BARD1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| BRCA1 associated RING domain 1 | MIM:601593 | Ensembl:ENSG00000138376 | HGNC:HGNC:952 | PA25256 | 2q35 |
GO terms in BARD1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | NAS | GO:0000151 | ubiquitin ligase complex |
| CC | IDA | GO:0005634 | nucleus |
| CC | IMP | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0016607 | nuclear speck |
| CC | IDA | GO:0031436 | BRCA1-BARD1 complex |
| CC | IDA | GO:0036464 | cytoplasmic ribonucleoprotein granule |
| CC | IDA | GO:0070531 | BRCA1-A complex |
| BP | TAS | GO:0000729 | DNA double-strand break processing |
| BP | TAS | GO:0001894 | tissue homeostasis |
| BP | TAS | GO:0006260 | DNA replication |
| BP | TAS | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | NAS | GO:0006974 | cellular response to DNA damage stimulus |
| BP | NAS | GO:0007050 | cell cycle arrest |
| BP | NAS | GO:0016567 | protein ubiquitination |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | NAS | GO:0031441 | negative regulation of mRNA 3'-end processing |
| BP | IMP | GO:0042325 | regulation of phosphorylation |
| BP | IMP | GO:0043065 | positive regulation of apoptotic process |
| BP | IMP | GO:0043066 | negative regulation of apoptotic process |
| BP | NAS | GO:0045732 | positive regulation of protein catabolic process |
| BP | IDA | GO:0046826 | negative regulation of protein export from nucleus |
| BP | IDA | GO:0085020 | protein K6-linked ubiquitination |
| MF | IDA | GO:0003723 | RNA binding |
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | NAS | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | NAS | GO:0019900 | kinase binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0046982 | protein heterodimerization activity |
Gene expression in normal tissue: BARD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BARD1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | bard1pathway | BARD1 signaling events |
| kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
| wikipathways | WP1984 | Integrated Breast Cancer Pathway |
| wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5633007 | Regulation of TP53 Activity |
| reactome | R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689603 | UCH proteinases |
| reactome | R-HSA-5689901 | Metalloprotease DUBs |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693537 | Resolution of D-Loop Structures |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates |
| reactome | R-HSA-5693571 | Nonhomologous End-Joining (NHEJ) |
| reactome | R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| biocarta | bard1pathway | brca1 dependent ub ligase activity |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BARD1
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