| Gene Information | |
|---|---|
| Gene Name | NAGS |
| Organism | Homo sapiens (Human) |
| Gene Length | 534 |
| Protein Names | N-acetylglutamate synthase, mitochondrial (EC 2.3.1.1) (Amino-acid acetyltransferase) [Cleaved into: N-acetylglutamate synthase long form; N-acetylglutamate synthase short form; N-acetylglutamate synthase conserved domain form] |
| Target Name | n-acetylglutamate synthase, mitochondrial |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000161653 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | Q8N159 |
| Gene Card | NAGS |
| Uniprot ID | Q8N159 |
| Pfam | PF04768 |
| In ASD | yes |
| Allosteric Prediction | yes (0.018388486) |
| Ortholog in Animals | Alpaca_ NAGS ( ortholog_one2one ) Dog_ NAGS ( ortholog_one2one ) GuineaPig_ NAGS ( ortholog_one2one ) Macaque_ NAGS ( ortholog_one2one ) Mouse_ Nags ( ortholog_one2one ) Pig_ NAGS ( ortholog_one2one ) Rat_ Nags ( ortholog_one2one ) Rabbit_ NAGS ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | duodenum, kidney, liver, small.intestine |
| Tissue Specificity | Highly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue. {ECO:0000269|PubMed:12459178, ECO:0000269|PubMed:12754705}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 4K30 (X-ray 2.10A ) |
| DBSNP | rs760267963 rs1188223411 rs1251891037 rs1312599995 rs104894605 rs1204011876 rs104894606 rs752415489 rs745511282 |
| Subcellular location [CC] | Mitochondrion matrix {ECO:0000305|PubMed:7126172}. |
| Mouse PG classification | LPG |
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