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FLASH GENE
Symbol IFT140 contributors: mct - updated : 16-11-2011
HGNC name intraflagellar transport 140 homolog (Chlamydomonas)
HGNC id 29077
Corresponding disease
RRPAS renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia
Location 16p13.3      Physical location : 1.560.428 - 1.662.109
Synonym name
  • KIAA0590 gene product
  • WD and tetratricopeptide repeats 2
  • Synonym symbol(s) KIAA0590, WDTC2, gs114, FLJ10306, FLJ30571
    DNA
    TYPE functioning gene
    STRUCTURE 101.68 kb     31 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 5277 - 1462 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid    
    Nervousbrain    
    Reproductivefemale systemovary  highly
     male systemtestis  highly
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine TPR repeats
  • five WD repeats
  • HOMOLOGY
    interspecies homolog to murine Ift140 (81.4pc)
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • regulates retrograde protein transport in ciliated cells
  • pivotal role of IFT140 in proper development and function of ciliated cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • IFT-A protein complex consists of IFT43, WDR35, IFT122, TTC21B, IFT140 and WDR19 and is associated with THM1 and TULP3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RRPAS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS