This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40 % of inherited breast cancers and more than 80 % of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009].
Synonyms: BRCA1 phospho S1387, BRCA1 phospho Ser1387, p-BRCA1 S1387, p-BRCA1 Ser1387, p-BRCA1 phospho S1387, BRCA 1, BRCA1, BRCA1/BRCA2 containing complex subunit 1, BRCA1/BRCA2-containing complex, subunit 1, BRCA1_HUMAN, BRCAI, BRAC 1, BRCA 1, BRCC 1, BRCC1, Breast Cancer 1, Breast Cancer 1 Early Onset, Breast cancer type 1 susceptibility protein, Breast and ovarian cancer susceptibility protein 1, Breast Ovarian Cancer Susceptibility, IRIS, Papillary Serous Carcinoma Of The Peritoneum, PSCP, RING finger protein 53, BROVCA1, IRIS, PNCA4, PPP1R53, Protein phosphatase 1 regulatory subunit 53, RNF53, BAP1.