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FLASH GENE
Symbol IFT88 contributors: npt/mct - updated : 28-03-2009
HGNC name intraflagellar transport 88 homolog (Chlamydomonas)
HGNC id 20606
Location 13q12.11      Physical location : 21.141.207 - 21.265.574
Genatlas name polaris
Synonym name
  • tetratricopeptide-repeat containing gene
  • Probe hTg737 (polycystic kidney disease, autosomal recessive)
  • polaris
  • tetratricopeptide repeat domain 10
  • recessive polycystic kidney disease protein Tg737 homolog
  • Synonym symbol(s) D13S1056E, TG737, TTC10, RP11-172H24.2, DAF19, MGC26259, RP11-172H24.2
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 124.37 kb     26 Exon(s)    1 Copie(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - - - specifically expressed in ciliated sensory neurons Senti (2008)
    28 - 3171 94.14 833 - Robert (2007)
    26 - 2942 93.1 824 - Robert (2007)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve tetratricopeptide repeat motifs, essential for localization in centrosome (Robert 2007)
  • HOMOLOGY
    interspecies ortholog to murine Tg737 (TgN373Rpw)
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • remains associated to the centrosome in a proliferative stateand is tightly associated with the centrosome throughout the cell cycle in a microtubule- and dynein-independent manner (Robert 2007)
  • basic FUNCTION
  • required for assembly of renal cilium (in mouse)
  • structural constituent of the ribosome, required for Hedgehog (Hh) response
  • required for establishing epithelial polar cell polarity and for convergent extension of the cochlear duct
  • having functions in a ciliogenic pathway or in cilia maintenance (Taulman 2001)
  • playing an essential role for ciliogenesis, and also crucial for G1-S transition in non-ciliated cells (Robert 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS excretion
    text osmoregulation
    PATHWAY
    metabolism
    signaling
    a component component of the intraflagellar transport (Robert 2007)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in hepatocellular carcinoma
    constitutional       loss of function
    leads to misorientation of stereociliary bundles and to shortening and widening of the cochlea and its sensory organ
    constitutional     --over  
    prevents G1-S transition and induces apoptotic cell death (Robert 2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene recessive polycystic kidney disease and other recessive renal diseases
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transgenic mice containing an insertional mutation in Tg373 (Moyer,94)
  • C. elegans daf-19 mutant worms can thus serve as a molecular model for the mechanisms of functional neuronal decline seen in many human neurodegenerative disorders (Senti 2008)