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Description for Protein ASAH1

N-acylsphingosine amidohydrolase (acid ceramidase) 1
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(alpha granules: 1; platelet: 5)
Summary:
This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.5.1.23
    KEGG - Orthology:
    K12348
    KEGG - Pathway(s):
    hsa00600; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    N-acylsphingosine amidohydrolase; ASAH; AC; Acylsphingosine deacylase; PHP32; EC 3.5.1.23; FLJ21558; FLJ22079; N-acylsphingosine amidohydrolase acid ceramidase 1 preproprotein isoform a; N-acylsphingosine amidohydrolase acid ceramidase 1 isoform b
    Approved Symbol:
    ASAH1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

    None Available

    Associated Genetic Diseases:

  • Farber lipogranulomatosis(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01969 Entrez Gene ID: 427 OMIM ID: 228000 Swissprot Accession: A8K0B6; Q13510; Q53H01;