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].

BRCA1 associated RING domain 1MIM:601593Ensembl:ENSG00000138376HGNC:HGNC:952PA252562q35

GO terms in BARD1

Term TypeEvidence TypeGO Term IDGO Des.
CCNASGO:0000151ubiquitin ligase complex
CCIDAGO:0016607nuclear speck
CCIDAGO:0031436BRCA1-BARD1 complex
CCIDAGO:0036464cytoplasmic ribonucleoprotein granule
CCIDAGO:0070531BRCA1-A complex
BPTASGO:0000729DNA double-strand break processing
BPTASGO:0001894tissue homeostasis
BPTASGO:0006260DNA replication
BPTASGO:0006303double-strand break repair via nonhomologous end joining
BPNASGO:0006974cellular response to DNA damage stimulus
BPNASGO:0007050cell cycle arrest
BPNASGO:0016567protein ubiquitination
BPTASGO:0016579protein deubiquitination
BPNASGO:0031441negative regulation of mRNA 3'-end processing
BPIMPGO:0042325regulation of phosphorylation
BPIMPGO:0043065positive regulation of apoptotic process
BPIMPGO:0043066negative regulation of apoptotic process
BPNASGO:0045732positive regulation of protein catabolic process
BPIDAGO:0046826negative regulation of protein export from nucleus
BPIDAGO:0085020protein K6-linked ubiquitination
MFIDAGO:0003723RNA binding
MFIDAGO:0004842ubiquitin-protein transferase activity
MFNASGO:0004842ubiquitin-protein transferase activity
MFIPIGO:0005515protein binding
MFNASGO:0019900kinase binding
MFIPIGO:0042803protein homodimerization activity
MFIEAGO:0046872metal ion binding
MFIPIGO:0046982protein heterodimerization activity

Gene expression in normal tissue: BARD1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in BARD1

DatabasePathway IDPathway Des.
pidbard1pathwayBARD1 signaling events
kegghsa03440Homologous recombination - Homo sapiens (human)
wikipathwaysWP1984Integrated Breast Cancer Pathway
wikipathwaysWP2446Retinoblastoma (RB) in Cancer
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-3700989Transcriptional Regulation by TP53
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-5633007Regulation of TP53 Activity
reactomeR-HSA-5685938HDR through Single Strand Annealing (SSA)
reactomeR-HSA-5685942HDR through Homologous Recombination (HRR)
reactomeR-HSA-5689603UCH proteinases
reactomeR-HSA-5689901Metalloprotease DUBs
reactomeR-HSA-5693532DNA Double-Strand Break Repair
reactomeR-HSA-5693537Resolution of D-Loop Structures
reactomeR-HSA-5693538Homology Directed Repair
reactomeR-HSA-5693554Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
reactomeR-HSA-5693565Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
reactomeR-HSA-5693567HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
reactomeR-HSA-5693568Resolution of D-loop Structures through Holliday Junction Intermediates
reactomeR-HSA-5693571Nonhomologous End-Joining (NHEJ)
reactomeR-HSA-5693579Homologous DNA Pairing and Strand Exchange
reactomeR-HSA-5693606DNA Double Strand Break Response
reactomeR-HSA-5693607Processing of DNA double-strand break ends
reactomeR-HSA-5693616Presynaptic phase of homologous DNA pairing and strand exchange
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-6804756Regulation of TP53 Activity through Phosphorylation
reactomeR-HSA-69473G2/M DNA damage checkpoint
reactomeR-HSA-69481G2/M Checkpoints
reactomeR-HSA-69620Cell Cycle Checkpoints
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73894DNA Repair
reactomeR-HSA-74160Gene expression (Transcription)
biocartabard1pathwaybrca1 dependent ub ligase activity

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BARD1