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FLASH GENE
Symbol IFT74 contributors: mct - updated : 29-08-2017
HGNC name intraflagellar transport 74 homolog (Chlamydomonas)
HGNC id 21424
Corresponding disease
BBS20 Bardet-Biedl syndrome 20
Location 9p21.2      Physical location : 26.947.036 - 27.062.923
Synonym name
  • capillary morphogenesis protein 1
  • coiled-coil domain containing 2
  • Synonym symbol(s) CMG1, FLJ22621, MGC111562, CCDC2, BBS20
    DNA
    TYPE functioning gene
    STRUCTURE 119.09 kb     20 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 2139 - 600 - 2013 23990561
    20 - 2183 - 600 - 2013 23990561
    20 - 2175 - 600 - 2013 23990561
    20 - 1571 - 372 - 2013 23990561
    - - 6021 - 561 - 2013 23990561
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear    
    Reproductivemale systemtestis    Mus musculus
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatocyte Mus musculus
    Reproductivespermatogonia Mus musculus
    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 ( , and N terminus of IFT74 may be involved in, but is not required for, tubulin entry into flagella, but is required for association of IFT-A and IFT-B at the base of the flagellum and flagellar import of IFT-A
  • coiled-coil domains
  • two tyrosine phosphorylation sites, one for cAMP/cGMP proteine kinase
  • HOMOLOGY
    interspecies homolog to murine Ift74 (86.3pc)
    homolog to rattus Ift74 (87.5pc)
    homolog to the intraflagellar transport protein IFT-74/72 of Chlamydomonas
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    basic FUNCTION
  • serves potentially as a transcriptional regulator of proliferation and adhesion-associated genes in early stage male germ-line cells in the testis
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IFT52 binds directly to four other IFT-B subunits, IFT81/74/27/HSPB11
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS20
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS