GLYAT: Glycine-N-Acyltransferase
Gene encoding a key enzyme in the detoxification of xenobiotics and endogenous acyl-CoA metabolites
Gene Information Card
| Symbol | GLYAT |
|---|---|
| Full Name | Glycine-N-Acyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 10249 ncbi.nlm.nih.gov/gene/10249 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q6IB77 |
| OMIM ID | 607424 |
| HGNC ID | 4316 |
| Aliases | ACGNAT, GAT, CAT, Acyl-CoA:glycine N-acyltransferase |
Description
GLYAT encodes glycine-N-acyltransferase, a mitochondrial enzyme that conjugates glycine with various acyl-CoA substrates, including benzoyl-CoA and salicyl-CoA. This reaction is critical for the detoxification of xenobiotics and the metabolism of endogenous acyl-CoA compounds. The enzyme is primarily expressed in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycine N-acyltransferase deficiency | Impaired detoxification of benzoate and salicylate leading to metabolic acidosis | OMIM #607424; case reports in ClinVar |
| Salicylate poisoning | Reduced conjugation capacity may exacerbate toxicity | Functional studies in liver microsomes (NCBI Gene) |
| Reye syndrome (suspected) | Altered mitochondrial acyl-CoA metabolism | Hypothesized; limited evidence in literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Kidney | 12.3 | Medium |
| Small intestine | 4.1 | Low |
| Colon | 2.8 | Low |
| Pancreas | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line; high expression |
| HEK293 | 3.4 | Embryonic kidney; moderate expression |
| Caco-2 | 1.8 | Colorectal adenocarcinoma; low expression |
| K562 | 0.5 | Leukemia; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; predicted loss of function (ClinVar) |
| c.245C>T (p.Thr82Ile) | Missense | 0.02% | Reduced enzyme activity in vitro (UniProt) |
| c.412G>A (p.Gly138Arg) | Missense | 0.01% | Impaired substrate binding (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? and p.Thr82Ile reduce or abolish enzymatic activity, impairing glycine conjugation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycine conjugation (Reactome: R-HSA-156587)
• Phase II detoxification (KEGG: map00980)
Protein Summary
Glycine-N-acyltransferase (GLYAT) is a 296-amino acid mitochondrial enzyme that catalyzes the conjugation of glycine with acyl-CoA substrates, forming N-acylglycines. This reaction is essential for the detoxification of aromatic acids (e.g., benzoate, salicylate) and the metabolism of endogenous acyl-CoAs. The enzyme is highly expressed in liver and kidney. Genetic variants can lead to reduced activity and impaired detoxification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLYAT Knockout HEK293 Cell Line | EDJ-KQ6974 | Human | 10249 | Details Get a Quote |
| GLYATL2 Knockout HEK293 Cell Line | EDJ-KQ7775 | Human | 219970 | Details Get a Quote |
| GLYATL1 Knockout HEK293 Cell Line | EDJ-KQ10864 | Human | 92292 | Details Get a Quote |
| GLYATL1B Knockout HEK293 Cell Line | EDJ-KQ13612 | Human | 100287520 | Details Get a Quote |
| GLYATL3 Knockout HEK293 Cell Line | EDJ-KQ13613 | Human | 389396 | Details Get a Quote |
| GLYAT Knockout HeLa Cell Line | EDJ-KQ55358 | Human | 10249 | Details Get a Quote |
| GLYATL1 Knockout HeLa Cell Line | EDJ-KQ57834 | Human | 92292 | Details Get a Quote |
| GLYATL2 Knockout HeLa Cell Line | EDJ-KQ59121 | Human | 219970 | Details Get a Quote |
| GLYATL3 Knockout HeLa Cell Line | EDJ-KQ60084 | Human | 389396 | Details Get a Quote |
| GLYAT Knockout A-549 Cell Line | EDJ-KQ63838 | Human | 10249 | Details Get a Quote |
| GLYATL1 Knockout A-549 Cell Line | EDJ-KQ66332 | Human | 92292 | Details Get a Quote |
| GLYATL2 Knockout A-549 Cell Line | EDJ-KQ67595 | Human | 219970 | Details Get a Quote |
| GLYATL3 Knockout A-549 Cell Line | EDJ-KQ68548 | Human | 389396 | Details Get a Quote |
| GLYAT Knockout HCT 116 Cell Line | EDJ-KQ72299 | Human | 10249 | Details Get a Quote |
| GLYATL1 Knockout HCT 116 Cell Line | EDJ-KQ74757 | Human | 92292 | Details Get a Quote |
Displaying Records 1 To 15 Of 17 Records
