菜单 基因医生

该基因编码的蛋白是蛋白酪氨酸磷酸酶(ptp)家族的一员。ptps是调节细胞生长、分化、有丝分裂周期和癌基因转化等多种细胞过程的信号分子。ptp是一种大的细胞内蛋白。它的c-末端有一个催化ptp结构域和两个主要结构域:一个具有五个pdz结构域的区域和一个与质膜和细胞骨架元素结合的ferm结构域。ptp通过pdz结构域与磷酸脱磷、fas受体和ikappabalpha相互作用。这表明它在fas介导的细胞程序性死亡中起作用。ptp还与gtpase激活蛋白相互作用,可能作为rho信号通路的调节因子。已经报道了四种选择性剪接的转录变体,它们编码不同的蛋白质。[由RefSeq提供,2008年10月]
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

基因名:PTPN13
别名:PNP1,FAP-1,PTP1E,PTPL1,PTPLE,PTP-BL,hPTP1E,PTP-BAS
基因ID:5783
Chromosome:
(GRCh37)
4 Start: 87515468 End: 87736332 Strand: 
信号通路:  
PTPN13 基因突变与药物