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FLASH GENE
Symbol GPLD1 contributors: mct - updated : 07-06-2016
HGNC name glycosylphosphatidylinositol specific phospholipase D1
HGNC id 4459
Location 6p22.3      Physical location : 24.428.404 - 24.489.850
Synonym name
  • glycoprotein phospholipase D
  • phospholipase D, phosphatidylinositol-glycan-specific
  • Synonym symbol(s) GPIPLD, PIGPLD, PIGPLD1, GPIPLDM, MGC22590, GPIPLDM, PLD
    EC.number 3.1.4.50
    DNA
    TYPE functioning gene
    STRUCTURE 69.21 kb     24 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
    25 - 5858 92.3 840 - 2011 20858461
    - - 1096 - 176 - 2011 20858461
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
    Nervousbrain     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Amphiphilic
    STRUCTURE
    motifs/domains
  • integrin alpha (beta propellor repeats), FG-GAP
  • HOMOLOGY
    Homologene
    FAMILY
  • phospholipase D family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • hydrolyzing the inositol phosphate linkage in proteins anchored by phosphatidyl inositol glycans, releasing these proteins from membrane
  • widely implicated in the generation of Phosphatidic acid (PA) needed for MTOR activation, it is becoming clear that PA generated via the LPAAT and DGK pathways is also involved in the regulation of MTOR
  • strictly specific enzyme for GPI anchors
  • may be involved in modulating the inflammatory process during scrapie disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associated in serum with HDL
  • cell-specific GPLD1- or peptidase-dependent pathways for PRSS8 secretion may control PRSS8 functions in a tissue-specific manner
  • a critical component of RAS signaling in human cancer cells is the activation of GPLD1
  • essential role for GPLD1 in the recruitment of VAT1 to membranes in human neutrophils
  • Erk activity is governed by GPLD1 activity and regulates the tyrosine phosphorylation of PXN, potentially explaining its role in cell motility
  • mediates STAR protein and aldosterone synthase (CYP11B2) expression via increasing the phosphorylation (activation) of their regulatory transcription factors
  • reciprocal regulation of GPLD1 by PRKAA1 and regulation of PRKAA1 by GPLD1 and phosphatidic acid (PA)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    hyperexpression may be associated with tumor malignancy
    constitutional     --low  
    down-regulation of GPLD1 protein may be involved in prion propagation in the brains of prion diseases
    constitutional     --low  
    in human CJD patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gpld1 was dramatically down-regulated in the brains of scrapie-infected mice, especially in the caveolin-enriched membrane fractions