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Description for Protein PSAP

prosaposin
13 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/2)
(alpha granules: 1; membrane: 1; platelet: 1; secretome: 3; undefined: 1)
Summary:
This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • SAPB: Saposin (B) Domains
  • SAPA: Saposin/surfactant protein-B A-type DOMAIN
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12382
    KEGG - Pathway(s):
    hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Prosaposin isoform b preproprotein; Prosaposin isoform c preproprotein; Prosaposin isoform a preproprotein; Saposin A; Protein A; Saposin B; Sphingolipid activator protein 1; SAP-1; Cerebroside sulfate activator; Cerebroside sulfatase activator; CSAct; Dispersin; Sulfatide/GM1 activator; Saposin C; Co-beta-glucosidase; A1 activator; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Saposin D; Protein C; Component C
    Approved Symbol:
    PSAP
    (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):

  • Di-Stearoyl-3-Sn-Phosphatidylethanolamine(db)

    Associated Genetic Diseases:

  • Combined SAP deficiency(Pd);
  • Gaucher disease, atypical, due to SAP2 deficiency(Pd);
  • Metachromatic leukodystrophy due to SAP1 deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01460 Entrez Gene ID: 5660 OMIM ID: 176801 Swissprot Accession: P07602; Q53Y86;