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Aliases for NAGS Gene

Aliases for NAGS Gene

  • N-Acetylglutamate Synthase 2 3 5
  • Amino-Acid Acetyltransferase 3 4
  • N-Acetylglutamate Synthase, Mitochondrial 3
  • EC 2.3.1.1 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 Aspartylglucosaminuria. Among its related pathways are Metabolism and Arginine biosynthesis. 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

Enhancers for NAGS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F044101 1.4 Ensembl ENCODE 20.6 +103.1 103109 12.5 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 ASB16-AS1 DHX8 HMGN1P29 LINC00910 ASB16 NAGS G6PC3 C17orf53 ENSG00000267002 ENSG00000267340
GH17F044094 1.7 FANTOM5 Ensembl ENCODE 10.6 +92.4 92355 4.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF263 SP3 SP5 ASB16 G6PC3 TMEM101 ASB16-AS1 LSM12 RNU6-131P C17orf53 HDAC5 ENSG00000221044 PYY
GH17F043999 1.3 Ensembl ENCODE 12.7 -3.0 -3045 3.2 ATF1 MLX ARID4B YY1 SLC30A9 GATA2 PAF1 NFYC MIER2 REST NAGS TMEM101 GC17P043983
GH17F044076 1.3 Ensembl ENCODE 11.9 +72.9 72870 1.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 NBR1 ASB16-AS1 NAGS ENSG00000221044 HDAC5 DHX8 G6PC3 RNU6-131P C17orf53 TMUB2
GH17F044013 1.2 ENCODE 11.9 +10.2 10155 1.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ENSG00000267604 RN7SL507P SMCO4P1 LINC01180 RN7SL405P ENSG00000267788 TMEM101 MEOX1 NAGS CD300LG
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NAGS on UCSC Golden Path with GeneCards custom track

Promoters for NAGS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001807399 254 1201 PKNOX1 ZFP64 ARID4B BMI1 ZNF48 SCRT2 MIXL1 PAF1 SP5 TGIF2

Genomic Location for NAGS Gene

Chromosome:
17
Start:
44,004,546 bp from pter
End:
44,009,068 bp from pter
Size:
4,523 bases
Orientation:
Plus strand

Genomic View for NAGS Gene

Genes around NAGS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAGS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q8N159-NAGS_HUMAN
    Recommended name:
    N-acetylglutamate synthase, mitochondrial
    Protein Accession:
    Q8N159
    Secondary Accessions:
    • B2RAZ9
    • Q8IWR4

    Protein attributes for NAGS Gene

    Size:
    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

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

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

Q8N159

UniProtKB/Swiss-Prot:

NAGS_HUMAN :
  • The Amino-acid kinase domain (AAK) mediates binding of the allosteric activator L-arginine.
  • Belongs to the acetyltransferase family.
Domain:
  • The Amino-acid kinase domain (AAK) mediates binding of the allosteric activator L-arginine.
  • Contains 1 N-acetyltransferase domain.
Family:
  • 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:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
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

Human Phenotype Ontology for NAGS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NAGS Gene

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

Animal Model Products

miRNA for NAGS Gene

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAGS gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NAGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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

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
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

(12) Drugs for NAGS Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carglumic acid Approved Pharma 0
Phenylacetic acid Approved Pharma 11
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 322
Famotidine Approved Pharma Histamine H2-receptor antagonist 59
N-Acetylalanine Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
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:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: -
SP2: - -
SP3:

Relevant External Links for NAGS Gene

GeneLoc Exon Structure for
NAGS
ECgene alternative splicing isoforms for
NAGS

Expression for NAGS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for NAGS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAGS Gene:

NAGS

SOURCE GeneReport for Unigene cluster for NAGS Gene:

Hs.8876

mRNA Expression by UniProt/SwissProt for NAGS Gene:

Q8N159-NAGS_HUMAN
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia NAGS 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia NAGS 34 35
  • 87.27 (n)
cow
(Bos Taurus)
Mammalia NAGS 34 35
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Nags 34
  • 84.44 (n)
mouse
(Mus musculus)
Mammalia Nags 34 16 35
  • 84.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NAGS 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAGS 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nags 34
  • 63.9 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC557716 34
  • 58.63 (n)
nags 35
  • 45 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL062W 34
  • 40.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG5,6 35 37
  • 14 (a)
OneToOne
Species where no ortholog for NAGS was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for NAGS (if available)
TreeFam:
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
rs104894605 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310], Pathogenic 44,007,611(+) CATTC(C/T)GACCA intron-variant, reference, missense
rs104894606 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310], Pathogenic 44,007,772(+) ATCCC(C/G/T)GGTAG intron-variant, reference, missense
rs745511282 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] 44,008,548(+) ACCAC(A/G)CCAAG intron-variant, reference, missense
VAR_023505 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
VAR_023506 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]

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

Variant ID Type Subtype PubMed ID
nsv833454 CNV loss 17160897
nsv1146669 OTHER inversion 26484159

Variation tolerance for NAGS Gene

Residual Variation Intolerance Score: 29.2% 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

Human Gene Mutation Database (HGMD)
NAGS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAGS

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

Disorders for NAGS Gene

MalaCards: The human disease database

(9) MalaCards diseases for NAGS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
n-acetylglutamate synthase deficiency
  • n-acetylglutamate synthetase deficiency
aspartylglucosaminuria
  • aspartylglucosaminidase deficiency
hyperammonemia
inherited metabolic disorder
  • inborn errors of metabolism
urea cycle disorder
  • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
- elite association - COSMIC cancer census association via MalaCards
Search NAGS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

No data available for Genatlas for NAGS Gene

Publications for NAGS Gene

  1. Cloning and expression of the human N-acetylglutamate synthase gene. (PMID: 12459178) Caldovic L. … Tuchman M. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 22 64
  2. Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. (PMID: 15878741) Schmidt E. … Koch H.G. (Biochim. Biophys. Acta 2005) 3 4 22 64
  3. Mammalian N-acetylglutamate synthase. (PMID: 15050968) Morizono H. … Tuchman M. (Mol. Genet. Metab. 2004) 2 3 22 64
  4. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. (PMID: 12594532) Caldovic L. … Tuchman M. (Hum. Genet. 2003) 3 22 46 64
  5. Mutation analysis in patients with N-acetylglutamate synthase deficiency. (PMID: 12754705) Haeberle J. … Koch H.G. (Hum. Mutat. 2003) 3 4 22 64

Products for NAGS Gene

Sources for NAGS Gene

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