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FLASH GENE
Symbol IFT43 contributors: mct - updated : 22-12-2020
HGNC name intraflagellar transport 43 homolog (Chlamydomonas)
HGNC id 29669
Corresponding disease
CETD3 cranioectodermal dysplasia 3
RP81 retinitis pigmentosa 81
SRTD18 short-rib thoracic dysplasia 18 with polydactyly
Location 14q24.3      Physical location : -
Synonym name
  • hypothetical protein LOC112752
  • chromosome 14 open reading frame 179
  • Synonym symbol(s) FLJ32173, MGC16028, C14orf179, CETD3, CED3, RP81, SRTD18
    DNA
    TYPE functioning gene
    STRUCTURE 98.31 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 850 23 208 - 2017 28973684
    9 - 865 - 213 - 2017 28973684
    4 - 869 - 113 - 2017 28973684
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx    
    Nervousnerve   highly
    Reproductivefemale systemuterus   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • involved in retrograde IFT (intraflagellar transport)
  • both IFT43 and IFT140 are involved in mobilizing ciliary precursors from the cytoplasmic pool during flagellar regeneration
  • 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
  • RASA1 is required for appropriate cytoplasmic localization of the retrograde IFT-A protein IFT43
  • IFT43 directly interacts with WDR35 and loss of IFT43 results in instability of IFT-A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CETD3 , SRTD18 , RP81
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS