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.
BRCA1; breast cancer 1, early onset; breast cancer type 1 susceptibility protein; BRCA1/BRCA2 containing complex; subunit 1; BRCC1; PPP1R53; protein phosphatase 1; regulatory subunit 53; RNF53; RING finger protein 53; BRCA1/BRCA2-containing complex, subunit 1; protein phosphatase 1, regulatory subunit 53; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein 1; IRIS; PSCP; BRCAI; PNCA4; BROVCA1;
DNA binding; DNA binding; RNA binding; androgen receptor binding; damaged DNA binding; enzyme binding; ligase activity; metal ion binding; protein binding; transcription coactivator activity; transcription regulatory region DNA binding; tubulin binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; contributes_to ubiquitin-protein ligase activity; zinc ion binding;