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FLASH GENE
Symbol CCDC151 contributors: mct - updated : 06-10-2014
HGNC name coiled-coil domain containing 151 [Homo sapiens
HGNC id 28303
Corresponding disease
ICS31 immotile cilia syndrome 31
Location 19p13.2      Physical location : 11.531.272 - 11.545.980
DNA
TYPE breakpoint
STRUCTURE 14.56 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2175 - 595 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three highly conserved coiled-coil domains
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localizes to respiratory ciliary axonemes
    • basic FUNCTION
  • is required for proper motile function of cilia in the Kupffer vesicle and in the pronephros by controlling dynein arm assembly, showing that CCDC151 is a novel player in the control of IFT-dependent dynein arm assembly
  • implicated in the regulation of primary cilium length
  • axonemal coiled coil protein
  • requirement for CCDC151 in the correct establishment of left-right asymmetry because loss of CCDC151 function is associated with the randomization of visceral organ positioning
  • essential role of CCDC151 in the specification of ciliary motility during human and vertebrate development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TTC25 is essential for the assembly of all three known ODA- docking complex proteins, CCDC151, CCDC114, or ARMC4
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS31
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Ccdc151-deficient zebrafish, planaria, and mice also display ciliary dysmotility accompanied by outer dynein arm (ODA) loss