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FLASH GENE
Symbol INPP5E contributors: mct - updated : 03-05-2016
HGNC name inositol polyphosphate-5-phosphatase, 72kDa
HGNC id 21474
Corresponding disease
JBTS1 Joubert syndrome 1
MORM MORM syndrome
Location 9q34.3      Physical location : 139.323.074 - 139.334.256
Synonym name
  • mitochondrial matrix processing protease, alpha subunit
  • phosphatidylinositol polyphosphatase 5-phosphatase type IV
  • phosphatidylinositol (4.5) biphosphate 5-phosphatase homolog
    • Synonym symbol(s) KIAA0123, Alpha-MPP, PPI5PIV, MGC117201
    EC.number 3.4.24.64, 3.1.3.36
    DNA
    TYPE functioning gene
    STRUCTURE 11.18 kb     10 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
    10 - 3440 72 644 - 2000 10806194
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Nervousbrain   highly Homo sapiens
    Reproductivemale systemtestis  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal proline rich domain
  • a central 5-phosphatase domain
  • inositol polyphosphate phosphatase catalytic domain
  • a C-terminal CAAX motif
    • mono polymer heteromer , dimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Inpp5e
    homolog to rattus Rn.11175
    homolog to xenopus Xl.6709
    homolog to C.elegans Y71G12B.24
    Homologene
    FAMILY
  • inositol-1,4,5-trisphosphate 5- phosphatase type IV family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • predominantly located to the Golgi
  • localizes predominantly to the primary cilium during interphase
    • basic FUNCTION
  • cleaving the N terminal transit peptide from mitochondrial protein precursors
  • may hydrolyzes phosphatidylinositol 3,4, 5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby may regulate Golgi-vesicular trafficking
  • with INPP5D and INPP5K, implicated in negatively regulating insulin signalling and glucose homoeostasis in specific tissues
  • regulate macrophage phagocytosis
  • plays an essential role in the primary cilium by controlling ciliary growth factor and PI3K signaling and stability
  • functions to stabilize the normal structure and number of primary cilia in quiescent cells stimulated by growth factors
  • regulates cilia stability
    • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • alpha MPP and beta MPP
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactions of INPP5E with several ciliary and centrosomal proteins, including a recently identified ciliopathy protein centrosomal protein 164 (CEP164)
  • is a novel prenyl-dependent cargo of PDE6D
  • MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism
  • ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E
    • cell & other
  • is targeted to the primary cilium through a motif near the C terminus and PDE6D (PDE6D)-dependent mechanisms
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MORM , JBTS1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS