Gene Gene information from NCBI Gene database.
Entrez ID 586
Gene name Branched chain amino acid transaminase 1
Gene symbol BCAT1
Synonyms (NCBI Gene)
BCATCBCT1ECA39MECA39PNAS121PP18
Chromosome 12
Chromosome location 12p12.1
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 clin
miRNA miRNA information provided by mirtarbase database.
551
miRTarBase ID miRNA Experiments Reference
MIRT004088 hsa-miR-155-5p Microarray 19193853
MIRT028360 hsa-miR-32-5p Sequencing 20371350
MIRT030880 hsa-miR-21-5p Microarray 18591254
MIRT052384 hsa-let-7a-5p CLASH 23622248
MIRT052293 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 8692959
GO:0003824 Function Catalytic activity IEA
GO:0004084 Function Branched-chain-amino-acid transaminase activity IBA
GO:0004084 Function Branched-chain-amino-acid transaminase activity IEA
GO:0004084 Function Branched-chain-amino-acid transaminase activity TAS 6933702
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
113520 976 ENSG00000060982
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54687
Protein name Branched-chain-amino-acid aminotransferase, cytosolic (BCAT(c)) (EC 2.6.1.42)
Protein function Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
PDB 2ABJ , 2COG , 2COI , 2COJ , 7NTR , 7NWA , 7NWB , 7NWC , 7NWE , 7NWM , 7NXN , 7NXO , 7NY2 , 7NY9 , 7NYA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01063 Aminotran_4 93 343 Amino-transferase class IV Domain
Tissue specificity TISSUE SPECIFICITY: During embryogenesis, expressed in the brain and kidney. Overexpressed in MYC-induced tumors such as Burkitt's lymphoma. {ECO:0000269|PubMed:8692959}.
Sequence
Sequence length 386
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
Valine, leucine and isoleucine degradation
Valine, leucine and isoleucine biosynthesis
Pantothenate and CoA biosynthesis
Metabolic pathways
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
Biosynthesis of cofactors
  Branched-chain amino acid catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BCAT1-related disorder Likely benign; Benign rs144632372, rs17374285, rs2291894, rs756053143, rs568168618, rs117200620 RCV003909312
RCV003974531
RCV003979641
RCV003939296
RCV003949501
RCV003976546
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 28947923
Adenocarcinoma Associate 38644767
Albuminuria Associate 26776194
Anemia Diamond Blackfan Associate 24463277
Anophthalmia with pulmonary hypoplasia Associate 32694827
Brain Neoplasms Associate 18577562
Breast Neoplasms Associate 35253733
Calcinosis Cutis Associate 18577562
Carcinoma Hepatocellular Associate 34440687
Cholangiocarcinoma Associate 37076565