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Description for Protein BCAT1

branched chain amino-acid transaminase 1, cytosolic
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.6.1.42
KEGG - Orthology:
K00826
KEGG - Pathway(s):
hsa00280; hsa00290; hsa00770; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
MECA39; ECA39; Branched Chain Aminotransferase 1
Approved Symbol:
BCAT1
(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):

  • L-Glutamic Acid(db);
  • L-Isoleucine(db);
  • L-Leucine(db);
  • L-Valine(db);
  • N'-(5-CHLOROBENZOFURAN-2-CARBONYL)-2-(TRIFLUOROMETHYL)BENZENESULFONOHYDRAZIDE(db);
  • Pyridoxal Phosphate(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00216 Entrez Gene ID: 586 OMIM ID: 113520 Swissprot Accession: B3KY27; P54687;