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FLASH GENE
Symbol PIGV contributors: mct - updated : 17-09-2019
HGNC name phosphatidylinositol glycan anchor biosynthesis, class V
HGNC id 26031
Corresponding disease
HPMR hyperphosphatasia-mental retardation syndrome
Location 1p36.11      Physical location : 27.114.485 - 27.124.886
Synonym name
  • phosphatidylinositol glycan, class V
  • GPI mannosyltransferase II
  • Synonym symbol(s) FLJ20477, GPI-MT-II, RP1-50O24.2, HPMRS1, PIG-V
    EC.number 2.4.1.-/2.3.1.225
    DNA
    TYPE functioning gene
    STRUCTURE 10.44 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2380 - 493 - 2005 15623507
    4 - 2750 - 493 - 2005 15623507
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight putative transmembrane regions
  • two functionally important conserved regions facing the ER lumen
  • HOMOLOGY
    Homologene
    FAMILY
  • PIGV family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • mannosyltransferase activity
  • involved in transferring the second mannose in the GPI anchor
  • second mannosyltransferase in GPI anchor biosynthesis
  • is the second mannosyltransferase essential for glycosylphosphatidylinositol (GPI) biosynthesis
  • MYCN, PIGV and UPF3B regulate likely synapse development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    GPI-anchor biosynthesis pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPMR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS