Homo sapiens Gene: NAGS
Summary
InnateDB Gene IDBG-53212.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NAGS
Gene Name N-acetylglutamate synthase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000161653
Encoded Proteins
N-acetylglutamate synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:44004546-44009063
Strand Forward strand
Band q21.31
Transcripts
ENST00000293404 ENSP00000293404
ENST00000592915
ENST00000589767 ENSP00000465408
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004042 acetyl-CoA:L-glutamate N-acetyltransferase activity
GO:0008080 N-acetyltransferase activity
GO:0016740 transferase activity
Biological Process
GO:0000050 urea cycle
GO:0006526 arginine biosynthetic process
GO:0006536 glutamate metabolic process
GO:0008152 metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Urea cycle pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Arginine and proline metabolism pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8N159
TrEMBL Q2NKP2
UniProt Splice Variant
Entrez Gene 162417
UniGene Hs.8876
RefSeq NM_153006
HUGO HGNC:17996
OMIM 608300
CCDS CCDS11473
HPRD 10510
IMGT
EMBL AK300923 AK314432 AY116537 AY116538 AY158070 BC111713
GenPept AAI11714 AAM75385 AAM75386 AAN76451 BAG37046 BAG62555
RNA Seq Atlas 162417