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FLASH GENE
Symbol PIKFYVE contributors: mct/ - updated : 17-05-2014
HGNC name phosphoinositide kinase, FYVE finger containing
HGNC id 23785
Corresponding disease
CFD corneal fleck dystrophy
Location 2q33.3      Physical location : 209.130.990 - 209.223.474
Synonym name
  • phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III
  • FYVE finger-containing phosphoinositide kinase
  • 1-phosphatidylinositol-4-phosphate 5-kinase, type III
  • PtdIns(4)P-5-kinase
    • Synonym symbol(s) p235, PIP5K, KIAA0981, MGC40423, FAB1, CFD, PtdIns, PIP5K3, FLJ37746, ZFYVE29, PtdIns3P
    EC.number 2.7.1.150
    DNA
    TYPE functioning gene
    STRUCTURE 92.49 kb     42 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    42 - 9901 237 2098 - 2003 14530284
    10 - 2130 - 451 - 2003 14530284
    12 - 2421 - 548 - 2003 14530284
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
    Nervousbrain    
    Reproductivemale systemtestis   
    Respiratoryrespiratory tractlarynx   
    Urinarybladder    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a DEP domain
  • a FYVE-type zinc finger domain
  • a chaperone-like Cpn-60-TCP1domain
  • two spectrin repeats (SPEC) domains
  • a PIPKC domain
    • HOMOLOGY
    Homologene
    FAMILY
  • phosphatidylinositol-4-phosphate 5-kinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the phosphorylation of phosphatidylinositol-4- phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol-4,5-biphosphate
  • selectively regulating the sorting and traffic of peripheral endosomes containing lysosomally directed fluid phase cargo by controlling the morphogenesis and function of multivesicular bodies
  • important in multivesicular body/late endocytic function
  • with the phosphatase FIG4, constitute a single multiprotein complex organized by the PIKFYVE regulator VAC14 and its ability to homodimerize
  • plays an important role in membrane trafficking, including TGN to endosome retrograde sorting and in insulin-stimulated translocation of the SLC2A4 glucose transporter from intracellular storage vesicles to the plasma membrane
  • potential role for PIKFYVE in NPM-ALK-mediated invasion
  • direct function of MTM1 enzymatic activity in SR remodeling and a key role for PIKFYVE in promoting sarcoplasmic reticulum (SR) membrane curvature in skeletal muscle
  • lipid kinase phosphorylating PtdIns(3)P into PtdIns(3,5)P2 whereas the FIG4 lipid phosphatase antagonizes this reaction
  • implicated in insulin-regulated SLC2A4 translocation/glucose entry in 3T3L1 adipocytes
  • essential for systemic glucose homeostasis and insulin-regulated glucose uptake/GLUT4 translocation in skeletal muscle
  • VAC14 acts in a complex with the lipid kinase PIKFYVE and its counteracting phosphatase FIG4, regulating the interconversion of phosphatidylinositol-3-phosphate to phosphatidylinositol-3,5-bisphosphate
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • VAC14/PIKFYVE, a multimeric scaffolding adaptor protein coordinates synthesis and turnover of PtdIns(3,5)P2
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • PTEN and PIKFYVE are two major players in phagosomal PtdIns(3)P metabolism
  • AKT1 phosphorylation and activation of PIKFYVE is likely to be a common feedback mechanism for terminating RTK signaling and reducing receptor abundance
  • APP controls PIKFYVE function
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CFD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS