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FLASH GENE
Symbol CEP104 contributors: mct - updated : 09-12-2015
HGNC name centrosomal protein 104
HGNC id 24866
Corresponding disease
JBTS25 Joubert syndrome 25
Location 1p36.32      Physical location : -
Synonym name
  • glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein
  • KIAA0562
  • Synonym symbol(s) RP1-286D6.4, KIAA0562, GLYBP, ROC22, JBTS25, CFAP256
    DNA
    TYPE functioning gene
    STRUCTURE 45.15 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 6458 104 925 - 2008 18710260
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two glycosylation sites
  • three hydrophobic domains
  • four cysteine-rich motifs (C-X2-C-X16-20-C-X5-11)
  • a tubulin-binding TOG (tumor overexpressed gene) domain
  • and a novel C2HC zinc finger array
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • membrane-associated
  • localizes on the distal ends of both centrioles of nondividing cells until the mother centriole forms a cilium and then localizes at the tip of the elongating cilium
  • moves from the mother centriole to the tip of the primary cilium during ciliogenesis
  • localizes on both mother and daughter centrioles in non-ciliated retinal pigment epithelial (RPE1) cells but only on the daughter centriole in ciliated cells
  • basic FUNCTION
  • may be isolated as a soluble or membrane-associated assembly that serves as a structural and functional homologue of the extracellular domain (ECD) of GLRA1
  • likely acts early during cilia formation by regulating the conversion of the mother centriole into the cilia basal body
  • key player in the regulation of cilia formation, and is a novel tubulin-binding protein
  • is a key factor involved in cilia formation and length regulation that rides on the ends of elongating and shrinking cilia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of CEP104 with CCP110, CEP97, end-binding (EB) protein, and tubulin
  • NEK1 competes for binding to CEP104 with the distal centriole-capping protein CCP110
  • cell & other
    REGULATION
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • membrane-associated
  • localizes on the distal ends of both centrioles of nondividing cells until the mother centriole forms a cilium and then localizes at the tip of the elongating cilium
  • moves from the mother centriole to the tip of the primary cilium during ciliogenesis
  • localizes on both mother and daughter centrioles in non-ciliated retinal pigment epithelial (RPE1) cells but only on the daughter centriole in ciliated cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS25
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS