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FLASH GENE
Symbol IFT140 contributors: mct - updated : 22-12-2020
HGNC name intraflagellar transport 140 homolog (Chlamydomonas)
HGNC id 29077
Corresponding disease
PKDL1 polycystic kidney disease like 1
RP80 retinitis pigmentosa 80
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, MZSDS, RP80, SRTD9, c305C8.4,
    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 - 2019 31034313
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid    
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemovary  highly
     male systemtestis  highly Mus musculus
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveodontoblast Homo sapiensFetal
    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 immunity/defense , motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    basic FUNCTION
  • regulates retrograde protein transport in ciliated cells
  • pivotal role of IFT140 in proper development and function of ciliated cells
  • IFT140 is required for development and maintenance of outer segments of photoreceptors
  • both IFT43 and IFT140 are involved in mobilizing ciliary precursors from the cytoplasmic pool during flagellar regeneration
  • cilia gene IFT140 is likely essential in promoting dentin formation and reparation
  • likely not only plays a role in sperm flagella assembling, but is also involved in critical assembly of proteins that interface between the germ cell plasma and the Sertoli cell
  • IFT140 may play an important role in the process of chondrogenic and osteogenic differentiation during bone development
  • IFT140-positive cells mainly contribute to the early stage of bone formation
  • is a core component of the intraflagellar transport-complex A, responsible for retrograde ciliary trafficking and ciliary entry of membrane proteins
    • 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
  • subunit of IFT complex A, which is specialized for retrograde transportation in cilia
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RRPAS , RP80 , PKDL1
    Susceptibility to infertility
    Variant & Polymorphism other
  • IFT140 variants that cause infertility
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • expression level was downregulated in the long bones of murine osteoporosis models