BCAT1 Gene - Branched Chain Amino Acid Transaminase 1
Cytosolic enzyme involved in leucine, isoleucine, and valine metabolism; implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | BCAT1 |
|---|---|
| Full Name | Branched chain amino acid transaminase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 586 ncbi.nlm.nih.gov/gene/586 |
| Ensembl ID | ENSG00000111276 |
| UniProt ID | P54687 |
| OMIM ID | 113520 |
| HGNC ID | HGNC:977 |
| Aliases | BCT1, BCATC, MECA, PP2Calpha, dJ383J4.3 |
Description
BCAT1 (Branched Chain Amino Acid Transaminase 1) encodes a cytosolic enzyme that catalyzes the reversible transamination of branched-chain amino acids (leucine, isoleucine, valine) to their corresponding alpha-keto acids. This gene is highly expressed in the brain and is involved in nitrogen shuttling and glutamate metabolism. BCAT1 is frequently upregulated in glioblastoma and other cancers, where it promotes tumor growth by supporting the TCA cycle and redox balance. Mutations in BCAT1 are associated with hypervalinemia and hyperleucine-isoleucinemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypervalinemia | Deficiency of BCAT1 leads to accumulation of valine due to impaired transamination. | OMIM #277100 |
| Hyperleucine-isoleucinemia | Loss-of-function mutations in BCAT1 cause elevated leucine and isoleucine levels. | OMIM #238340 |
| Glioblastoma | BCAT1 overexpression in IDH1 wild-type glioblastoma promotes alpha-ketoglutarate production and tumor proliferation. | COSMIC; PMID: 24651015 |
| Colorectal cancer | BCAT1 upregulation correlates with poor prognosis and increased branched-chain amino acid catabolism. | COSMIC; PMID: 25378308 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Skeletal muscle | 12.8 | Medium |
| Heart | 8.5 | Medium |
| Liver | 2.1 | Low |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U87MG (glioblastoma) | 78.3 | Overexpressed in IDH1 wild-type lines |
| HEK293 (embryonic kidney) | 15.6 | Basal expression |
| HCT116 (colorectal carcinoma) | 22.1 | Upregulated compared to normal colon |
| MCF7 (breast cancer) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.245G>A (p.Arg82Gln) | Missense | Rare | Impaired enzyme activity; associated with hypervalinemia |
| c.764C>T (p.Pro255Leu) | Missense | Rare | Reduced transaminase activity |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg82Gln and p.Pro255Leu reduce or abolish transaminase activity, leading to branched-chain amino acid accumulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BCAT1.
Dominant Negative (DN)
No dominant-negative mutations described for BCAT1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Branched-chain amino acid degradation (Reactome: R-HSA-70895)
• Valine
• leucine and isoleucine degradation (KEGG: hsa00280)
• Glutamate metabolism (Reactome: R-HSA-210500)
Protein Summary
BCAT1 is a 386-amino acid cytosolic protein (UniProt P54687) that functions as a homodimer. It catalyzes the first step in branched-chain amino acid catabolism, transferring the amino group to alpha-ketoglutarate to form glutamate. The enzyme is highly expressed in brain and muscle, and its dysregulation is linked to cancer metabolism, particularly in glioblastoma where it supports the TCA cycle via alpha-ketoglutarate production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCAT1 Knockout HEK293 Cell Line | EDJ-KQ3038 | Human | 586 | Details Get a Quote |
| BCAT1 Knockout A-549 Cell Line | EDJ-KQ24271 | Human | 586 | Details Get a Quote |
| BCAT1 Knockout HeLa Cell Line | EDJ-KQ24272 | Human | 586 | Details Get a Quote |
| BCAT1 Knockout Hep-G2 Cell Line | EDJ-KZ115 | Human | 586 | Details Get a Quote |
| BCAT1 Knockout Huh-7 Cell Line | EDJ-KZ116 | Human | 586 | Details Get a Quote |
| BCAT1 Knockout HCT 116 Cell Line | EDJ-KQ69670 | Human | 586 | Details Get a Quote |
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