DAXX

该基因编码一种多功能蛋白质,位于细胞核和细胞质的多个位置。它与多种蛋白质相互作用,如凋亡抗原fas、着丝粒蛋白c和转录因子红细胞增多症病毒e26癌基因同源物1。在细胞核中,编码的蛋白质作为一种与sumoylated转录因子结合的有效转录抑制因子发挥作用。它的抑制作用可以通过将这种蛋白质固定在早幼粒细胞白血病的核体或核仁中而得到缓解。这种蛋白也与g2期的着丝粒相联系。在细胞质中,编码蛋白可能起到调节细胞凋亡的作用。该蛋白的亚细胞定位和功能受翻译后修饰的调控,包括sumoylation、磷酸化和多泛素化。选择性剪接导致多个转录变体。[由RefSeq提供,2008年11月]
This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

别名

DAP6,EAP1,BING2,SMIM40

基因id

Chromosome:6 Start: 33286335 End: 33290793 Strand: 

药物

突变与药物

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