Homo sapiens Gene: BARD1
Summary
InnateDB Gene IDBG-80113.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BARD1
Gene Name BRCA1 associated RING domain 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000138376
Encoded Proteins
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:214725646-214809711
Strand Reverse strand
Band q35
Transcripts
ENST00000260947 ENSP00000260947
ENST00000432456 ENSP00000405020
ENST00000449967 ENSP00000406752
ENST00000455743 ENSP00000412186
ENST00000421162 ENSP00000392245
ENST00000471590
ENST00000465841
ENST00000471787
ENST00000479904
ENST00000613706 ENSP00000484976
ENST00000613374 ENSP00000484464
ENST00000617164 ENSP00000480470
ENST00000619009 ENSP00000482293
ENST00000620057 ENSP00000481988
ENST00000613192 ENSP00000483275
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 314 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 314 [view]
Protein-Protein 308 [view]
Protein-DNA 5 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0019900 kinase binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
Biological Process
GO:0001894 tissue homeostasis
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0007050 cell cycle arrest
GO:0016567 protein ubiquitination
GO:0031441 negative regulation of mRNA 3'-end processing
GO:0042325 regulation of phosphorylation
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0045732 positive regulation of protein catabolic process
GO:0046826 negative regulation of protein export from nucleus
GO:0085020 protein K6-linked ubiquitination
Cellular Component
GO:0000151 ubiquitin ligase complex
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0031436 BRCA1-BARD1 complex
GO:0043231 intracellular membrane-bounded organelle
GO:0070531 BRCA1-A complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
BARD1 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000465 NM_001282543 NM_001282545 NM_001282548 NM_001282549
HUGO
OMIM
CCDS CCDS2397 CCDS74645 CCDS74646 CCDS74647 CCDS74648
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas