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    BARD1 BRCA1 associated RING domain 1 [ Homo sapiens ]

    Gene ID: 580, updated on 11-May-2012

    Summary

    Official Symbol
    BARD1provided by HGNC
    Official Full Name
    BRCA1 associated RING domain 1provided by HGNC
    Primary source
    HGNC:952
    See related
    Ensembl:ENSG00000138376; HPRD:03354; MIM:601593; Vega:OTTHUMG00000133016
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    2q34-q35
    Sequence :
    Chromosome: 2; NC_000002.11 (215593262..215674428, complement)
    See BARD1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene von Willebrand factor C domain containing protein 2-like Neighboring gene endosulfine alpha pseudogene 3 Neighboring gene ribosomal protein L10 pseudogene Neighboring gene ATP-binding cassette, sub-family A (ABC1), member 12

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000002.9 NP_005216.1 E2F1    BIND  PubMed E2F1 interacts with the BARD1 promoter. 
    NC_000002.9 NP_001941.2 E2F4    BIND  PubMed E2F4 interacts with the BARD1 promoter region. 
    NP_000456.1 NP_000537.2 TP53    BIND  PubMed TP53 (p53) interacts with BARD1. 
    NP_000456.1 NP_001460.1 XRCC6    BIND  PubMed BARD1 interacts with XRCC6 (Ku70). 
    Q99728 Q99728 BARD1    HPRD  PubMed  
    Q99728 P20749 BCL3    HPRD  PubMed  
    Q99728 P38398 BRCA1    HPRD  PubMed  
    Q99728 Bromodomain containing 7 BRD7    HPRD  PubMed  
    Q99728 Q05048 CSTF1    HPRD  PubMed  
    Q99728 Q01844 EWSR1    HPRD  PubMed  
    Q99728 Q99689 FEZ1    HPRD  PubMed  
    Q99728 Q9Y2X7 GIT1    HPRD  PubMed  
    Q99728 P54257 HAP1    HPRD  PubMed  
    Q99728 O95163 IKBKAP    HPRD  PubMed  
    Q99728 Q8WYH8 ING5    HPRD  PubMed  
    Q99728 Q92993 KAT5    HPRD  PubMed  
    Q99728 O95251 KAT7    HPRD  PubMed  
    Q99728 Q14676 MDC1    HPRD  PubMed  
    Q99728 P43246 MSH2    HPRD  PubMed  
    Q99728 Q8N2W9 PIAS4    HPRD  PubMed  
    Q99728 P24928 POLR2A    HPRD  PubMed  
    Q99728 P14859 POU2F1    HPRD  PubMed  
    Q99728 P21246 PTN    HPRD  PubMed  
    Q99728 Q99708 RBBP8    HPRD  PubMed  
    Q99728 Q15047 SETDB1    HPRD  PubMed  
    Q99728 O14776 TCERG1    HPRD  PubMed  
    Q99728 P04637 TP53    HPRD  PubMed  
    Q99728 P12956 XRCC6    HPRD  PubMed  
    Q99728 Q9UKY1 ZHX1    HPRD  PubMed  
    BioGRID:107056 BioGRID:114646 AURKB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:107047 BACH1    BioGRID  PubMed Affinity Capture-Western; Co-localization; Co-purification 
    BioGRID:107056 BioGRID:107056 BARD1    BioGRID  PubMed Biochemical Activity; Co-purification; Reconstituted Complex 
    BioGRID:107056 BioGRID:107074 BCL3    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:107056 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-crystal Structure; Co-localization; Co-purification; FRET; Reconstituted Complex; Two-hybrid 
    BioGRID:107056 BioGRID:107142 BRCA2    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:107056 BioGRID:122599 BRCC3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:107056 BioGRID:114946 BRE    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:107056 BioGRID:107859 CSTF1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:107056 BioGRID:107860 CSTF2    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:107056 BioGRID:108403 ESR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:108431 EWSR1    BioGRID  PubMed Affinity Capture-Western; FRET; Reconstituted Complex; Two-hybrid 
    BioGRID:107056 BioGRID:123911 FAM175A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107056 BioGRID:118789 GIT1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:109268 H2AFX    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:114480 HAP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:130469 HIST2H2AB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:109314 HTT    BioGRID  PubMed Two-hybrid 
    BioGRID:107056 BioGRID:116315 KAT7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:114830 MED17    BioGRID  PubMed Co-purification 
    BioGRID:107056 BioGRID:110438 MLH1    BioGRID  PubMed Co-purification 
    BioGRID:107056 BioGRID:110501 MRE11A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:110573 MSH2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:110574 MSH3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:109211 MSH6    BioGRID  PubMed Co-purification; Reconstituted Complex 
    BioGRID:107056 BioGRID:110763 NBN    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:107056 BioGRID:110859 NFKBIA    BioGRID  PubMed Two-hybrid 
    BioGRID:107056 BioGRID:110929 NPM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:115373 NR1H3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:111433 POLR2H    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:107056 BioGRID:115417 RAD50    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:107056 BioGRID:111825 RAD51    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:107056 BioGRID:111867 RBBP8    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:107056 BioGRID:111902 RELA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:113871 SMC1A    BioGRID  PubMed Co-purification 
    BioGRID:107056 BioGRID:112730 TACC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:116120 TCERG1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:116256 TOPBP1    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:107056 BioGRID:113010 TP53    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:107056 BioGRID:113165 UBA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:107056 BioGRID:113169 UBE2D1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:113170 UBE2D2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:127156 UBE2U    BioGRID  PubMed Two-hybrid 
    BioGRID:107056 BioGRID:113185 UBE3A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107056 BioGRID:119239 UBXN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107056 BioGRID:119697 UIMC1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:107056 BioGRID:113340 XIST    BioGRID  PubMed Co-localization 
    BioGRID:107056 BioGRID:113353 XRCC5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107056 BioGRID:108822 XRCC6    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein ligase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mRNA 3'-end processing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein K6-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to DNA damage stimulus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    tissue homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    BRCA1-A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BRCA1-BARD1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    BRCA1-associated RING domain protein 1
    Names
    BRCA1-associated RING domain protein 1
    BARD-1
    BRCA1-associated RING domain gene 1
    BRCA1 associated RING domain 1 isoform eta
    BRCA1 associated RING domain 1 isoform phi
    BRCA1 associated RING domain 1 isoform alfa
    BRCA1 associated RING domain 1 isoform beta
    BRCA1 associated RING domain 1 isoform delta
    BRCA1 associated RING domain 1 isoform gamma
    BRCA1 associated RING domain 1 isoform epsilon

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012047.2 RefSeqGene

      Range
      5001..86167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000465.2NP_000456.2  BRCA1-associated RING domain protein 1

      Status: REVIEWED

      Source sequence(s)
      BC126426, BC126428, BU677525, BX098964, DB088853
      Consensus CDS
      CCDS2397.1
      UniProtKB/TrEMBL
      A0AVN2
      UniProtKB/Swiss-Prot
      Q99728
      Related
      ENSP00000260947, OTTHUMP00000163973, ENST00000260947, OTTHUMT00000256602
      Conserved Domains (6) summary
      cd00027
      Location:568641
      Blast Score: 127
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00162
      Location:5089
      Blast Score: 100
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd00204
      Location:424544
      Blast Score: 313
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:432524
      Blast Score: 275
      Ank_2; Ankyrin repeats (3 copies)
      pfam13923
      Location:4686
      Blast Score: 97
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
      cl00038
      Location:669712
      Blast Score: 98
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      215593262..215674428, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      207449412..207530541, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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