SMPD1
Sphingomyelin phosphodiesterase
Protein Summary
Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. 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. 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]
- ENST00000342245
- ENSP00000340409
- ENSG00000166311
- ENST00000527275
- ENSP00000435350
- ASM
- ASM
- NPD
- ASMASE
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
cellular component | 0.92 | ||
biological process | 0.91 | ||
disease perturbation | 0.87 | ||
histone modification site profile | 0.82 | ||
protein domain | 0.73 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 670.42 (req: < 5)
Gene RIFs: 134 (req: <= 3)
Antibodies: 266 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 670.42 (req: >= 5)
Gene RIFs: 134 (req: > 3)
Antibodies: 266 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 16
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 14
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0