|Immunohistochemistry (Paraffin) (IHC (P))||1:50-1:100|
|Western Blot (WB)||1:500-1:1000|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Peptide sequence around phosphorylation site of serine 1423 (H-G-S(p)-Q-P) derived from Human BRCA1.|
|Storage buffer||PBS, pH 7.4, with 50% glycerol|
|Contains||0.02% sodium azide|
A suggested positive control for Western blot is HT29 cells; suggested positive control for IHC is human breast carcinoma.
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, subunit 1; 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 1, early onset; Breast cancer type 1 susceptibility protein; BROVCA12; early onset breast cancer 1; Fanconi anemia, complementation group S; IRIS; protein phosphatase 1, regulatory subunit 53; PSCP; RING Finger Protein 53; RING-type E3 ubiquitin transferase BRCA1; RNF53; 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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