Aliases for SMPD1 Gene
External Ids for SMPD1 Gene
Previous GeneCards Identifiers for SMPD1 Gene
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
GeneCards Summary for SMPD1 Gene
SMPD1 (Sphingomyelin Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with SMPD1 include Niemann-Pick Disease, Type B and Niemann-Pick Disease, Type A. Among its related pathways are Sphingolipid metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include hydrolase activity and sphingomyelin phosphodiesterase activity. An important paralog of this gene is SMPDL3A.
UniProtKB/Swiss-Prot Summary for SMPD1 Gene
Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558, PubMed:25339683). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Plays an important role in the export of cholesterol from the intraendolysosomal membranes (PubMed:25339683).
Isoform 2 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.
Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.