NAGS (N-acetylglutamate synthase)

Gene

• Entrez ID: 162417
• Gene name: N-acetylglutamate synthase
• Gene symbol: NAGS
• Synonyms: 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 cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]

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
MIRT626557	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT626558	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT626559	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626560	hsa-miR-548c-3p	HITS-CLIP	23824327

Gene ontology (GO)

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

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.
• 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

• Sequence:

  MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTSPGRRLSTAWSQPQPPP
  EEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRSLVQRDIQAFLNQCGASPGEA
  RHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFALAFLQRMDMKPLVVLGLPAP
  TAPSGCLSFWEAKAQLAKSCKVLVDALRHNAAAAVPFFGGGSVLRAAEPAPHASYGGIVS
  VETDLLQWCLESGSIPILCPIGETAARRSVLLDSLEVTASLAKALRPTKIIFLNNTGGLR
  DSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMRLIVDVLSRLPHHSSAVITAASTLLTE
  LFSNKGSGTLFKNAERMLRVRSLDKLDQGRLVDLVNASFGKKLRDDYLASLRPRLHSIYV
  SEGYNAAAILTMEPVLGGTPYLDKFVVSSSRQGQGSGQMLWECLRRDLQTLFWRSRVTNP
  INPWYFKHSDGSFSNKQWIFFWFGLADIRDSYELVNHAKGLPDSFHKPASDPGS

• Sequence length: 534