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FLASH GENE
Symbol CEP89 contributors: mct - updated : 30-04-2013
HGNC name centrosomal protein 89kDa
HGNC id 25907
Location 19q13.11      Physical location : -
Synonym name
  • coiled-coil domain-containing protein 123, mitochondrial
  • Synonym symbol(s) FLJ14640, CCDC123
    DNA
    TYPE functioning gene
    STRUCTURE 92.97 kb     19 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2609 89 783 - Hahn (2006)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two coiled coil domains
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • present both in the cytosol and in the mitochondrial intermembrane space
  • basic FUNCTION
  • distal appendages component essential for ciliogenesis
  • plays a role in non-associative jump-reflex habituation
  • plays a role in the late assembly steps of complex IV
  • role for CEP89 in mitochondrial metabolism
  • required for mitochondrial integrity, membrane depolarization and synaptic transmission of photoreceptor neurons, and for (sub)synaptic organization of the larval neuromuscular junction
  • play an important role in mitochondrial metabolism, especially complex IV activity, and are required for neuronal and cognitive function across evolution
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CEP83 recruits both SCLT1 and CEP89 to centrioles
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS