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FLASH GENE
Symbol INPP5K contributors: mct/npt - updated : 13-04-2017
HGNC name inositol polyphosphate-5-phosphatase K
HGNC id 33882
Corresponding disease
MDCCAID muscular dystrophy with cataracts and intellectual disability
Location 17p13.3      Physical location : 1.397.871 - 1.420.182
Synonym name
  • inositol polyphosphate 5- phosphatase
  • 43-kDa form skeletal muscle and kidney enriched inositol phosphatase
  • skeletal muscle and kidney enriched inositol phosphatase
    • Synonym symbol(s) LOC51763, PPS, SKIP
    EC.number 3.1.3.56
    DNA
    TYPE functioning gene
    STRUCTURE 22.31 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3001 51 448 - 2012 22815484
    13 - 3232 - 372 - 2012 22815484
    14 - 3391 - 372 - 2012 22815484
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain   highly Homo sapiensAdult
     brain   highly Homo sapiensFetal
    Urinarykidney   highly
    Visualeye   highly Homo sapiensAdult
     eye   highly Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiensFetal
    Muscularstriatumskeletal highly Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 5-phosphatase domain with two highly conserved catalytic motifs
  • C-terminal SKICH motif linked to targeting of INPP5K to the ER membrane
    • HOMOLOGY
    Homologene
    FAMILY
  • inositol-1,4,5-trisphosphate 5- phosphatase type II family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • primarily localized to the ER, and it can form a complex with HSPA to regulate insulin receptor signaling at actin ruffles on the plasma membrane by acting as a negative regulator of phosphatidylinositol-3-kinase (PI3K) signaling
    • basic FUNCTION
  • playing a negative role in regulating the actin cytoskeleton through hydrolyzing phosphatidyl inositol 4-5 biphosphate
  • hydrolyzes phosphatidylinositol 3,4,5-trisphosphate [PI(3,4,5)P3] to downregulate intracellular levels
  • preferentially regulates glucose transport and actin cytoskeletal rearrangement among a variety of PI(3,4,5)P3 downstream events
  • with INPP5D and INPP5E, implicated in negatively regulating insulin signalling and glucose homoeostasis in specific tissues (Ooms 2009)
  • INPPK5 and INPPL1, inhibit actin cytoskeletal reorganization by opposing PI3K/Akt signaling
  • is important for the control of the arginine vasopressin/aquaporin-2 signalling pathway and water transport in kidney collecting ducts
  • specific and prominent role of INPP5K in the regulation of insulin signaling
  • regulates MYOD1-mediated muscle differentiation
  • physiological role of PAK1-INPP5K binding in the regulation of insulin signaling in skeletal muscle
  • tumor suppressor activity of INPP5K and MYO1C, with overlapping roles in phosphoinositide (PI) 3-kinase/Akt signaling, known to be vital for the cell growth and survival
  • implicated in the regulation of insulin signaling in skeletal muscle
  • is essential for skeletal muscle structure and function
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • BAG4 forms a complex with several 5-ptase family members, including INPPL1, INPP5D, INPP5K
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PABPN1 for the control of muscle specific genes
  • markedly inhibited SLC2A4 translocation and membrane ruffle formation
  • interact with HSPA5, a master regulator of ER functions including the ER stress response
  • interacts with PAK1 and glucose-regulated protein 78 (HSPA5), both of which are necessary for the regulation of insulin signaling
  • could alter dystroglycan targeting by altering HSPA5 function
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDCCAID
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Inpp5k transgenic mice present defects in water metabolism characterized by a reduced plasma osmolality at baseline, a delayed urinary water excretion following a water load, and an increased acute response to vasopressin