NAGS (N-acetylglutamate synthase)

2014-11-01 Affiliation

Identity

HGNC

NAGS

LOCATION

17q21.31

LOCUSID

162417

ALIAS

AGAS,ARGA

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 162417
MIM: 608300
HGNC: 17996
Ensembl: ENSG00000161653

Variants:

dbSNP: 162417
ClinVar: 162417
TCGA: ENSG00000161653
COSMIC: NAGS

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000161653	ENST00000293404	Q8N159
ENSG00000161653	ENST00000589767	K7EK11

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Arginine biosynthesis	KEGG	ko00220
Arginine biosynthesis	KEGG	hsa00220
Metabolic pathways	KEGG	hsa01100
2-Oxocarboxylic acid metabolism	KEGG	hsa01210
2-Oxocarboxylic acid metabolism	KEGG	ko01210
Biosynthesis of amino acids	KEGG	hsa01230
Biosynthesis of amino acids	KEGG	ko01230
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Urea cycle	REACTOME	R-HSA-70635
Metabolism of polyamines	REACTOME	R-HSA-351202

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA165958402	carglumic acid	Chemical	LabelAnnotation	associated
PA166176020	sodium benzoate / sodium phenylacetate	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12459178	2002	Cloning and expression of the human N-acetylglutamate synthase gene.	26
12459178	2002	Cloning and expression of the human N-acetylglutamate synthase gene.	26
12594532	2003	Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.	21
17421020	2007	Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.	19
15714518	2005	Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.	18
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
12754705	2003	Mutation analysis in patients with N-acetylglutamate synthase deficiency.	16
16321554	2006	Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.	16
19533169	2010	Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.	14

Citation

Dessen P

NAGS (N-acetylglutamate synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70677/nags