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Description for Protein SMPD1

sphingomyelin phosphodiesterase 1, acid lysosomal
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • SAPB: Saposin (B) Domains
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.4.12
    KEGG - Orthology:
    K12350
    KEGG - Pathway(s):
    hsa00600; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    acid lysosomal Acid sphingomyelinase; ASM; NPD; EC 3.1.4.12; aSMase; Sphingomyelin phosphodiesterase 1, acid lysosomal isoform 1 precursor; Sphingomyelin phosphodiesterase 1, acid lysosomal isoform 2 precursor; Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
    Approved Symbol:
    SMPD1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Desipramine(db)

    Associated Genetic Diseases:

  • Niemann-Pick disease, intermediate form, with macular halo(Pd);
  • Niemann-Pick disease, type A(Pd);
  • Niemann-Pick disease, type B(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 06353 Entrez Gene ID: 6609 OMIM ID: 607608 Swissprot Accession: P17405; Q8IUN0;