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FLASH GENE
Symbol CLUAP1 contributors: mct/npt - updated : 29-08-2017
HGNC name clusterin associated protein 1
HGNC id 19009
Location 16p13.3      Physical location : 3.550.962 - 3.587.669
Synonym name
  • cDNA sequence,expressed in brain,68kDa
  • cilia and flagella associated protein 22
  • flagellar associated protein 22, qilin-like protein, homolog
  • Synonym symbol(s) FLJ13297, KIAA0643, IFT38, FAP22, CFAP22
    DNA
    TYPE functioning gene
    STRUCTURE 43.49 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4158 47 413 - Ishikura (2007)
    twelve exons encoding isoform 1
    8 - 3616 28 247 - Ishikura (2007)
    - - 4229 - 432 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
     thyroid   highly
    Hearing/Equilibriumear   highly
    Nervousbrain    
    Reproductivefemale systemovary  highly
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, S, G2, M
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil domain
  • HOMOLOGY
    interspecies homolog to murine Cluap1
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • is a ciliary protein and is preferentially localized at the base and tip of cilia
  • basic FUNCTION
  • is a key regulator of hedgehog signaling and an intraflagellar transport B complex protei
  • CLUAP1 contributes to ciliogenesis by regulating the intraflagellar transport (IFT) cycle at the base and tip of the cilium
  • is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye
  • required for ciliogenesis and cilia maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • intraflagellar transport proteins IFT172, IFT80, IFT57, TRAF3IP1, CLUAP1, and IFT20 form a stable tubulin-binding IFT-B2 complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    frequently upregulated in colon cancer
    tumoral     --over  
    in osteosarcoma tissue samples and cell lines, in ovarian, colon, and lung cancers
    constitutional germinal mutation      
    biallelic mutations in CLUAP1 resulted in a novel ciliopathy syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • CLUAP1 is a candidate Leber congenital amaurosis (LCA) gene
  • Marker
    Therapy target
  • may conceivably serve in the future as a novel therapeutic intervention for treatment of colon cancer
  • useful as a prognostic/diagnostic marker and/or for a target of immunotherapy of osteosarcoma
  • ANIMAL & CELL MODELS
  • Cluap1-/- embryos died mid-gestation manifesting impairment of ciliogenesis in various regions including the node and neural tube