SGMS1
Description
The SGMS1 (sphingomyelin synthase 1) is a protein-coding gene located on chromosome 10.
SGMS1 (Sphingomyelin Synthase 1) is a gene that encodes an enzyme known as phosphatidylcholine:ceramide cholinephosphotransferase 1. This enzyme is predicted to be a five-pass transmembrane protein and is primarily expressed in the brain. The protein encoded by this gene is involved in the biosynthesis of sphingomyelin, a major component of cell membranes.
SGMS1 is a major sphingomyelin synthase located at the Golgi apparatus. It catalyzes the reversible transfer of the phosphocholine moiety in sphingomyelin biosynthesis. In the forward reaction, it transfers the phosphocholine head group from phosphatidylcholine (PC) to ceramide (CER), forming ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as a byproduct. Conversely, in the reverse reaction, it transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction is influenced by the levels of CER and DAG within Golgi membranes. SGMS1 does not utilize free phosphorylcholine or CDP-choline as a donor. It plays a regulatory role in receptor-mediated signal transduction through the production of mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts involved in signal transduction and protein sorting. SGMS1 also contributes to secretory transport by regulating the DAG pool at the Golgi apparatus and its subsequent effects on PRKD1.
SGMS1 is also known as MOB, MOB1, SMS1, TMEM23, hmob33.
Associated Diseases
- substance abuse
- male infertility with teratozoospermia due to single gene mutation
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- partial chromosome Y deletion
- transient neonatal diabetes mellitus
- hyperinsulinemic hypoglycemia, familial, 2
