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FLASH GENE

Symbol

NAGS

contributors: mct - updated : 20-01-2016

HGNC name	N-acetylglutamate synthase
HGNC id	17996

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ANHA acute neonatal hyperammonemia
Location	17q21.31      Physical location : 42.082.031 - 42.086.435
Synonym name	amino-acid acetyltransferase
Synonym symbol(s)	NAT7, FLJ23827, AGAS, ARGA
EC.number	2.3.1.1

DNA

TYPE	functioning gene
STRUCTURE	4.52 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   enhancer   transcription factor
text structure	several transcription factor binding motifs were conserved within the promoter and enhancer regions while a TATA-box motif was absent, but also binding of Sp1 and CREB, but not C/EBP in the promoter and HNF-1 and NF-Y, but not SMAD3 or AP-2 in the enhancer

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_153006 7 - 2086 NP_694551 - 534 - 2011 23776373

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine       Homo sapiens   liver         Homo sapiens   stomach         Homo sapiens Lymphoid/Immune spleen         Homo sapiens Reproductive male system testis       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal putative mitochondrial targeting signal of 49 amino acids
	a "variable domain" of 45 amino acids
	a "conserved domain" of 440 amino acids
	C-terminal catalytic domain

HOMOLOGY

interspecies	ortholog to murine Nags
	homolog to rattus LOC303563

Homologene

FAMILY

acetyltransferase family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	localizes to the cell surface, and to endoplasmic reticulum (ER) and Golgi compartments

basic FUNCTION	catalyzing the formation of N-acetylglutamate (NAG), an essential allosteric activator of carbamylphosphate synthase I (CPSI)
	catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A
	produces a unique cofactor, N-acetylglutamate (NAG), that is essential for the catalytic function of the first and rate-limiting enzyme of ureagenesis, carbamyl phosphate synthetase 1 (CPS1)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

NAGS major role is to produce the essential co-factor of carbamoyl phosphate synthetase 1 (CPS1) in the urea cycle

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ANHA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS