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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
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