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BARD1 BRCA1 associated RING domain 1 [ Homo sapiens (human) ]

Gene ID: 580, updated on 26-Aug-2014
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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
See BARD1 in Epigenomics, MapViewer
Location:
2q34-q35
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (214725646..214809711, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215590370..215674428, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene von Willebrand factor C domain containing protein 2-like Neighboring gene VWC2L intronic transcript 1 (non-protein coding) Neighboring gene endosulfine alpha pseudogene 3 Neighboring gene uncharacterized LOC101928103 Neighboring gene ribosomal protein L10 pseudogene Neighboring gene ATP-binding cassette, sub-family A (ABC1), member 12

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Familial cancer of breast Compare labs

NHGRI GWAS Catalog

Description
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
NHGRI GWA Catalog
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
NHGRI GWA Catalog
Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
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 transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase 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 
cellular response to DNA damage stimulus 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 
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 membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin ligase complex NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
BRCA1-associated RING domain protein 1
Names
BRCA1-associated RING domain protein 1
BRCA1-associated RING domain gene 1

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 

    Range
    4994..89059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000465.3NP_000456.2  BRCA1-associated RING domain protein 1 isoform 1

    See proteins identical to NP_000456.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC016708, BC126426, BC126428, BU753556, BX098964, DB088853
    Consensus CDS
    CCDS2397.1
    UniProtKB/TrEMBL
    A0AVN2
    UniProtKB/Swiss-Prot
    Q99728
    Related
    ENSP00000260947, OTTHUMP00000163973, ENST00000260947, OTTHUMT00000256602
    Conserved Domains (4) summary
    cd00027
    Location:568641
    Blast Score: 139
    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: 105
    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 ...
    cd00204
    Location:424544
    Blast Score: 350
    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: 277
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001282543.1NP_001269472.1  BRCA1-associated RING domain protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2, also known as alpha) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790280
    Consensus CDS
    CCDS74646.1
    UniProtKB/TrEMBL
    A0AVN2
    UniProtKB/TrEMBL
    F6MDH7
    UniProtKB/Swiss-Prot
    Q99728
    Related
    ENSP00000480470, ENST00000617164
    Conserved Domains (4) summary
    cd00027
    Location:549622
    Blast Score: 139
    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 ...
    cd00204
    Location:405525
    Blast Score: 350
    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:413505
    Blast Score: 277
    Ank_2; Ankyrin repeats (3 copies)
    cl17238
    Location:4186
    Blast Score: 231
    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 ...
  3. NM_001282545.1NP_001269474.1  BRCA1-associated RING domain protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks four consecutive exons in the coding region, compared to variant 1. The resulting isoform (3, also known as phi) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BU753556, DB088853, JF790283
    Consensus CDS
    CCDS74647.1
    UniProtKB/TrEMBL
    F6MDI0
    Related
    ENSP00000484976, ENST00000613706
    Conserved Domains (2) summary
    cd00027
    Location:117190
    Blast Score: 139
    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 ...
    cl17238
    Location:4173
    Blast Score: 181
    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 ...
  4. NM_001282548.1NP_001269477.1  BRCA1-associated RING domain protein 1 isoform 4

    See proteins identical to NP_001269477.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks five consecutive exons in the coding region, compared to variant 1. The resulting isoform (4, also known as delta) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BU753556, DB088853, JF790284
    Consensus CDS
    CCDS74645.1
    UniProtKB/TrEMBL
    F6MDI1
    Related
    ENSP00000484464, ENST00000613374
    Conserved Domains (1) summary
    cd00027
    Location:98171
    Blast Score: 141
    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 ...
  5. NM_001282549.1NP_001269478.1  BRCA1-associated RING domain protein 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) six consecutively exons in the coding region, compared to variant 1. The resulting isoform (5, also known as epsilon) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC016708, BU753556, DB088853, JF790285
    Consensus CDS
    CCDS74648.1
    UniProtKB/TrEMBL
    F6MDI2
    Related
    ENSP00000482293, ENST00000619009
    Conserved Domains (2) summary
    cd00027
    Location:161254
    Blast Score: 85
    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: 91
    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 ...

RNA

  1. NR_104212.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016708, AK301843, AK314260, BC126426, BU753556, BX098964, DB088853
  2. NR_104215.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two consecutive exons in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790281
  3. NR_104216.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016708, BC126428, BU753556, BX098964, DB088853, JF790282

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    214725646..214809711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    207446525..207530548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    215596760..215680800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)