BRCAI
BRCC1
IRIS
PSCP
RNF53
PNCA4
BROVCA1
PPP1R53

The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. BRCA1 acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. BRCA1 plays a central role in DNA repair by facilitating cellular response to DNA repair. BRCA1 is required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. BRCA1 is involved in transcriptional regulation of P21 in response to DNA damage. BRCA1 is also required for FANCD2 targeting to sites of DNA damage.It may function as a transcriptional regulator. BRCA1 inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation.This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and 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 BASC for BRCA1-associated genome surveillance complex. This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complex. 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 have been described for this gene but only some have had their full-length natures identified.