KYAT1 Gene (Kynurenine Aminotransferase 1)
Gene encoding a key enzyme in tryptophan metabolism and kynurenine pathway
Gene Information Card
| Symbol | KYAT1 |
|---|---|
| Full Name | Kynurenine Aminotransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 883 ncbi.nlm.nih.gov/gene/883 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q16773 |
| OMIM ID | 600619 |
| HGNC ID | 6467 |
| Aliases | CCBL1, KATI, KAT1, GTK |
Description
KYAT1 encodes kynurenine aminotransferase 1, a pyridoxal phosphate-dependent enzyme that catalyzes the transamination of kynurenine to kynurenic acid, a neuroactive metabolite. It also has cysteine S-conjugate beta-lyase activity and is involved in tryptophan catabolism. The gene is located on chromosome 9q34.11 and is expressed in multiple tissues, particularly liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
| Lung | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Liver cancer cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| SH-SY5Y | 3.9 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.0001 (gnomAD) | Unknown functional effect |
| c.124G>A (p.Gly42Ser) | Missense | 0.0002 (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Tryptophan metabolism (KEGG: hsa00380)
• Kynurenine pathway (Reactome: R-HSA-71240)
Protein Summary
KYAT1 encodes a 45.5 kDa protein (425 amino acids) that functions as a homodimer. It catalyzes the conversion of kynurenine to kynurenic acid, a neuroprotective metabolite that antagonizes NMDA and alpha7 nicotinic acetylcholine receptors. The enzyme also exhibits cysteine S-conjugate beta-lyase activity, which may be involved in detoxification of halogenated xenobiotics. Subcellular localization is primarily cytosolic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KYAT1 Knockout HEK293 Cell Line | EDJ-KQ50175 | Human | 883 | Details Get a Quote |
| KYAT1 Knockout HeLa Cell Line | EDJ-KQ52800 | Human | 883 | Details Get a Quote |
| KYAT1 Knockout A-549 Cell Line | EDJ-KQ61271 | Human | 883 | Details Get a Quote |
| KYAT1 Knockout HCT 116 Cell Line | EDJ-KQ69766 | Human | 883 | Details Get a Quote |
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