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Aliases for NAGS Gene

Aliases for NAGS Gene

  • N-Acetylglutamate Synthase 2 3
  • Amino-Acid Acetyltransferase 3 4
  • EC 4
  • AGAS 3
  • ARGA 3

External Ids for NAGS Gene

Previous GeneCards Identifiers for NAGS Gene

  • GC17P041823
  • GC17P044259
  • GC17P042092
  • GC17P042557
  • GC17P039437
  • GC17P037846
  • GC17P042082

Summaries for NAGS Gene

Entrez Gene Summary for NAGS 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 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]

GeneCards Summary for NAGS Gene

NAGS (N-Acetylglutamate Synthase) is a Protein Coding gene. Diseases associated with NAGS include n-acetylglutamate synthase deficiency and carbamoylphosphate synthetase i deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include transferase activity and acetyl-CoA:L-glutamate N-acetyltransferase activity.

UniProtKB/Swiss-Prot for NAGS Gene

  • Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGS Gene

Genomics for NAGS Gene

Regulatory Elements for NAGS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NAGS Gene

44,004,546 bp from pter
44,009,068 bp from pter
4,523 bases
Plus strand

Genomic View for NAGS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NAGS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAGS Gene

Proteins for NAGS Gene

  • Protein details for NAGS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    N-acetylglutamate synthase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RAZ9
    • Q8IWR4

    Protein attributes for NAGS Gene

    534 amino acids
    Molecular mass:
    58156 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for NAGS Gene

neXtProt entry for NAGS Gene

Proteomics data for NAGS Gene at MOPED

Post-translational modifications for NAGS Gene

  • Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAGS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NAGS Gene

Domains & Families for NAGS Gene

Gene Families for NAGS Gene

Suggested Antigen Peptide Sequences for NAGS Gene

Graphical View of Domain Structure for InterPro Entry



  • The Amino-acid kinase domain (AAK) mediates binding of the allosteric activator L-arginine
  • Belongs to the acetyltransferase family.
  • The Amino-acid kinase domain (AAK) mediates binding of the allosteric activator L-arginine
  • Contains 1 N-acetyltransferase domain.
  • Belongs to the acetyltransferase family.
genes like me logo Genes that share domains with NAGS: view

Function for NAGS Gene

Molecular function for NAGS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + L-glutamate = CoA + N-acetyl-L-glutamate
UniProtKB/Swiss-Prot EnzymeRegulation:
Increased by L-arginine.
UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity

Enzyme Numbers (IUBMB) for NAGS Gene

Gene Ontology (GO) - Molecular Function for NAGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003991 NOT acetylglutamate kinase activity IBA --
GO:0004042 acetyl-CoA:L-glutamate N-acetyltransferase activity TAS 21757002
GO:0008080 N-acetyltransferase activity --
GO:0016740 transferase activity --
GO:0034618 arginine binding IBA --
genes like me logo Genes that share ontologies with NAGS: view
genes like me logo Genes that share phenotypes with NAGS: view

Animal Models for NAGS Gene

MGI Knock Outs for NAGS:
  • Nags tm1(KOMP)Vlcg

Animal Model Products

miRNA for NAGS Gene

No data available for Transcription Factor Targets and HOMER Transcription for NAGS Gene

Localization for NAGS Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGS Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for NAGS Gene COMPARTMENTS Subcellular localization image for NAGS gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for NAGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NAGS: view

Pathways & Interactions for NAGS Gene

genes like me logo Genes that share pathways with NAGS: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q8N159-NAGS_HUMAN

  • Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; N(2)-acetyl-L-ornithine from L-glutamate: step 1/4

Gene Ontology (GO) - Biological Process for NAGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle TAS --
GO:0006526 arginine biosynthetic process IEA --
GO:0006536 glutamate metabolic process TAS 21757002
GO:0006595 polyamine metabolic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with NAGS: view

No data available for SIGNOR curated interactions for NAGS Gene

Drugs & Compounds for NAGS Gene

(11) Drugs for NAGS Gene - From: HMDB, NovoSeek, PharmGKB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carglumic acid Approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 51
Ornithine Approved Nutra Full agonist, Agonist 31
N-Acetylalanine Experimental Pharma 0
N-Acetyl-L-Glutamate Experimental Pharma 0

(7) Additional Compounds for NAGS Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
Carbamoyl phosphate
  • Carbamic acid monoanhydride with phosphorate
  • Carbamic acid monoanhydride with phosphoric acid
  • Carbamoyl-P
  • Carbamoyl-phosphate
  • Carbamoylphosphate
genes like me logo Genes that share compounds with NAGS: view

Transcripts for NAGS Gene

Unigene Clusters for NAGS Gene

N-acetylglutamate synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NAGS Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: -
SP2: - -

Relevant External Links for NAGS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NAGS Gene

mRNA expression in normal human tissues for NAGS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAGS Gene

This gene is overexpressed in Liver (x20.8).

