BRCA1 (breast and ovarian cancer susceptibility protein 1) is a nuclear phosphoprotein that plays a role in maintaining genomic stability and acts as a tumor suppressor in combination with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as BASC (for BRCA1 associated genome surveillance complex). BRCA1 associates with RNA polymerase II, and through the C terminal domain, also interacts with histone deacetylase complex. The BRCA1 protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in the BRCA1 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.
Protein Aliases: brca 1; brca-1; BRCA1/BRCA2-containing complex, subunit 1; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein 1; breast cancer 1; breast cancer 1 early onset; breast cancer 1, early onset; Breast cancer type 1 susceptibility protein; Breast cancer type 1 susceptibility protein homolog; BROVCA12; Delta772-3095; early onset breast cancer 1; Fanconi anemia, complementation group S; OTTHUMP00000212147; OTTHUMP00000212148; OTTHUMP00000212149; OTTHUMP00000212150; OTTHUMP00000212151; OTTHUMP00000212155; protein phosphatase 1, regulatory subunit 53; RING finger protein 53; RING-type E3 ubiquitin transferase BRCA1; truncated BRCA1; truncated breast and ovarian cancer susceptibility protein 1; truncated breast and ovarian cancer sususceptibility protein 1; truncated breast cancer type 1 susceptibility protein
Gene Aliases: BRCA1; BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4; PPP1R53; PSCP; RNF53
Molecular Function: ubiquitin-protein ligase