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FLASH GENE
Symbol PIGP contributors: mct - updated : 29-04-2016
HGNC name phosphatidylinositol glycan, class P
HGNC id 3046
Corresponding disease
EIEE55 Epileptic encephalopathy, early infantile, 55
Location 21q22.13      Physical location : 38.437.663 - 38.445.458
Synonym name Down syndrome critical region gene 5
Synonym symbol(s) DSCR, DSRC, DCRC, DSR5, DSCR5, NPD010, DCRC-S,
EC.number 2.4.1.198
DNA
TYPE functioning gene
STRUCTURE 7.79 kb     6 Exon(s)
text structure
  • three alternative exons 1 (1a,1b,1c)
  • two for exon 2 (2a,2b)
    • MAPPING cloned Y linked N status provisional
    regionally located Down syndrome critical region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 805 15.4 134 - 2001 10814524
  • DSCR5a1
    • 4 splicing 911 - 158 - 2001 10814524
  • DSCR5b
  • lacking exon 1
    • - splicing 830 18.1 108 - 2001 10814524
    - splicing 830 - 108 - 2001 10814524
    - - - - 108 - 2001 10814524
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text tongue
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Dcrc
    Homologene
    FAMILY
    CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • regulates convergent extension (CE) movements through the non-canonical Wnt pathway
  • regulates CE in vertebrate embryos by anchoring different Wnt receptors at the cell surface and maintaining Dishevelled stability
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the GPI-GlcNAc transferase
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • functionally interacted with Knypek/GLI4 and was required for its localization at the cell surface
  • KMT2B is required for the expression of PIGP, the enzyme catalyzing the first step of glycosylphosphatidylinositol (GPI) anchor synthesis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE55
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    may lead to or represent impaired glycosylphosphatidylinositol- N-acetylglucosaminyltransferase mediated posttranslational modifications and subsequent anchoring of proteins to the plasma membrane
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • impaired Pigp expression in Kmt2b(-/-) macrophages abolished GPI anchor-dependent loading of proteins on the cell membrane