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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
Corresponding disease
CETD cranioectodermal dysplasia
SRTD12 short-rib thoracic dysplasia 12
Location 3q22.1      Physical location : 129.158.967 - 129.239.190
Synonym name
  • WD repeat domain 10
  • intraflagellar transport 122 homolog
  • WD repeat-containing protein 140
  • Synonym symbol(s) SPG, WDR140, WDR10, WDR10p, CED, CED1, FAP80, FAP9, RABL5
    DNA
    TYPE functioning gene
    STRUCTURE 80.28 kb     31 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 splicing 4182 140 1292 - 2018 29220510
    isoform 1
    30 splicing 4029 141.7 1241 - 2018 29220510
  • 30 exons
  • lacking one in-frame exon near the 5' end, as compared to variant 1
  • isoform 2
  • 29 splicing 3837 134.8 1182 - 2018 29220510
  • lacking two in-frame exons within the 5' region, as compared to variant 1
  • isoform 3
  • 27 splicing 3717 129.2 1131 - 2018 29220510
  • lacking four in-frame exons in the 5' region, as compared to variant 1
  • isoform 4
  • 31 - 4226 - 1091 - 2018 29220510
    30 - 4054 - 1234 - 2018 29220510
    28 - 3819 - 1032 - 2018 29220510
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    endocrinebraindiencephalonpituitary highly
    Reproductivemale systemtestis  predominantly
    Respiratoryrespiratory tracttrachea   
    cell lineage
    cell lines leukemia cell lines
    fluid/secretion
    at STAGE
    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