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FLASH GENE
Symbol INTU contributors: mct - updated : 25-08-2022
HGNC name inturned planar cell polarity effector homolog (Drosophila)
HGNC id 29239
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • PDZ domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • protein binding activity
  • planar cell polarity effector gene Intu regulates cell fate-specific differentiation of keratinocytes through the primary cilia
  • is required for ciliogenesis
  • cilia and planar polarity effector, that performs prominent ciliogenic functions during morphogenesis, such as in the skin
  • is essential for intraflagellar transport A complex assembly during ciliogenesis
  • INTU is indispensable during basal cell carcinoma (BCC) tumorigenesis and its aberrant upregulation is likely a prerequisite for primary cilia formation during Hh-dependent tumorigenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is a subunit of the CPLANE multiprotein complex essential for the assembly of IFT-A particles and intraflagellar transport
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRTD20 , OFD17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in human basal cell carcinoma (BCC), coinciding with increased primary cilia formation and activated hedgehog (Hh) signaling
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS