DT.91743992  DT.97846275 
    DT.86839969  DT.95256616 

    24/230 AceView cDNA sequences (see all 230):

    BM455100 T32711 CD678411 AA861264 BU621261 AI494032 BU633201 BM997459 
    BE258193 CB240789 BX433798 AA307853 Z44350 BE551893 BX537376 BM458702 
    CB162258 CB124487 AW571981 CR603572 AA461498 BF724720 CR619611 BM720008 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for UIMC1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for UIMC1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UIMC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UIMC1 Expression
    About this image


    See UIMC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UIMC1

    SOURCE GeneReport for Unigene cluster: Hs.232721

    UniProtKB/Swiss-Prot: UIMC1_HUMAN, Q96RL1
    Tissue specificity: Expressed in testis, ovary, thymus and heart. Expressed in germ cells of the testis

        SABiosciences Custom PCR Arrays for UIMC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UIMC1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for UIMC1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uimc11 , 5 ubiquitin interaction motif containing 11, 5 85.62(n)1
    77.03(a)1
      13 (29.80 cM)5
    201841  NM_011307.21  NP_035437.11 
     550278805 
    chicken
    (Gallus gallus)
    Aves UIMC11 ubiquitin interaction motif containing 1 57.3(n)
    45.73(a)
      416145  XM_414476.3  XP_414476.3 
    lizard
    (Anolis carolinensis)
    Reptilia UIMC16
    Uncharacterized protein
    39(a)
    1 ↔ 1
    2(145012343-145101491)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003321601 uncharacterized LOC100332160 48.11(n)
    39.34(a)
      100332160  XM_002663817.2  XP_002663863.2 


    ENSEMBL Gene Tree for UIMC1 (if available)
    TreeFam Gene Tree for UIMC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UIMC1 gene
    1 SIMAP similar gene for UIMC1 using alignment to 7 protein entries:     UIMC1_HUMAN (see all proteins):
    DKFZp434I1926

    UIMC1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2061 SNPs in UIMC1 are shown (see all 2061)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357468081,2
    C--171346290(-) GGAAA-/AG/GA 
            
    GAGTT
    3 -- int11NA 2
    rs1881154591,2
    --176331628(+) AAATAA/GTTGCA 3 -- int10--------
    rs1927483841,2
    --176331635(+) TGCATA/GGGCAT 3 -- int10--------
    rs1489594951,2
    --176331790(+) TAGTGG/TGAGTC 3 -- int10--------
    rs1842566361,2
    --176331798(+) GTCAAA/TGCCCC 3 -- int10--------
    rs29628351,2
    C,F,O,H--176331832(-) TTGACT/CGTTTC 3 -- int124Minor allele frequency- C:0.14NA NS EA WA 2790
    rs1436401721,2
    --176331854(+) ATGTTC/TGGAAT 3 -- int10--------
    rs1892049791,2
    --176331952(+) AACTAC/TCTCTA 3 -- int10--------
    rs124221,2
    C,F--176332256(+) AATGGG/TTTTGT 3 -- ut310--------
    rs1396733231,2
    C--176332321(+) GGTCCG/ATGTCC 6 /R /W mis11Minor allele frequency- A:0.00NA 4540

    HapMap Linkage Disequilibrium report for UIMC1 (176332006 - 176449634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for UIMC1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2656890CNV Deletion23128226
    esv1009754CNV Deletion20482838
    nsv436485CNV Deletion17901297
    esv2624268CNV Deletion19546169
    esv3627CNV Deletion18987735
    esv2102565CNV Deletion18987734
    esv2731185CNV Deletion23290073
    esv994326CNV Deletion20482838
    esv1688212CNV Insertion17803354
    nsv5145CNV Loss18451855


    Human Gene Mutation Database (HGMD): UIMC1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UIMC1
    DNA2.0 Custom Variant and Variant Library Synthesis for UIMC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609433    OMIM disorders: --

    5 diseases for UIMC1:    About MalaCards
    familial breast cancer    breast cancer susceptibility    breast cancer    ovarian cancer
    lung cancer

    1 disease from the University of Copenhagen DISEASES database for UIMC1:
    Breast cancer

    UIMC1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UIMC1
    Human Genome Epidemiology (HuGE) Navigator: UIMC1 (5 documents)

    Export disorders for UIMC1 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)
    About This Section

    PubMed articles for UIMC1 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with UIMC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RAP80: a novel nuclear protein that interacts with the retinoid- related testis-associated receptor. (PubMed id 12080054)1, 2, 3, 9 Yan Z.... Jetten A.M. (2002)
    2. Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases. (PubMed id 18695986)1, 2, 4 Novak D.J....Tischkowitz M. (2009)
    3. The ubiquitin-interacting motif containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response. (PubMed id 17621610)1, 2, 9 Yan J.... Jetten A.M. (2007)
    4. RAP80 responds to DNA damage induced by both ionizing radiation and UV irradiation and is phosphorylated at Ser 205. (PubMed id 18519686)1, 2, 9 Yan J.... Jetten A.M. (2008)
    5. Tandem protein interaction modules organize the ubiqui tin-dependent response to DNA double-strand breaks. (PubMed id 22742833)1, 2 Panier S....Durocher D. (2012)
    6. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PubMed id 22267201)1, 4 Stolk L....Lunetta K.L. (2012)
    7. MERIT40 facilitates BRCA1 localization and DNA damage repair. (PubMed id 19261748)1, 2 Feng L.... Chen J. (2009)
    8. Linkage-specific avidity defines the lysine 63-linked polyubiquitin- binding preference of rap80. (PubMed id 19328070)1, 2 Sims J.J. and Cohen R.E. (2009)
    9. The Rap80-BRCC36 de-ubiquitinating enzyme complex antagonizes RNF8- Ubc13-dependent ubiquitination events at DNA double strand breaks. (PubMed id 19202061)1, 2 Shao G.... Greenberg R.A. (2009)
    10. MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks. (PubMed id 19261746)1, 2 Shao G.... Greenberg R.A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 51720 HGNC: 30298 AceView: RAP80 Ensembl:ENSG00000087206 euGenes: HUgn51720
    ECgene: UIMC1 H-InvDB: UIMC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UIMC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UIMC1 gene:
    Search GeneIP for patents involving UIMC1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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