Aliases for SGMS1 Gene
External Ids for SGMS1 Gene
Previous HGNC Symbols for SGMS1 Gene
Previous GeneCards Identifiers for SGMS1 Gene
The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
GeneCards Summary for SGMS1 Gene
SGMS1 (Sphingomyelin Synthase 1) is a Protein Coding gene. Diseases associated with SGMS1 include Aggressive Systemic Mastocytosis. Among its related pathways are Sphingolipid signaling pathway and Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). Gene Ontology (GO) annotations related to this gene include kinase activity and ceramide cholinephosphotransferase activity. An important paralog of this gene is SGMS2.
UniProtKB/Swiss-Prot Summary for SGMS1 Gene
Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide.