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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	162417
Gene name Gene Name - the full gene name approved by the HGNC.	N-acetylglutamate synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NAGS
Synonyms (NCBI Gene) Gene synonyms aliases	AGAS, ARGA
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(12)

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(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	TAS
GO:0003991	Function	Acetylglutamate kinase activity	IBA	21873635
GO:0004042	Function	Acetyl-CoA:L-glutamate N-acetyltransferase activity	EXP	12459178, 15050968
GO:0004042	Function	Acetyl-CoA:L-glutamate N-acetyltransferase activity	IBA	21873635
GO:0004042	Function	Acetyl-CoA:L-glutamate N-acetyltransferase activity	IDA	7126172, 23894642
GO:0004042	Function	Acetyl-CoA:L-glutamate N-acetyltransferase activity	TAS	21757002
GO:0005739	Component	Mitochondrion	IDA	7126172
GO:0005759	Component	Mitochondrial matrix	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006526	Process	Arginine biosynthetic process	IBA	21873635
GO:0006526	Process	Arginine biosynthetic process	IEA
GO:0006536	Process	Glutamate metabolic process	IBA	21873635
GO:0006536	Process	Glutamate metabolic process	TAS	21757002
GO:0016310	Process	Phosphorylation	IEA
GO:0034618	Function	Arginine binding	IBA	21873635
GO:0103045	Function	Methione N-acyltransferase activity	IEA

MIM	HGNC	e!Ensembl
608300	17996	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

Interactions

View interactions

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

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Hyperammonemia	Hyperammonemia, type III, Hyperammonemia due to N-acetylglutamate synthase deficiency	rs753751183, rs121912592, rs121912593, rs28940283, rs121912595, rs121912596, rs730880266, rs104894604, rs730880267, rs730880303, rs121912591, rs104894605, rs104894606, rs104894607, rs1559129372 View all (78 more)	27604308, 15878741, 15714518, 12754705, 12594532, 27037498, 5160402, 12447942, 6223815, 22503289
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Polyneuropathy	Polyneuropathy	rs1597597437

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
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)