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FLASH GENE
Symbol GNPTAB contributors: npt/mct - updated : 02-05-2012
HGNC name N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HGNC id 29670
Corresponding disease
GNPTABD N-acetylglucosaminyl 1-phosphotransferase deficiency
MLIIIA mucolipidosis IIIA
Location 12q23.2      Physical location : 102.139.275 - 102.224.645
Synonym name
  • glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase (mucolipidoses II & III)
  • stealth protein GNPTAB
  • GlcNAc phosphotransferase
  • UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine
  • Synonym symbol(s) GNPT, GNPTA, KIAA1208, MGC4170, DKFZp762B226, ICD
    EC.number 2.7.8.17
    DNA
    TYPE functioning gene
    STRUCTURE 85.40 kb     21 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 5644 143.5 1256 - Kudo (2005)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    Lymphoid/Immunethymus    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    Urinarypodocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, mesenchymal cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain, interrupted by a long insertion, showing similarities to bacterial capsule biosynthesis proteins
  • two putative transmembrane domains
  • a complex preserved modular structure comprising at least six domains
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • stealth family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the first step in the synthesis of the mannose-6-phosphate recognition marker
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text lysosomal enzyme transport pathway
    PATHWAY
    metabolism
    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) GNPTABD , MLIIIA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismlysosome 
    supplementation with an enriched total lysosomal enzyme mixture derived from normal skin fibroblasts, is a potential new, alternative therapeutic approach for GNPTABD
    ANIMAL & CELL MODELS