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FLASH GENE
Symbol PIGN contributors: mct - updated : 11-09-2019
HGNC name phosphatidylinositol glycan, class N
HGNC id 8967
DNA
TYPE functioning gene
STRUCTURE 142.83 kb     31 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
31 - 4896 102.4 931 - 1999 10574991
30 - 4816 102.4 931 - 1999 10574991
5'utr distinct
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumear   highly
Reproductivefemale systemuteruscervix highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • potential N glycosylation site
  • sulfate domain
  • fourteen predicted transmembrane domains
  • a large NH2-terminal ER lumenal domain
  • HOMOLOGY
    interspecies homolog to murine Pign
    ortholog to S.cerevisiae Mcd4p
    Homologene
    FAMILY
    CATEGORY regulatory , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • transferring phosphoethanolamine to the first mannose of the glycosylphosphotidylinositol
  • may be participating in the modification of GPI anchors with side chain
  • is crucial in regulating mitotic integrity to maintain chromosomal stability and prevents leukemic transformation/progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosylation of proteins
    a component component of the GPI anchor synthesis pathway
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PIGN bound to the spindle assembly checkpoint protein, MAD1L1, and regulated its expression during the cell cycle
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCAHS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS