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Tchem
SMPD1
Sphingomyelin phosphodiesterase

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000342245
  • ENSP00000340409
  • ENSG00000166311
  • ENST00000527275
  • ENSP00000435350

Symbol
  • ASM
  • ASM
  • NPD
  • ASMASE
Illumination Graph
Knowledge Table
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


IDG Development Level Summary
Tdark

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: 105   (req: <= 3)
Antibodies: 266   (req: <= 50)
Tbio

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: 105   (req: > 3)
Antibodies: 266   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 14
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0