菜单 基因医生

该基因编码一种通过磷酸化sxxf基序与乳腺癌1(brca1)的c末端重复序列结合的蛋白质。编码蛋白将含有1蛋白的泛素相互作用基序招募到brca1蛋白中,用于dna损伤抗性、dna修复和细胞周期检查点控制。该基因的假基因出现在第3和第8染色体上。选择性剪接导致多个转录变体。[由RefSeq提供,2016年9月]
This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

基因名:ABRAXAS1
别名:ABRA1,CCDC98,FAM175A
基因ID:84142
Chromosome:
(GRCh37)
4 Start: 84382092 End: 84406290 Strand: 
信号通路:  
ABRAXAS1 基因突变与药物