Sphingomyelin synthase 1 (SGMS1)

Sphingomyelin synthase 1 (SGMS1) is a five-pass transmembrane enzyme predominantly localized to the Golgi apparatus, where it catalyzes the transfer of the phosphocholine head group from phosphatidylcholine to ceramide, forming sphingomyelin and diacylglycerol[1][3]. It plays a major role in sphingolipid biosynthesis, influencing membrane structure and cellular signaling processes. SGMS1 expression is especially high in the brain and regulates the relative abundance of sphingomyelin and glucosylceramide, impacting cell proliferation, apoptosis, and disease progression. Altered SGMS1 activity has been implicated in diverse diseases, including melanoma (where downregulation is associated with poor prognosis), Alzheimer’s disease (where upregulation is observed in affected brain regions), and other pathologies connected to sphingolipid metabolism[1][2][4].

Other names

Phosphatidylcholine:ceramide cholinephosphotransferase 1SMS1MOBTMEM23Protein MobMGC17342Medulla oblongata-derived proteinhmob33Transmembrane protein 23phosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived protein

Inhibition of SMS1 reduces sphingomyelin synthesis and may alter ceramide and diacylglycerol signaling, thereby affecting downstream apoptosis and proliferation pathways[4][1].