Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
586
Gene name Gene Name - the full gene name approved by the HGNC.
Branched chain amino acid transaminase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCAT1
Synonyms (NCBI Gene) Gene synonyms aliases
BCATC, BCT1, ECA39, MECA39, PNAS121, PP18
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 8692959
GO:0004084 Function Branched-chain-amino-acid transaminase activity IBA 21873635
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0009082 Process Branched-chain amino acid biosynthetic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
113520 976 ENSG00000060982
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
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