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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 Inherited Metabolic Disorder. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Arginine biosynthesis. Gene Ontology (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.

Additional gene information for NAGS Gene

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

Genomics for NAGS Gene

GeneHancer (GH) Regulatory Elements for NAGS Gene

Promoters and enhancers for NAGS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I044003 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 562.6 +1.8 1766 5 HDGF PKNOX1 ZFP64 ARID4B SIN3A YY1 ZNF213 ZNF143 KLF13 PAF1 NAGS PYY G6PC3 TMEM101 PIR35856 GC17P043983
GH17I044101 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 20.6 +103.1 103109 12.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ASB16-AS1 ASB16 NAGS G6PC3 HMGN1P29 LINC00910 C17orf53 ENSG00000267002 DHX8 TMUB2
GH17I044013 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.9 +10.2 10154 1.8 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TMEM101 ASB16-AS1 UBTF HMGN1P29 DHX8 TMUB2 MEOX1 MPP2 LINC00910 NAGS
GH17I044065 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.9 +62.2 62233 2.8 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT SIN3A ZNF2 YY1 SLC30A9 LSM12 ASB16-AS1 ENSG00000267002 UBTF HMGN1P29 ENSG00000267340 DHX8 NAGS TMUB2 GC17P044038
GH17I044094 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +92.4 92357 4.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ASB16 G6PC3 TMEM101 ASB16-AS1 LSM12 RNU6-131P C17orf53 HDAC5 ENSG00000221044 PYY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NAGS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NAGS gene promoter:

Genomic Locations for NAGS Gene

Genomic Locations for NAGS Gene
chr17:44,004,546-44,009,068
(GRCh38/hg38)
Size:
4,523 bases
Orientation:
Plus strand
chr17:42,081,914-42,086,436
(GRCh37/hg19)

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).

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.
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

Phenotypes From GWAS Catalog 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 IEA,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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NAGS Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
Ammonia N-13 Approved Pharma Enzyme, substrate 0
Carglumic acid Approved Pharma 0
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
Famotidine Approved Pharma Histamine H2-receptor antagonist 64

(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:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for NAGS Gene

  • Liver(4.5)
  • Intestine(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NAGS Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • nervous
  • respiratory
Organs:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
  • lung
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with NAGS: view

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 33
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NAGS 33 34
  • 87.27 (n)
cow
(Bos Taurus)
Mammalia NAGS 33 34
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Nags 33
  • 84.44 (n)
mouse
(Mus musculus)
Mammalia Nags 16 34 33
  • 84.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NAGS 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAGS 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nags 33
  • 63.9 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC557716 33
  • 58.63 (n)
nags 34
  • 45 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL062W 33
  • 40.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG5,6 34 36
  • 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 Variation AA Info Type
rs104894604 pathogenic, Hyperammonemia, type III 44,006,584(+) G/A coding_sequence_variant, stop_gained
rs104894605 pathogenic, Hyperammonemia, type III, N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] 44,007,611(+) T/C coding_sequence_variant, intron_variant, missense_variant
rs104894606 pathogenic, Hyperammonemia, type III, N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] 44,007,772(+) T/C/G coding_sequence_variant, intron_variant, missense_variant
rs104894607 pathogenic, Hyperammonemia, type III 44,007,621(+) G/A/C coding_sequence_variant, intron_variant, missense_variant, synonymous_variant
rs113134544 likely-benign, benign, not specified, Hyperammonemia, type III, not provided 44,004,845(+) A/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
n-acetylglutamate synthase deficiency
  • nagsd
inherited metabolic disorder
  • inborn errors of metabolism
urea cycle disorder
  • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
carbonic anhydrase va deficiency, hyperammonemia due to
  • ca5ad
granulomatous angiitis
  • vasculitis, central nervous system
- 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, ECO:0000269 PubMed:27037498}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NAGS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Cloning and expression of the human N-acetylglutamate synthase gene. (PMID: 12459178) Caldovic L … Tuchman M (Biochemical and biophysical research communications 2002) 2 3 4 22 58
  2. Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. (PMID: 15878741) Schmidt E … Koch HG (Biochimica et biophysica acta 2005) 3 4 22 58
  3. Mammalian N-acetylglutamate synthase. (PMID: 15050968) Morizono H … Tuchman M (Molecular genetics and metabolism 2004) 2 3 22 58
  4. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. (PMID: 12594532) Caldovic L … Tuchman M (Human genetics 2003) 3 22 44 58
  5. Mutation analysis in patients with N-acetylglutamate synthase deficiency. (PMID: 12754705) Häberle J … Koch HG (Human mutation 2003) 3 4 22 58

Products for NAGS Gene

Sources for NAGS Gene

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