Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

AGA

contributors: npt/ - updated : 13-10-2006

HGNC name	aspartylglucosaminidase
HGNC id	318

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AGU aspartylglucosaminuria
Location	4q34.3      Physical location : 178.351.930 - 178.363.657
Synonym name	N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase
	glycosylasparaginase
	aspartylglucosylamine deaspartylase
Synonym symbol(s)	GA, ASRG
EC.number	3.5.1.26

DNA

TYPE	functioning gene
STRUCTURE	11.67 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000027 9 - 2113 NP_000018 - 346 - - NM_001171988 - - 2083 NP_001165459 - 336 - -

EXPRESSION

Type

widely

constitutive of

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 Cardiovascular vessel       moderately Digestive intestine small intestine         pancreas exocrine       highly Lymphoid/Immune lymph node       moderately Nervous brain         Reproductive female system uterus cervix   predominantly   male system testis     moderately Respiratory lung       moderately Skin/Tegument skin       highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective         Epithelial absorptive excretory digestive epithelium     Epithelial barrier/lining uroepithelium     Epithelial secretory glandular exocrine   Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol   fibroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	amniotic fluid cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal signal peptide of 23 AAs is removed in the ER, and then dimerization and glycosylation of the two precursor peptides occur (Saito 2008)

conjugated

GlycoP

mono polymer

heteromer , tetramer

isoforms

Precursor

inactive AGA precursor consisting of 346 amino acid residues on endoplasmic reticulum (ER)-bound ribosomes (Saito 2008)

HOMOLOGY

interspecies

ortholog to murine Aga

Homologene

FAMILY

Ntn-hydrolase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	involved in the catabolism of N-linked oligosaccharides of glycoproteins
	cleaving asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate , other

signaling

catabolism of glycoproteins (protein deglycosylation)

a component

heterotetramer of two alpha and two beta chains bound by disulfide bonds

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

targeted to the lysosome by M6P receptor mediated pathway

ASSOCIATED DISORDERS

corresponding disease(s)

AGU

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS