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FLASH GENE
Symbol IFT81 contributors: mct - updated : 29-08-2017
HGNC name intraflagellar transport 81 homolog (Chlamydomonas)
HGNC id 14313
Location 12q24.11      Physical location : 110.562.139 - 110.656.599
Synonym name carnitine deficiency-associated, expressed in ventricle 1
Synonym symbol(s) CDV1R, MGC4027, MGC102777, CDV1, CDV-1, CDV-1R DV1
DNA
TYPE functioning gene
STRUCTURE 94.46 kb     21 Exon(s)
regulatory sequence Binding site   transcription factor
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text using alternative initiation methionine, met1 or met570
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 splicing 3160 79 676 abundantly in testis 2013 23990561
  • variant 1, CDV1R
  • appears to be involved in development of the testis and in the spermatogenesis
  • 12 splicing 2324 50 431 - 2013 23990561
  • variant 2, CDV1
  • may be involved in cardiac hypertrophy caused by carnitine deficiency
  • 19 - 2742 - 676 - 2013 23990561
    - - 1893 - 431 - 2013 23990561
    - - 2566 - 366 - 2013 23990561
    - - 2984 - 366 - 2013 23990561
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   moderately
     pancreas exocrine   moderately
    Endocrinepancreas    
    Nervousbrain   lowly
    Reproductivefemale systemovary  moderately
     female systemplacenta  lowly
     male systemprostate  lowly
     male systemtestis  predominantly
    Respiratorylung   lowly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a calponin-homology domain within the IFT81 N-terminus and the highly basic N-terminus of IFT74 form a module for IFT of tubulin (
  • a putative signal peptide
  • four coiled-coil domains
  • HOMOLOGY
    interspecies homolog to murine Ift81 (92.9pc)
    homolog to rattus Cdv1 (92.7pc)
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text expression level is increased with testis development
    basic FUNCTION
  • may play an important role in sperm maturation
  • tubulin binding by IFT81 was required for ciliogenesis
  • two core IFT proteins IFT74 and IFT81 form a tubulin-binding module
  • together, the IFT81 and IFT74 N-termini are crucial for flagellar assembly, and are likely to function as the main module for IFT of tubulin
  • importance of IFT81 in the skeleton, and role in the anterograde transport complex
  • involved in the bidirectional transport of ciliary proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , reproduction/sex
    text
  • spermatogenesis
  • cell differentiation
  • PATHWAY
    metabolism
    signaling
    a component
  • core component of the IFT-B complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IFT81 and IFT74/72 directly interact to form a higher order oligomer consistent with a tetrameric complex
  • IFT52 binds directly to four other IFT-B subunits, IFT81/74/27/HSPB11
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in nephronophthisis and polydactyly
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate gene for nonsyndromic retinal dystrophy
    Marker
    Therapy target
    ANIMAL & CELL MODELS