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FLASH GENE
Symbol CEP83 contributors: mct - updated : 18-06-2017
HGNC name centrosomal protein 83kDa
HGNC id 17966
Corresponding disease
NPHP18 nephronophthisis 18
Location 12q22      Physical location : -
Synonym name
  • NY-REN-58 antigen
  • renal carcinoma antigen NY-REN-58
  • coiled-coil domain containing 41
    • Synonym symbol(s) NY-REN-58, MGC149726, CCDC41
    DNA
    TYPE functioning gene
    STRUCTURE 182.23 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    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
  • RABL2A, RABL2B recruitment to the mother centriole is dependent on the distal appendage proteins CEP164 and CEP83
    • 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