BRCA1 Recombinant Mouse Monoclonal Antibody [A7E3-R] (HA601304)

UNIPROT #

P38398

PROTEIN NAME

BRCA1

SYNONYMS

BRCA 1 antibody;BRCA1 antibody;BRCA1 DNA repair associated antibody;BRCA1/BRCA2 containing complex subunit 1 antibody;BRCA1/BRCA2-containing complex, subunit 1 antibody;BRCA1_HUMAN antibody;BRCAI antibody;BRCC 1 antibody;BRCC1 antibody;Breast and ovarian cancer susceptibility protein 1 antibody;Breast Cancer 1 antibody;Breast Cancer 1 Early Onset antibody;Breast cancer type 1 susceptibility protein antibody;BROVCA1 antibody;FANCS antibody;IRIS antibody;PNCA4 antibody;PPP1R53 antibody;Protein phosphatase 1 regulatory subunit 53 antibody;PSCP antibody;RING finger protein 53 antibody;RNF53 antibody

SUBCELLULAR LOCATION

Cytoplasm, Nucleus, Chromosome.

FUNCTION

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. 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.