Gene table of NAGS : N-acetylglutamate synthase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NAGS	OMIM link	Number of associated genes	genes
237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NAGS

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Biosynthesis of amino acids	hsa01230	6.58
Metabolic pathways	hsa01100	2.49
2-Oxocarboxylic acid metabolism	hsa01210	8.68
Arginine and proline metabolism	hsa00330	6.84

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Urea cycle	R-HSA-70635	9.81
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
anion binding	GO:0043168	4.17
arginine binding	GO:0034618	7.79
acetyl-CoA:L-glutamate N-acetyltransferase activity	GO:0004042	9.74
N-acetyltransferase activity	GO:0008080	5.27
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
kinase activity	GO:0016301	2.93
carboxylic acid binding	GO:0031406	4.64
acetyltransferase activity	GO:0016407	5.1
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
transferase activity, transferring acyl groups	GO:0016746	4.2
binding	GO:0005488	0.18
N-acyltransferase activity	GO:0016410	5.08
phosphotransferase activity, carboxyl group as acceptor	GO:0016774	8.35
acetylglutamate kinase activity	GO:0003991	9.74
amino acid binding	GO:0016597	5.71
transferase activity, transferring acyl groups other than amino-acyl groups	GO:0016747	4.37