GLYATL3 Gene
Glycine-N-Acyltransferase Like 3
Gene Information Card
| Symbol | GLYATL3 |
|---|---|
| Full Name | Glycine-N-Acyltransferase Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000188277 |
| UniProt ID | Q5VU57 |
| OMIM ID | 614777 |
| HGNC ID | 33876 |
| Aliases | GLYATL3, glycine-N-acyltransferase-like 3, acyltransferase-like 3 |
Description
GLYATL3 (Glycine-N-Acyltransferase Like 3) is a protein-coding gene located on chromosome 6p12.1. It encodes a member of the glycine-N-acyltransferase family, which catalyzes the conjugation of glycine with various acyl-CoA substrates. The enzyme is involved in the detoxification of endogenous and exogenous acyl compounds. Expression data from GTEx and The Human Protein Atlas indicate highest expression in liver and kidney tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease association | Not established | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 4.1 | Low |
| Adrenal gland | 3.0 | Low |
| Testis | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK 293 | 6.7 | Embryonic kidney |
| Caco-2 | 4.5 | Colorectal adenocarcinoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data:
Gene Ontology (GO)
| • acyltransferase activity (GO:0016746) | • glycine N-acyltransferase activity (GO:0016408) |
| • cytoplasm (GO:0005737) |
Pathways
• Glycine conjugation of acyl-CoAs (Reactome: R-HSA-159424)
Protein Summary
The GLYATL3 protein (UniProt Q5VU57) is a 319-amino acid acyltransferase localized to the cytoplasm. It catalyzes the transfer of an acyl group from acyl-CoA to glycine, producing N-acylglycine and CoA. This reaction is important for the detoxification of xenobiotics and endogenous metabolites. The protein is highly expressed in liver and kidney, consistent with its role in metabolic clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLYATL3 Knockout HEK293 Cell Line | EDJ-KQ13613 | Human | 389396 | Details Get a Quote |
| GLYATL3 Knockout HeLa Cell Line | EDJ-KQ60084 | Human | 389396 | Details Get a Quote |
| GLYATL3 Knockout A-549 Cell Line | EDJ-KQ68548 | Human | 389396 | Details Get a Quote |
| GLYATL3 Knockout HCT 116 Cell Line | EDJ-KQ76923 | Human | 389396 | Details Get a Quote |
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