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FLASH GENE
Symbol DPAGT1 contributors: mct/npt/pgu - updated : 18-11-2013
HGNC name dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
HGNC id 2995
Corresponding disease
CDG1J congenital disorder of glycosylation, type 1J
CMSTA2 congenital myasthenic syndrome with tubular aggregates-2
Location 11q23.3      Physical location : 118.967.213 - 118.972.785
Synonym name
  • dolichyl-phosphate alpha-N-acetylglucosaminyltransferase
  • GlcNAc-1-P transferase
  • UDP-N-acetylglucosamine-dolichyl-phosphate
  • N-acetylglucosaminephosphotransferase
    • Synonym symbol(s) GPT, DGPT, UGAT, DPAGT, DPAGT2, D11S366, ALG7, G1PT, UAGT, CDG-Ij
    EC.number 2.7.8.15
    DNA
    TYPE functioning gene
    STRUCTURE 5.53 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure
  • potential transcription regulatory motifs, such as Sp-1, E4TF1 and ATF binding sites, in the 5'-flanking region
  • promoter contained the TCF/LEF consensus sequences, that interacts with TCF and CTNNB
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2159 46.1 408 - 2009 19519349
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunethymus    
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a glycosyl transferase domain
    • HOMOLOGY
    interspecies ortholog to rattus h2afx (90 pc)
    ortholog to murine Dpagt1 (89.95 pc)
    Homologene
    FAMILY
  • glycosyltransferase family 4
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • catalyzing the initial step in the synthesis of dolichol- p-p-oligosaccharides
  • involved in glycosylation of proteins on asparagine amino acids (N-linked) in proteins of eukaryotic cells from dolichol-phosphate and UDP-N-acetylglucosamine
  • playing a fundamental role in the pathway for protein N-glycosylation
  • upstream regulator of E-cadherin N-glycosylation status and adherens junction composition
  • initiates the synthesis of the lipid-linked oligosaccharide precursor for protein N-glycosylation in the endoplasmic reticulum and is a key determinant of the extent of protein N-glycosylation
  • upstream regulator of N-glycosylation status of CDH1 and its diminished expression is required for the formation of mature intercellular adhesion complexes
  • DPAGT1 and GFPT1 are required for protein glycosylation, which in turn is essential for correct protein folding and targeting
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target of the canonical Wnt/beta-catenin pathway, indicating that Wnt signaling affects protein N-glycosylation
  • JUP interacts with the DPAGT1 promoter through a Wnt-dependent mechanism distinct from that of CTNNB1
  • target of the canonical Wnt signaling pathway (overexpression of DPAGT1 in oral squamous cell carcinoma (OSCC) tumor is linked to aberrant activation of canonical Wnt signaling)
    • cell & other
    REGULATION
    activated by Wnt/beta-catenin pathway that is a direct transcriptional activator of the DPAGT1 gene
    Other its expression was regulated in response to Wnt/beta-catenin signaling through the binding of Tcf/beta-catenin to the TCF/LEF sequence in its promoter
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1J , CMSTA2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    dysregulation causes disturbances in intercellular adhesion in oral cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS