|Western Blot (WB)||2-4 µg/ml|
|Tested Species reactivity||Human|
|Host / Isotype||Mouse / IgG3, kappa|
|Immunogen||Human BRCA1 (residues 1314-1864).|
|Storage buffer||sodium borate|
|Storage conditions||4° C, store in dark|
Suggested positive control: U2OS and MCF-7 whole cell lysates.
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.
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Protein Aliases: BRCA1/BRCA2-containing complex; BRCA1/BRCA2-containing complex, subunit 1; BRCAI; BRCC1; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein 1; breast cancer 1; breast cancer 1, early onset; Breast cancer type 1 susceptibility protein; BROVCA1; early onset breast cancer 1; Fanconi anemia, complementation group S; IRIS; PNCA4; PPP1R53; protein phosphatase 1; protein phosphatase 1, regulatory subunit 53; PSCP; regulatory subunit 53; RING finger protein 53; RING-type E3 ubiquitin transferase BRCA1; RNF53; subunit 1; truncated BRCA1; truncated breast and ovarian cancer susceptibility protein 1; truncated breast and ovarian cancer sususceptibility protein 1; truncated breast cancer type 1 susceptibility protein
Gene Aliases: BRCA1; BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4; PPP1R53; PSCP; RNF53
UniProt ID: (Human) P38398
Entrez Gene ID: (Human) 672
Molecular Function: ubiquitin-protein ligase
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