菜单 基因医生

该基因编码的蛋白是蛋白酪氨酸磷酸酶(PTP)家族的成员。众所周知,PTP是调节多种细胞过程的信号分子,包括细胞生长、分化、有丝分裂周期和致癌转化。该PTP的N端部分包含两个串联的SRC同系物(SH2)结构域,作为蛋白磷酸-酪氨酸结合结构域,并介导该PTP与其底物的相互作用。这种PTP主要在造血细胞中表达,并作为造血细胞多种信号通路的重要调节因子。这种PTP已被证明与参与造血细胞信号传导的广谱磷酸蛋白相互作用并去磷酸化。该基因的多种选择性剪接变体编码不同的亚型,已被报道。
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported.

基因名:PTPN6
别名:HCP,HCPH,HPTP1C,PTP-1C,SH-PTP1,SHP-1,SHP-1L,SHP1
基因ID:5777
Chromosome:
(GRCh37)
12 Start: 7055631 End: 7070479 Strand: 1
信号通路:  
PTPN6 基因突变与药物