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FLASH GENE
Symbol IFT27 contributors: mct - updated : 29-08-2017
HGNC name intraflagellar transport 27
HGNC id 18626
Corresponding disease
BBS19 Bardet-Biedl syndrome 19
Location 22q12.3      Physical location : 37.154.246 - 37.172.172
Synonym name
  • RAB, member of RAS oncogene family-like 4
  • rab-like protein 4
  • Synonym symbol(s) RAYL, BBS19, RABL4
    DNA
    TYPE functioning gene
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1101 - 185 - 2014 25443296
    7 - 1104 - 186 - 2014 25443296
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    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,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    basic FUNCTION
  • GTPase-competent IFT27 is required for association to the IFT complex and plays a role in the cargo loading of the retrograde transport machinery
  • IFT27 separates from IFT-B inside cilia to promote ARL6 activation, BBSome coat assembly, and subsequent ciliary exit
  • it is likely that LZTFL1 functions downstream of IFT27 to couple the BBSome to the IFT particle for coordinated removal of patched-1 and Smoothened from cilia during hedgehog signaling
  • is essential for hedgehog signaling but dispensable for ciliogenesis during hair follicle morphogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • subunit of intraflagellar transport (IFT) complex B
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HSPB11 directly interacts with IFT27, and these two proteins likely form a subcomplex (association and disassociation between the subcomplex of HSPB11 and IFT27 and complex B might be involved in the regulation of IFT)
  • IFT52 binds directly to four other IFT-B subunits, IFT81/74/27/HSPB11
  • IFT27 directly interacts with the nucleotide-free form of ARL6
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS19
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hair follicle morphogenesis of Ift27-null mice was severely impaired, reminiscent of phenotypes observed in cilia and Hh mutants