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Description for Protein ABAT

4-aminobutyrate aminotransferase
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 1)
Summary:
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.6.1.19; 2.6.1.22
    KEGG - Orthology:
    K13524
    KEGG - Pathway(s):
    hsa00250; hsa00280; hsa00410; hsa00640; hsa00650; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    4-aminobutyrate aminotransferase; GABA transaminase; GABA aminotransferase; EC 2.6.1.19; EC 2.6.1.22
    Approved Symbol:
    ABAT
    (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):

  • (4e)-4-Aminohex-4-Enoic Acid(db);
  • 4-Amino Hexanoic Acid(db);
  • Acetate Ion(db);
  • Divalproex sodium(db);
  • L-Alanine(db);
  • L-Glutamic Acid(db);
  • Phenelzine(db);
  • Pyridoxal Phosphate(db);
  • Pyruvic acid(db);
  • Valproic Acid(db);
  • Vigabatrin(db)

    Associated Genetic Diseases:

  • GABA-transaminase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00661 Entrez Gene ID: 18 OMIM ID: 137150 Swissprot Accession: P80404;