Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	162417
Gene name	N-acetylglutamate synthase
Gene symbol	NAGS
Synonyms (NCBI Gene)	AGASARGA
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

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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

Show/Hide all (13)

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

Show/Hide all (21)

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

MIM	HGNC	e!Ensembl
608300	17996	ENSG00000161653

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

Interactions

View interactions

	KEGG		Reactome
	Arginine biosynthesis Metabolic pathways 2-Oxocarboxylic acid metabolism Biosynthesis of amino acids		Urea cycle

591

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperammonemia, type III	Likely pathogenic; Pathogenic	rs2143989504, rs2143991359, rs2049060332, rs2143978628, rs748875458, rs2049086224, rs2143971140, rs886507459, rs2143978844, rs1597866458, rs2143989730, rs764150659, rs2143978561, rs2143980093, rs1319006991 View all (68 more)	RCV001376997 RCV001377143 RCV001383088 RCV001381318 RCV001381890 RCV001382749 RCV001533007 RCV001533009 RCV001877136 RCV001888857 RCV002018258 RCV001908739 RCV001953822 RCV001943651 RCV002029168 RCV002000232 RCV001870907 RCV001879478 RCV001909237 RCV001881145 RCV001958340 RCV001956972 RCV000002529 RCV000002530 RCV000002531 RCV000002532 RCV000002533 RCV000002534 RCV000002535 RCV000002536 RCV002584034 RCV002635867 RCV003033257 RCV003062094 RCV003135320 RCV003130985 RCV001859597 RCV003463080 RCV003470283 RCV003470284 RCV003463081 RCV003470285 RCV003463082 RCV003470286 RCV003463083 RCV003463084 RCV003470287 RCV003463085 RCV003470288 RCV003463086 RCV003463087 RCV003463088 RCV003463089 RCV003463090 RCV003463091 RCV003463092 RCV003463093 RCV003470289 RCV003463094 RCV003499054 RCV003499023 RCV003499821 RCV003499932 RCV003604274 RCV003604703 RCV003604886 RCV003605003 RCV003605077 RCV003602573 RCV003817383 RCV004576289 RCV004576290 RCV004576291 RCV004576293 RCV004576294 RCV001851259 RCV000634851 RCV000721983 RCV000801820 RCV003467539 RCV003497913 RCV001055663 RCV001197995 RCV001224354 RCV001217078 RCV001230957 RCV001230958 RCV001246639

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Esophageal atresia	Uncertain significance	rs1272126077	RCV000984755
NAGS-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs569174201, rs2049122937, rs1218806474, rs201629145, rs185863881, rs139907815, rs147700427, rs202041339	RCV004754312 RCV003406195 RCV003394349 RCV003969918 RCV004754422 RCV003902590 RCV003972629 RCV003965571
Pyloric stenosis	Uncertain significance	rs1272126077	RCV000984755

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

NAGS (N-acetylglutamate synthase)