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Description for Protein OAT

ornithine aminotransferase
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    2.6.1.13
    KEGG - Orthology:
    K00819
    KEGG - Pathway(s):
    hsa00330; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Ornithine aminotransferase like 3; OATL3; Ornithine-oxo-acid aminotransferase
    Approved Symbol:
    OAT
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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):

  • Canaline(db);
  • Gabaculine(db);
  • L-Ornithine(db);
  • Pyridoxal Phosphate(db)


    Associated Genetic Diseases:

  • Gyrate atrophy(Pd);
  • Gyrate atrophy with pyridoxine-responsive ornithinemia(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 02021 Entrez Gene ID: 4942 OMIM ID: 258870 Swissprot Accession: Q68CS0P04181