Protein differential expression in normal tissues from HIPED for NAGS Gene

This gene is overexpressed in Liver (47.6) and Gallbladder (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NAGS Gene

SOURCE GeneReport for Unigene cluster for NAGS Gene Hs.8876

mRNA Expression by UniProt/SwissProt for NAGS Gene

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.
genes like me logo Genes that share expression patterns with NAGS: view

Protein tissue co-expression partners for NAGS Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for NAGS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NAGS Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia NAGS 35
  • 86.64 (n)
  • 87.08 (a)
  • 87 (a)
(Canis familiaris)
Mammalia NAGS 35
  • 87.27 (n)
  • 88.2 (a)
  • 88 (a)
(Mus musculus)
Mammalia Nags 35
  • 84.1 (n)
  • 88.13 (a)
Nags 16
Nags 36
  • 87 (a)
(Pan troglodytes)
Mammalia NAGS 35
  • 99.75 (n)
  • 99.81 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Nags 35
  • 84.44 (n)
  • 88.33 (a)
(Monodelphis domestica)
Mammalia NAGS 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia NAGS 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nags 35
  • 63.9 (n)
  • 65.02 (a)
(Danio rerio)
Actinopterygii LOC557716 35
  • 58.63 (n)
  • 54.1 (a)
nags 36
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL062W 35
  • 40.18 (n)
  • 27.32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG5,6 36
  • 14 (a)
ARG5,6 38
Species with no ortholog for NAGS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAGS Gene

Gene Tree for NAGS (if available)
Gene Tree for NAGS (if available)

Paralogs for NAGS Gene

No data available for Paralogs for NAGS Gene

Variants for NAGS Gene

Sequence variations from dbSNP and Humsavar for NAGS Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
VAR_023505 N-acetylglutamate synthase deficiency (NAGSD)
VAR_023506 N-acetylglutamate synthase deficiency (NAGSD)
VAR_023507 N-acetylglutamate synthase deficiency (NAGSD)
VAR_023508 N-acetylglutamate synthase deficiency (NAGSD)
VAR_023509 N-acetylglutamate synthase deficiency (NAGSD)

Structural Variations from Database of Genomic Variants (DGV) for NAGS Gene

Variant ID Type Subtype PubMed ID
nsv833454 CNV Loss 17160897

Variation tolerance for NAGS Gene

Residual Variation Intolerance Score: 29.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAGS Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAGS Gene

Disorders for NAGS Gene

MalaCards: The human disease database

(6) MalaCards diseases for NAGS Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
n-acetylglutamate synthase deficiency
  • n-acetylglutamate synthase
carbamoylphosphate synthetase i deficiency
  • carbamoyl phosphate synthetase i deficiency disease
granulomatous angiitis
  • vasculitis, central nervous system
urea cycle disorder
  • urea cycle defect
- elite association
Search NAGS in MalaCards View complete list of genes associated with diseases


  • N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]: Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. {ECO:0000269 PubMed:12754705, ECO:0000269 PubMed:15878741}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NAGS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NAGS: view

No data available for Genatlas for NAGS Gene

Publications for NAGS Gene

  1. Surprising arginine biosynthesis: a reappraisal of the enzymology and evolution of the pathway in microorganisms. (PMID: 17347518) Xu Y. … Glansdorff N. (Microbiol. Mol. Biol. Rev. 2007) 23 25 26 67
  2. Mammalian N-acetylglutamate synthase. (PMID: 15050968) Morizono H. … Tuchman M. (Mol. Genet. Metab. 2004) 2 23 67
  3. Cloning and expression of the human N-acetylglutamate synthase gene. (PMID: 12459178) Caldovic L. … Tuchman M. (Biochem. Biophys. Res. Commun. 2002) 2 23 67
  4. Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (PMID: 19533169) Gessler P. … Wermuth B. (Eur. J. Pediatr. 2010) 23 67
  5. Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. (PMID: 18666241) Mitchell S. … Summar M. (Hum. Mutat. 2009) 23 67

Products for NAGS Gene

Sources for NAGS Gene

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