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Nags
Gene Detail
Symbol

Name
ID
Nags
N-acetylglutamate synthase
MGI:2387600
Synonyms
1700120E20Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 11
65.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr11:102145513-102149477 bp, + strand
From VEGA annotation of GRCm38

  3965 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:77363  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NAGS
Protein SuperFamily: amino-acid acetyltransferase, animal type
Gene Tree: Nags

Human
homologs
NAGS, N-acetylglutamate synthase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 162417
neXtProt AC: NX_Q8N159

Human Synonyms: AGAS, ARGA

Human Chr (Location): 17q21.31; chr17:44004546-44009068 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NAGS

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Genomic Mutations involving Nags (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
In the absence of N-carbamyl-L-glutamate and L-citrulline supplementation homozygous null mice develop severe hyperammonemia and die.
 
Human Diseases Modeled in Mice Using Nags (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Nags interacts with 56 markers (Mir22, Mir29b-1, Mir31, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process glutamate metabolic process, urea cycle
Component mitochondrion
Function acetyl-CoA:L-glutamate N-acetyltransferase activity, transferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nags ; ZFIN nags    NEW 
Molecular
reagents
All nucleic(15) cDNA(15)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000002350 (Evidence)
Ensembl Gene Model ENSMUSG00000048217 (Evidence)
Entrez Gene 217214 (Evidence)
UniGene 31686
DFCI TC1587111, TC1772970
DoTS DT.101362238, DT.55278616, DT.91329326
NIA Mouse Gene Index U013383
EC 2.3.1.1
Consensus CDS Project CCDS25488.1
International Mouse Phenotyping Consortium Status Nags
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002350 VEGA Gene Model | MGI Sequence Detail 3965 C57BL/6J ±  kb
transcript OTTMUST00000004679 VEGA | MGI Sequence Detail 2028 Not Applicable 
polypeptide OTTMUSP00000002248 VEGA | MGI Sequence Detail 527 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(3) UniProt(1)
Polymorphisms
SNPs within 2kb(34 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016181 Acyl-CoA N-acyltransferase
InterPro IPR001048 Aspartate/glutamate/uridylate kinase
InterPro IPR006855 Domain of unknown function DUF619
InterPro IPR011243 N-acetylglutamate synthase, animal
Protein Ontology PR:000010964 N-acetylglutamate synthase, mitochondrial
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:184448 Senkevitch E, et al., A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase. Mol Genet Metab. 2012 Jun;106(2):160-8
All references(33)
Disease annotation references (1)
Other
accession IDs
MGI:1920851, MGI:2144153

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory