Tissue expression of NAGS - Summary - The Human Protein Atlas

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

RNA tissue category

HPA:	Tissue enhanced (duodenum, small intestine)
GTEx:	Tissue enhanced (liver)
FANTOM5:	Tissue enhanced (liver, small intestine)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (duodenum, small intestine)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (liver)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (liver, small intestine)

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