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FLASH GENE
Symbol GNPTG contributors: npt/mct - updated : 09-02-2009
HGNC name N-acetylglucosamine-1-phosphate transferase, gamma subunit
HGNC id 23026
Corresponding disease
GNPTGD N-acetylglucosaminyl 1-phosphotransferase deficiency
Location 16p13.3      Physical location : 1.401.899 - 1.413.351
Synonym name
  • GlcNAc-phosphotransferase gamma-subunit
  • chromosome 16 open reading frame 27
  • UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
    • Synonym symbol(s) GNPTAG, LP2537, CAB56184, C16orf27 , c316G12.3, RJD9
    DNA
    TYPE functioning gene
    STRUCTURE 11.42 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1228 33.84 305 - Martin (2004)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Endocrineneuroendocrinepituitary  highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-glycosylation sites (Raas-Rothschild 2000)
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • catalyzing the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome
  • plays a key role in the formation of the mannose 6-phosphate recognition marker (Braulke 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GNPTGD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS