Version 5.4
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
IDBP-53214
N-acetylglutamate synthase
IDBP-759461
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
ENSMUSG00000048217
View Gene Order
ENSBTAG00000016249
Not yet available
Pathways
NETPATH
REACTOME
REACT_847
Urea cycle pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00330
Arginine and proline metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.8876
RefSeq NM_153006
HUGO
OMIM
CCDS CCDS11473
HPRD 10510
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca