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FLASH GENE
Symbol CEP83 contributors: mct - updated : 18-06-2014
HGNC name centrosomal protein 83kDa
HGNC id 17966
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 3182 - 701 - 2013 23530209
17 - .3235 - 701 - 2013 23530209
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