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, May 2009].
BRCA1
宿主: 人
宿主: Baculovirus
Recombinant
The purified recombinant protein is greater than 95 % homogeneous and contains no detectable protease, DNase and RNase activity.
in vitro, ProA, PI
BRCA1, DNA repair associated (BRCA1) 蛋白 breast cancer 1 (brca1) 蛋白 breast cancer 1, early onset (LOC755086) 蛋白 breast cancer 1, early onset (Brca1) 蛋白 BRCA1, DNA repair associated (Brca1) 蛋白 breast cancer 1, early onset (BRCA1) 蛋白 breast cancer 1 L homeolog (brca1.L) 蛋白 brca1 蛋白 BRCA1 蛋白 BRCAI 蛋白 brcai 蛋白 BRCC1 蛋白 brcc1 蛋白 BROVCA1 蛋白 IRIS 蛋白 iris 蛋白 LOC100224649 蛋白 PNCA4 蛋白 PPP1R53 蛋白 PSCP 蛋白 pscp 蛋白 RNF53 蛋白 rnf53 蛋白