該基因編碼一種在維持基因組穩定性中起作用的核磷蛋白,并作為腫瘤抑制因子發揮作用。編碼蛋白與其他腫瘤抑制因子、DNA損傷傳感器和信號轉導子結合形成一個大的多亞單位蛋白復合物,稱為BRCA1相關基因組監測復合物(BASC)。該基因產物與RNA聚合酶Ⅱ結合,并通過C端域與組蛋白脫乙酰基酶復合物相互作用。因此,這種蛋白在轉錄、雙鏈斷裂的DNA修復和重組中起到作用。該基因突變導致約40%的遺傳性乳腺癌和80%以上的遺傳性乳腺癌和卵巢癌。選擇性剪接對該基因的亞細胞定位和生理功能起著調節作用。許多選擇性剪接的轉錄變體,其中一些是疾病相關的突變,已經被描述為這個基因,但只有一些變體的全長性質已經被描述。已經鑒定出一個相關的假基因,也位于17號染色體上。
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
別名:BRCAI,BRCC1,BROVCA1,FANCS,IRIS,PNCA4,PPP1R53,PSCP,RNF53
基因ID:672
Chromosome:
(GRCh37)
17 Start: 41196312 End: 41277500 Strand: -1
信號通路: 細胞增殖  細胞周期  基因組不穩定  遺傳相關 
靶向藥: 西地尼布  CX-3543 CX-5461  奧拉帕利  PLATINUM 盧卡帕尼,魯卡帕尼  他拉唑帕尼  Taxane 維利帕尼 
化療藥: 卡鉑 順鉑 吉西他濱 長春瑞濱 
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