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Description for Protein ARSA

arylsulfatase A
4 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(alpha granules: 1; platelet: 6)
Summary:
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.6.8
    KEGG - Orthology:
    K01134
    KEGG - Pathway(s):
    hsa00600; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cerebroside sulfatase; Cerebroside 3- sulfatase; ASA; Arylsulfatase A isoform a; Arylsulfatase A isoform b
    Approved Symbol:
    ARSA
    (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):

  • 2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid(db);
  • N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium(db)

    Associated Genetic Diseases:

  • Arylsulfatase A polymorphism(Pd);
  • Arylsulfatase A pseudodeficiency(Pd);
  • Arylsulfatase A pseudodeficiency, intermediate(Pd);
  • Arylsulfatase A pseudodeficiency, severe(Pd);
  • Arylsulfatase A, allele a(Pd);
  • Metachromatic leukodystrophy(Pd);
  • Metachromatic leukodystrophy, adult(Pd);
  • Metachromatic leukodystrophy, juvenile(Pd);
  • Metachromatic leukodystrophy, late infantile(Pd);
  • Metachromatic leukodystrophy, late-onset(Pd);
  • Metachromatic leukodystrophy, mild(Pd);
  • Metachromatic leukodystrophy, severe(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09617 Entrez Gene ID: 410 OMIM ID: 607574 Swissprot Accession: P15289; C9IYR4;