NAGS Gene Summary [Human]
The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NAGS |
| Official Name | N-acetylglutamate synthase [Source:HGNC Symbol;Acc:HGNC:17996] |
| Ensembl ID | ENSG00000161653 |
| Bio databases IDs | |
| Aliases | N-acetylglutamate synthase |
| Synonyms | 1700120E20Rik, AGAS, AI415708, ARGA, N-acetylglutamate synthase, RGD1565783 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NAGS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- amino-acid N-acetyltransferase
- enzyme
- DUF619-like
- AAK
- Amino acid kinase family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung squamous cell carcinoma
- diabetes mellitus
- glioblastoma cancer
- glioma formation
- hyperammonemia type III
- hereditary disorder
- glioblastoma
- organismal death
- squamous cell lung cancer
- gastric adenocarcinoma
regulates
- acetyl-coenzyme A
- L-glutamic acid
- PGAM5
role in cell
- molecular cleavage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NAGS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glutamate metabolic process
- arginine biosynthetic process
- urea cycle
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- acetyl-CoA:L-glutamate N-acetyltransferase activity