Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

BRCA1

Gene Alias

BRCAI, BRCC1, IRIS, PSCP, RNF53

Gene Description

breast cancer 1, early onset

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

BRCA1/BRCA2-containing complex, subunit 1|breast and ovarian cancer susceptibility protein 1