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

Home Page

FLASH GENE

Symbol

NAGLU

contributors: mct/npt - updated : 26-06-2009

HGNC name	N-acetylglucosaminidase, alpha-
HGNC id	7632

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	8.52 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

in the upstream flanking region of 17-beta hydroxysteroid dehydrogenase gene (HSD17B1)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 6 - 2798 isoform 1 86 743 - Weber (2001) variant 2 - - - isoform 2 79 - - Weber (2001) differ from variant 1 in its glycosylation pattern

EXPRESSION

Type

widely

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 liver       highly   stomach       highly Endocrine adrenal gland       highly Nervous nerve cranial nerve     highly Reproductive female system ovary     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

six potential glycosylation sites

conjugated

GlycoP

isoforms

Precursor

mature form 73kDa

HOMOLOGY

interspecies

ortholog to murine Naglu (84 pc)

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	present in the extracellular matrix (Ronceret 2008)

basic FUNCTION	acetyl-glucosaminidase, alpha-N, catalyzing the fifth step of degradation of glycosaminoglycans (mucopolysaccharides)
	acting on heparan sulfate
	complex polymer containing glucosamine and N-acetyl-glucosamine residues (Ronceret 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

targeted to the lysosome by M6P receptor mediated pathway

ASSOCIATED DISORDERS

corresponding disease(s)

MPS3B

related resource

Mucopolysaccharidosis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	immune responses contribute greatly to the neuropathology of MPS3B and should be considered as an adjunct treatment in future therapeutic developments for optimal therapeutic effect (DiRosario 2009)

ANIMAL & CELL MODELS

in mouse model of MPS III B, neurons and microglia display the characteristic vacuolation of lysosomal storage of undegraded substrate, but neurons in the medial entorhinal cortex (MEC) display accumulation of several additional substances (OHMI 2009)