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FLASH GENE
Symbol CEP83 contributors: mct - updated : 18-06-2014
HGNC name centrosomal protein 83kDa
HGNC id 17966
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
Lymphoid/Immunethymus   highly
Reproductivemale systemtestis  moderately
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • coiled-coil domains
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • specifically localizes to the distal end of the mother centriole
  • colocalizes with intraflagellar transport protein 20 (IFT20) subunit of the intraflagellar transport particle at the Golgi complex
  • basic FUNCTION
  • required for the recruitment of the other components, including its partner CEP164/NPHP15, to the mother centriole
  • is required for the docking of ciliary vesicles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with centrosomal protein 164 (CEP164), a distal appendage component
  • specifically localizes to the distal end of the mother centriole and interacts with CEP164, a distal appendage component
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP18
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    loss of CEP83 specifically blocks centriole-to-membrane docking
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS