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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
Corresponding disease
OFD17 orofaciodigital syndrome XVII
SRTD20 short-rib thoracic dysplasia 20 with polydactyly
Location 4q28.1      Physical location : 128.554.086 - 128.637.934
Synonym name
  • homo sapiens KIAA1284 protein (KIAA1284), mRNA
  • PDZ domain containing 6
  • homolog of inturned (D. melanogaster) (X. tropicalis)
  • Synonym symbol(s) KIAA1284, PDZD6, PDZK6, FLJ41326, INT, CPLANE4, OFD17, SRTD20
    DNA
    TYPE functioning gene
    STRUCTURE 93.51 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3275 106 942 - 2006 16493421
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary   
    cell lineage
    cell lines chondrosarcoma
    fluid/secretion
    at STAGE
    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