NAGS (N-acetylglutamate synthase)

Gene

• Entrez ID: 162417
• Gene name: N-acetylglutamate synthase
• Gene symbol: NAGS
• Synonyms (NCBI Gene): AGAS, ARGA
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: 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 cycl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894604	G>A	Pathogenic	Stop gained, coding sequence variant
rs104894605	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894606	T>C,G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894607	G>A,C	Pathogenic	Synonymous variant, intron variant, missense variant, coding sequence variant
rs202041339	T>C	Likely-pathogenic	Splice donor variant
rs730880266	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880267	A>T	Pathogenic	Splice acceptor variant
rs730880303	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs886042831	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, intron variant, stop gained
rs1064793209	C>G	Likely-pathogenic	Intron variant
rs1597866317	G>A	Likely-pathogenic	Splice donor variant
rs1597866458	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT626560	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT626559	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626558	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT626557	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT626560	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT626559	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626558	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT626557	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT1173081	hsa-miR-3127-3p	CLIP-seq
MIRT1173082	hsa-miR-3157-5p	CLIP-seq
MIRT1173083	hsa-miR-3943	CLIP-seq
MIRT1173084	hsa-miR-4313	CLIP-seq
MIRT2050130	hsa-miR-4487	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	TAS
GO:0004042	Function	L-glutamate N-acetyltransferase activity	EXP	12459178, 15050968
GO:0004042	Function	L-glutamate N-acetyltransferase activity	IBA
GO:0004042	Function	L-glutamate N-acetyltransferase activity	IDA	7126172, 23894642
GO:0004042	Function	L-glutamate N-acetyltransferase activity	IEA
GO:0004042	Function	L-glutamate N-acetyltransferase activity	TAS	21757002
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	7126172
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006526	Process	L-arginine biosynthetic process	IBA
GO:0006526	Process	L-arginine biosynthetic process	IEA
GO:0006536	Process	Glutamate metabolic process	IBA
GO:0006536	Process	Glutamate metabolic process	IEA
GO:0006536	Process	Glutamate metabolic process	TAS	21757002
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA

Other IDs

• MIM: 608300
• HGNC: 17996
• e!Ensembl: ENSG00000161653

Protein

• UniProt ID: Q8N159
• Protein name: 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]
• Protein function: Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity. {ECO:0000269|PubMed:12459178, ECO:0000269|PubMed:23894642, ECO:0000269|PubM
• PDB: 4K30
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04768	NAT	356 → 521	NAT, N-acetyltransferase, of N-acetylglutamate synthase	Family

• Tissue specificity: 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}.
• Sequence:

  MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTSPGRRLSTAWSQPQPPP
  EEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRSLVQRDIQAFLNQCGASPGEA
  RHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFALAFLQRMDMKPLVVLGLPAP
  TAPSGCLSFWEAKAQLAKSCKVLVDALRHNAAAAVPFFGGGSVLRAAEPAPHASYGGIVS
  VETDLLQWCLESGSIPILCPIGETAARRSVLLDSLEVTASLAKALRPTKIIFLNNTGGLR
  DSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMRLIVDVLSRLPHHSSAVITAASTLLTE
  LFSNKGSGTLFKNAERMLRVRSLDKLDQGRLVDLVNASFGKKLRDDYLASLRPRLHSIYV
  SEGYNAAAILTMEPVLGGTPYLDKFVVSSSRQGQGSGQMLWECLRRDLQTLFWRSRVTNP
  INPWYFKHSDGSFSNKQWIFFWFGLADIRDSYELVNHAKGLPDSFHKPASDPGS

• Sequence length: 534

<

Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Hyperammonemia	hyperammonemia, type iii	rs104894607, rs886042831, rs762205848, rs755257734, rs730880266, rs1567941557, rs104894604, rs1597866317, rs730880267, rs1282296585, rs730880303, rs1597866458, rs121912591, rs2049059647, rs104894605, rs104894606	N/A

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	37047726
Diabetic Foot	Associate	38287255
Glioblastoma	Associate	37047726
Glioma	Associate	37047726
Hyperammonemia	Associate	21681857, 30337552
Liver Diseases	Associate	39868884
Lung Neoplasms	Associate	37047726
N acetyl glutamate synthetase deficiency	Inhibit	15878741, 34510628
N acetyl glutamate synthetase deficiency	Associate	15878741, 30337552, 34510628
Neoplasms	Associate	37047726
Ophthalmoplegia painful	Associate	38233749
Squamous Cell Carcinoma of Head and Neck	Associate	31391008
Stomach Neoplasms	Stimulate	37047726
Uniparental Disomy	Associate	30337552
Urea Cycle Disorders Inborn	Associate	21068339, 34510628