Profil protéine

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.

Alternative names and synonyms associated with BRCA1

• BRCA1, DNA repair associated (BRCA1) anticorps
• breast cancer 1 (brca1) anticorps
• breast cancer 1, early onset (LOC755086) anticorps
• breast cancer 1, early onset (Brca1) anticorps
• BRCA1, DNA repair associated (Brca1) anticorps
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• breast cancer 1, early onset (BRCA1) anticorps
• breast cancer 1 L homeolog (brca1.L) anticorps

• BRCA1 anticorps
• brcai anticorps
• brcc1 anticorps
• BROVCA1 anticorps
• iris anticorps
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• LOC100224649 anticorps
• PNCA4 anticorps
• PPP1R53 anticorps
• pscp anticorps
• rnf53 anticorps

Protein level used designations for Breast Cancer 1 Protéines (BRCA1)

BRCA1/BRCA2-containing complex, subunit 1 , RING finger protein 53 , breast and ovarian cancer susceptibility protein 1 , breast and ovarian cancer sususceptibility protein 1 , breast cancer type 1 susceptibility protein , protein phosphatase 1, regulatory subunit 53 , BRCA1 homologue , breast cancer type 1 susceptibility protein homolog , breast cancer 1, early onset , BRCA1 homolog , breast and ovarian cancer susceptibility protein , breast cancer associated 1