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FLASH GENE
Symbol ITPK1 contributors: npt/mct/pgu - updated : 28-09-2013
HGNC name inositol 1,3,4-triphosphate 5/6 kinase
HGNC id 6177
Location 14q32.12      Physical location : 93.403.258 - 93.582.263
Synonym name
  • Ins(1,3,4)P(3) 5/6-kinase
  • inositol-tetrakisphosphate 1-kinase
  • Synonym symbol(s) ITRPK1, Ins
    EC.number 2.7.1.134, 2.7.1.159
    DNA
    TYPE functioning gene
    STRUCTURE 179.01 kb     11 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
    11 - 3385 45.6 414 - 2007 1761652
    ITPK1
    11 - 3264 - 414 - 2007 1761652
    11 - 2821 - 314 - 2007 1761652
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Reproductivefemale systemuteruscervix highly
     female systemovary  highly
    Respiratorylung   highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a poly(A) tail
  • secondary structure secondary structural features able to impart substrate selectivity and enhance nucleotide binding, thereby promoting intersubstrate phosphate transfer
    HOMOLOGY
    interspecies homolog to C.elegans Y50E8.A
    intraspecies homolog to ITGB1
    Homologene
    FAMILY
  • ITPK1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • reversible, poly-specific inositol phosphate kinase that has been implicated as a modifier gene in cystic fibrosis
  • reversible inositol phosphate kinase/phosphatase that links receptor-dependent phospholipase C to Ca2+-activated chloride channels
  • inhibits tumor necrosis factor-induced apoptosis
  • catalyzes the rate-limiting step in the formation of higher phosphorylated forms of inositol in mammalian cells
  • plays a pivotal role in inositol metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CREBBP acetylates ITPK1, and ITPK1 stability is decreased by acetylation
  • cell & other
    REGULATION
    Other modified by acetylation of internal lysine residues (lysine acetylation alters both the stability as well as the activity of ITPK1 in cells)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice producing reduced levels of Itpk1 develop neural tube defects with incomplete penetrance