Cell atlas - NAGS - The Human Protein Atlas

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NAGS

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	NAGS
Gene description	N-acetylglutamate synthase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the mitochondria.
RNA cell category	Cell line enhanced (U-87 MG, TIME)
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA027300
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (U-87 MG, TIME) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the mitochondria.

Main location

Mitochondria (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA027300	CACO-2	Mitochondria
	HPA027300	U-2 OS	Mitochondria

GENE INFORMATION
Gene name	NAGS (HGNC Symbol)
Synonyms	AGAS, ARGA, NAT7
Description	N-acetylglutamate synthase (HGNC Symbol)
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]
Chromosome	17
Cytoband	q21.31
Chromosome location (bp)	44004546 - 44009063
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000161653 (version 83.38)
Entrez gene	162417
UniProt	Q8N159 (UniProt - Evidence at protein level)
neXtProt	NX_Q8N159
Antibodypedia	NAGS antibodies

PROTEIN BROWSER

NAGS-001	NAGS-005

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NAGS-001 ENSP00000293404 ENST00000293404	Q8N159 [Direct mapping] N-acetylglutamate synthase, mitochondrial N-acetylglutamate synthase long form N-acetylglutamate synthase short form N-acetylglutamate synthase conserved domain form Show all	Enzymes ENZYME proteins Transferases Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0000050 [urea cycle] GO:0004042 [acetyl-CoA:L-glutamate N-acetyltransferase activity] GO:0005759 [mitochondrial matrix] GO:0006526 [arginine biosynthetic process] GO:0006536 [glutamate metabolic process] GO:0006595 [polyamine metabolic process] GO:0008080 [N-acetyltransferase activity] GO:0034618 [arginine binding] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] Show all	534 aa 58.2 kDa	Yes	0
NAGS-005 ENSP00000465408 ENST00000589767	K7EK11 [Direct mapping] N-acetylglutamate synthase, mitochondrial Show all	Predicted intracellular proteins Show all	GO:0008152 [metabolic process] GO:0016740 [transferase activity] Show all	511 aa 56 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.