InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NAGS

Summary

InnateDB Protein

IDBP-53214.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NAGS

Protein Name

N-acetylglutamate synthase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000293404

InnateDB Gene

IDBG-53212 (NAGS)

Protein Structure

UniProt Annotation

Function

Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

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:0000269PubMed:12754705, ECO:0000269PubMed:15878741}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:12459178, ECO:0000269PubMed:12754705}.

Comments

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

Biological Process

GO:0000050	urea cycle
GO:0006526	arginine biosynthetic process
GO:0006536	glutamate metabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005759

mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000182 GNAT domain
IPR001048 Aspartate/glutamate/uridylate kinase
IPR006855 Domain of unknown function DUF619
IPR011243 N-acetylglutamate synthase, animal
IPR016181 Acyl-CoA N-acyltransferase

PFAM