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FLASH GENE
Symbol NAGLU contributors: mct/npt - updated : 26-06-2009
HGNC name N-acetylglucosaminidase, alpha-
HGNC id 7632
Corresponding disease
MPS3B mucopolysaccharidosis, type IIIB
Location 17q21.31      Physical location : 40.687.950 - 40.696.464
Synonym name
  • N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB)
  • alpha-N-acetylglucosaminidase 82 kDa form
  • alpha-N-acetylglucosaminidase 77 kDa form
  • MPS IIIB
  • Synonym symbol(s) NAG, UFHSD, UFHSD1, MPS3B, MPS-IIIB
    EC.number 3.2.1.50
    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
    Physical map
    HCRT 17q21 hypocretin (orexin) neuropeptide precursor LGP1 17q21.2 hypocretin (orexin) neuropeptide precursor STAT5B 17q11.2 signal transducer and activator of transcription 5B STAT5A 17q11.2 signal transducer and activator of transcription 5A MGC16063 17q21.31 hypothetical protein MGC16063 STAT3 17q21 signal transducer and activator of transcription 3 (acute-phase response factor) PTRF 17q21.2 polymerase I and transcript release factor ATP6V0A1 17q21.3 ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 NAGLU 17q21.1 N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) HSD17BP1 17q11-q21 hydroxysteroid (17-beta) dehydrogenase pseudogene 1 HSD17B1 17q21.1 hydroxysteroid (17-beta) dehydrogenase 1 DPCK 17q12-q21 bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase TCFL4 17q21.1 transcription factor-like 4 HUMGT198A 17q12-q21 GT198, complete ORF LOC162427 17q21.31 hypothetical protein LOC162427 TUBG1 17q21 tubulin, gamma 1 LOC342578 17q21.31 similar to high mobility group protein homolog HMG4 TUBG2 17q21 tubulin, gamma 2 FLJ21019 17q21.31 hypothetical protein FLJ21019 GPR2 17q21.1 G protein-coupled receptor 2 CNTNAP1 17q21 contactin associated protein 1 EZH1 17q21 enhancer of zeste homolog 1 (Drosophila) RAMP2 17q12-q21.1 receptor (calcitonin) activity modifying protein 2 MGC10540 17q21.31 hypothetical protein MGC10540
    regionally located in the upstream flanking region of 17-beta hydroxysteroid dehydrogenase gene (HSD17B1)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2798 86 743 - Weber (2001)
    - - - 79 - - Weber (2001)
    differ from variant 1 in its glycosylation pattern
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     stomach   highly
    Endocrineadrenal gland   highly
    Nervousnervecranial nerve  highly
    Reproductivefemale systemovary  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    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)