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FLASH GENE
Symbol IFT122 contributors: mct/pgu - updated : 24-05-2022
HGNC name intraflagellar transport 122 homolog (Chlamydomonas)
HGNC id 13556
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven WD40 domains, which are involved in the formation of beta-propeller structures acting as platform for the association of binding partners
  • an AF-2 domain
  • HOMOLOGY
    interspecies homolog to murine Ift122 (90.7pc)
    homolog to rattus Wdr10 (93.5pc)
    intraspecies homolog to RABL5
    Homologene
    FAMILY
  • WD repeat protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • may be involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation
  • plays an important role in the assembly and maintenance of eukaryotic cilia
  • negatively regulates the SHH pathway in the cilium at a step downstream of the SHH ligand and the transmembrane protein Smoothened, but upstream of the GLI2 transcription factor
  • controls the ciliary localization of Shh pathway regulators in different ways
  • like DYNC2H1, is required for retrograde ciliary trafficking, but reduction of IFT122 gene dosage also suppresses the DYNC2H1 phenotype
  • may not directly carry any precursors for flagellar assembly, but it controls how many IFT particles participate in ferrying precursors into flagella
  • IFT122 is required for the efficient transport of opsin and the distal elongation of outer segments
  • encodes a protein responsible for the retrograde transport along the cilium
  • binding of IFT22 to the intraflagellar transport complex is likely essential for flagellum assembly
  • IFT22 is an active GTPase with low intrinsic GTPase activity
  • nucleotide-dependent recruitment of the BBSome to the basal body by IFT22 regulates BBSome entry into cilia
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, transcription, regulation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    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 directly binds to IFT121/WDR35, which supports a tight relationship between these two proteins
  • IFT122 leads to accumulation of GLI2 and GLI3 at cilia tips while blocking the ciliary localization of the antagonist TULP3
  • IFTAP interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit TTC21B
  • IFT22 binds and stabilizes the Arf-like 6 GTPase BBS3, a BBS protein that is not part of the BBSome
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CETD , SRTD12
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ift122-null embryos show multiple developmental defects (exencephaly, situs viscerum inversus, delay in turning, hemorrhage and defects in limb development) that result in lethality