该基因编码一种在维持基因组稳定性中起作用的核磷蛋白,并作为肿瘤抑制因子发挥作用。编码蛋白与其他肿瘤抑制因子、DNA损伤传感器和信号转导子结合形成一个大的多亚单位蛋白复合物,称为BRCA1相关基因组监测复合物(BASC)。该基因产物与RNA聚合酶Ⅱ结合,并通过C端域与组蛋白脱乙酰基酶复合物相互作用。因此,这种蛋白在转录、双链断裂的DNA修复和重组中起到作用。该基因突变导致约40%的遗传性乳腺癌和80%以上的遗传性乳腺癌和卵巢癌。选择性剪接对该基因的亚细胞定位和生理功能起着调节作用。许多选择性剪接的转录变体,其中一些是疾病相关的突变,已经被描述为这个基因,但只有一些变体的全长性质已经被描述。已经鉴定出一个相关的假基因,也位于17号染色体上。
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.

基因名:BRCA1
别名:BRCAI,BRCC1,BROVCA1,FANCS,IRIS,PNCA4,PPP1R53,PSCP,RNF53
基因ID:672
Chromosome:
(GRCh37)
17 Start: 41196312 End: 41277500 Strand: -1
信号通路: 细胞增殖  细胞周期  基因组不稳定  遗传相关 
靶向药: 西地尼布  CX-3543 CX-5461  奥拉帕利  PLATINUM Rucaparib  Talazoparib  Taxane 维利帕尼 
化疗药: 卡铂 顺铂 吉西他滨 长春瑞滨 
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