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FLASH GENE
Symbol IFT122 contributors: mct/pgu - updated : 16-11-2011
HGNC name intraflagellar transport 122 homolog (Chlamydomonas)
HGNC id 13556
Corresponding disease
CETD cranioectodermal dysplasia
Location 3q22.1      Physical location : 129.158.967 - 129.239.190
Synonym name
  • WD repeat domain 10
  • intraflagellar transport 122 homolog
  • Synonym symbol(s) SPG, WDR140, WDR10, WDR10p
    DNA
    TYPE functioning gene
    STRUCTURE 80.22 kb     31 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 splicing 4182 140 1292 - 2001 11242542
    isoform 1
    30 splicing 4029 141.7 1241 - 2001 11242542
  • 30 exons
  • lacking one in-frame exon near the 5' end, as compared to variant 1
  • isoform 2
  • 29 splicing 3837 134.8 1182 - 2001 11242542
  • lacking two in-frame exons within the 5' region, as compared to variant 1
  • isoform 3
  • 27 splicing 3717 129.2 1131 - 2001 11242542
  • lacking four in-frame exons in the 5' region, as compared to variant 1
  • isoform 4
  • 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     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
  • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CETD
    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