免 疫 原：KLH conjugated synthesised phosphopeptide derived from human BRCA1 around the phosphorylation site of Ser1466
抗原表位：PI(p-S)QN
SWISS：P38398
Gene ID ：672
Human Gene ID：672

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].
Function：E3 ubiquitin-protein ligase that specifically mediatesthe formation of 'Lys-6'-linked polyubiquitin chains and plays acentral role in DNA repair by facilitating cellular responses toDNA damage. It is unclear whether it also mediates the formation ofother
Subunit：Heterodimer with BARD1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the ce
Subcellular Location：Cytoplasm; Nucleus. Localizes at sites of DNA damage at double-strand breaks (DSBs) and recruitment to DNA damage sites is mediated by the BRCA1-A complex.
Tissue Specificity：Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.
Post-translational modifications：Phosphorylation at Ser-308 by AURKA is required for normalcell cycle progression from G2 to mitosis. Phosphorylated inresponse to IR, UV, and various stimuli that cause checkpointactivation, probably by ATM or ATR. Phosphorylation at Ser-988 byCHEK2 regul
DISEASE：Defects in BRCA1 are a cause of susceptibility to breastcancer (BC) [MIM:114480]. A common malignancy originating frombreast epithelial tissue. Breast neoplasms can be distinguished bytheir histologic pattern. Invasive ductal carcinoma is by far themost c
Similarity：Contains 2 BRCT domains.
Contains 1 RING-type zinc finger.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.