Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol IFT88 contributors: npt/mct - updated : 07-09-2016
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 124.99 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 2008 18843046
    28 - 3424 94.14 833 - 2008 18843046
    26 - 3195 93.1 824 - 2008 18843046
    27 - 3523 - 833 - 2008 18843046
    25 - 3138 - 805 - 2008 18843046
    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
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid Homo sapiens
    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,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microfilament
    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)
  • is present in the Golgi of spermatids
  • 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)
  • the microtubule-associated golgin TRIP11 and IFT88 participate in acrosome, head-tail coupling apparatus (HTCA), and tail biogenesis, and defective intramanchette transport of cargos disrupts spermatid tail development
  • is required for spindle orientation in mitosis
  • visual pigments transport to the retinal outer segment despite removal of KIF3A and IFT88, and KIF3A-mediated anterograde IFT88 is responsible for photoreceptor transition zone and axoneme formation
  • intraflagellar transport protein, critical for the cilium, and required for the maintenance of chondrocytes and cartilage
  • is a central component of the intraflagellar transport (Ift) complex B, essential for the building of cilia and flagella from single cell organisms to mammals
  • extraciliary function for IFT88
  • ciliary protein IFT88 regulates fundamental actin organisation and the stiffness of the actin cortex leading to alterations in cell deformation, mechanical properties and blebbing in an IFT88 chondrocyte cell line
  • 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
  • IFT88 and primary cilia regulate expression of SFRP5 and WNT signaling pathways in growth plate via regulation of IHH signaling
  • TGFB1 regulates IFT88 gene expression at least in part via posttrascriptional manner
  • 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)
    constitutional       loss of function
    results in the absence of cilia and causes left-right asymmetry defects, disordered Hedgehog signaling, and polycystic kidney disease, all of which are explained by aberrant ciliary function
    constitutional       loss of function
    may play an important role in malignant transformation of fetal liver stem/progenitor cells (FLSPCs)
    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)
  • spermatids of the Ift88 mouse mutant display abnormal head shaping and are tail-less
  • Ift88(-/-) mice are completely sterile