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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BCAT1-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 29144447
★☆☆☆☆
Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor BEFREE 30310175
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 18577562
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 32694827 Associate
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 28514443
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 18577562 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26783998, 28235484, 28319069
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 35253733 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34440687 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31291585
★☆☆☆☆
Found in Text Mining only