KYAT3 Gene: Kynurenine Aminotransferase 3
Comprehensive genomic and functional analysis of KYAT3, a key enzyme in tryptophan metabolism.
Gene Information Card
| Symbol | KYAT3 |
|---|---|
| Full Name | Kynurenine Aminotransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 64834 ncbi.nlm.nih.gov/gene/64834 |
| Ensembl ID | ENSG00000116251 |
| UniProt ID | Q6YP21 |
| OMIM ID | 616156 |
| HGNC ID | 24283 |
| Aliases | CCBL2, KAT3, KATIII |
Description
KYAT3 (kynurenine aminotransferase 3) encodes a pyridoxal phosphate-dependent enzyme that catalyzes the transamination of kynurenine to kynurenic acid, a neuroactive metabolite. It is involved in tryptophan catabolism and may play a role in glutamine metabolism. The gene is located on chromosome 1p13.3 and is expressed in multiple tissues, including the brain and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered kynurenic acid levels due to KYAT3 activity may affect NMDA receptor function. | PMID: 25642756 |
| Huntington Disease | Increased KYAT3 expression and kynurenic acid production observed in striatal models. | PMID: 20628055 |
| Major Depressive Disorder | Dysregulation of kynurenine pathway metabolites linked to KYAT3 activity. | PMID: 29703641 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 5.1 | Low |
| Testis | 4.2 | Low |
| Lung | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in recombinant systems |
| SH-SY5Y | 6.4 | Neuronal cell line |
| HepG2 | 9.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Reduced enzyme activity in vitro |
| c.124G>A (p.Gly42Ser) | Missense | Rare | Unknown functional effect |
| c.1465_1466del (p.Leu489fs) | Frameshift | Very rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu489fs) are predicted to cause loss of enzyme function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KYAT3.
Dominant Negative (DN)
No dominant-negative mutations have been described for KYAT3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Kynurenine pathway (Reactome: R-HSA-71240)
• Tryptophan metabolism (KEGG: map00380)
Protein Summary
KYAT3 encodes a 454-amino acid protein (UniProt Q6YP21) belonging to the class I pyridoxal phosphate-dependent aminotransferase family. The enzyme catalyzes the irreversible transamination of kynurenine to kynurenic acid, a metabolite that modulates glutamatergic neurotransmission. It also exhibits glutamine transaminase activity. The protein is localized in the cytoplasm and is highly expressed in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KYAT3 Knockout HEK293 Cell Line | EDJ-KQ14020 | Human | 56267 | Details Get a Quote |
| KYAT3 Knockout A-549 Cell Line | EDJ-KQ43923 | Human | 56267 | Details Get a Quote |
| KYAT3 Knockout HCT 116 Cell Line | EDJ-KQ43924 | Human | 56267 | Details Get a Quote |
| KYAT3 Knockout HeLa Cell Line | EDJ-KQ42673 | Human | 56267 | Details Get a Quote |
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