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BRCA1
the BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACC1 and preventing its dephosphorylation. Defects in BRCA1 are a cause of genetic susceptibility to breast cancer. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association may be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts (via BRCT domains) with CTIP. Associates with RNA polymerase II holoenzyme. Interacts with SMC1 and COBRA1. Interacts (via BRCT domains) with BRIP1. Interacts with FANCD2 (ubiquitinated). Interacts with BAP1. Interacts with Artemis and claspin. Interacts with H2AFX (phosphorylated on S140). Interacts with CHK1. Interacts with BRCC3. Five human isoforms are produced by alternative splicing and alternative initiation. Isoform 1 and isoform 3 are widely expressed. Isoform 1 is largely nuclear, while isoforms 3 and 5 are cytoplasmic. Note: This description may include information from UniProtKB.
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| Protein type: EC 6.3.2.-; Nuclear receptor co-regulator; Ubiquitin conjugating system; Transcription, coactivator/corepressor; Ubiquitin ligase; Tumor suppressor |
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Cellular Component: nucleoplasm; filamentous actin; ruffle; gamma-tubulin ring complex; focal adhesion; protein complex; BRCA1-BARD1 complex; plasma membrane; chromosome; nucleus; ribonucleoprotein complex; ubiquitin ligase complex
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Molecular Function: tubulin binding; identical protein binding; protein binding; enzyme binding; androgen receptor binding; DNA binding; zinc ion binding; RNA binding; ubiquitin protein ligase binding; transcription coactivator activity; ubiquitin-protein ligase activity
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Biological Process: apoptosis; positive regulation of transcription, DNA-dependent; protein ubiquitination; positive regulation of histone H3-K4 methylation; chromosome segregation; regulation of apoptosis; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; double-strand break repair; fatty acid biosynthetic process; negative regulation of fatty acid biosynthetic process; negative regulation of histone H3-K9 methylation; protein autoubiquitination; positive regulation of DNA repair; postreplication repair; DNA repair; cell cycle; negative regulation of centriole replication; double-strand break repair via homologous recombination; regulation of cell proliferation; regulation of transcription from RNA polymerase II promoter; DNA damage response, signal transduction resulting in induction of apoptosis; regulation of transcription from RNA polymerase III promoter; response to estrogen stimulus; positive regulation of protein ubiquitination; androgen receptor signaling pathway; positive regulation of histone acetylation; positive regulation of transcription from RNA polymerase II promoter; response to ionizing radiation; negative regulation of transcription, DNA-dependent; G2/M transition DNA damage checkpoint; response to DNA damage stimulus
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Reference #:
P38398 (UniProtKB)
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| Alt. Names/Synonyms: BRCA1; BRCA1/BRCA2-containing complex, subunit 1; BRCAI; BRCC1; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein; breast cancer 1, early onset; Breast cancer type 1 susceptibility protein; BROVCA1; IRIS; PSCP; RING finger protein 53; RNF53 |
| Gene Symbols: BRCA1 |
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Molecular weight: 207,721 Da
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Basal Isoelectric point: 5.29
Predict pI for various phosphorylation states
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CST Pathways:
Cell Cycle: G2/M DNA Damage Checkpoint
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Protein Acetylation
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Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®
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