菜单 基因医生

该基因编码的蛋白质催化鞘氨醇的磷酸化形成鞘氨醇-1-磷酸(S1P),一种具有细胞内和细胞外功能的脂质介质。在细胞内,s1p调节增殖和存活,在细胞外,它是细胞表面G蛋白偶联受体的配体。这种蛋白及其产物s1p在TNFα信号传导和在炎症、抗凋亡和免疫过程中重要的NF-kappa-b激活途径中起关键作用。另外,还发现了编码不同亚型的剪接转录变体。
The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

基因名:SPHK1
别名:SPHK
基因ID:8877
Chromosome:
(GRCh37)
17 Start: 74372665 End: 74383941 Strand: 1
信号通路:  
SPHK1 基因突变与药物