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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
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