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FLASH GENE
Symbol CEP120 contributors: mct - updated : 17-09-2016
HGNC name centrosomal protein 120kDa
HGNC id 26690
Corresponding disease
JBTS31 Joubert syndrome 31
SRPS8 short rib-polydactyly syndrome, type VIII
Location 5q23.2      Physical location : 122.680.579 - 122.759.286
Synonym name coiled-coil domain containing 100
Synonym symbol(s) FLJ36090, DKFZp686I06246, FLJ38327, CCDC100, SRTD13
DNA
TYPE functioning gene
STRUCTURE 78.71 kb     21 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 4728 - 986 - 2014 25251415
  • isoform 1
  • 20 - 4647 - 960 - 2014 25251415
  • isoform 2
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal microtubule-binding domain,
  • a centriolar localization domain
  • a coiled-coil domain
  • a C-terminal dimerization domain
  • HOMOLOGY
    interspecies homolog to murine Cep120 (89.8pc)
    homolog to rattus Cep120 (90.7pc)
    Homologene
    FAMILY
  • CEP120 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • centrosomal protein CEP120 is asymmetrically localized to the daughter centriole through its interaction with KIAA0586
  • increased gradually from early S to G2/M and decreased significantly after mitosis
  • localizes preferentially to the daughter centriole in cycling cells, and this asymmetry between mother and daughter centrioles is relieved coincident with new centriole assembly
  • basic FUNCTION
  • fonctioning in the microtubule-dependent coupling of the nucleus and the centrosome
  • is required for centriole duplication (Hutchins 2010)
  • involved in the process that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development
  • is required for centriole assembly and that the observed defect in neuronal migration might derive from a defect in this process
  • also involved in the migration and self-renewal of neural progenitors
  • shared function for CENPJ, CEP120, SPICE1 in centriole length control
  • is a cell cycle-regulated protein that directly interacts with CENPJ and is required for centriole duplication
  • is a CENPJ-interacting protein that positively regulates centriole elongation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CCDC52 (Hutchins 2010)
  • interacting with TACC2, TACC3
  • CEP120 and SPICE1 are required to localize CEP135 to procentrioles
  • CEP120 and SPICE1 cooperate with CENPJ in centriole elongation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRPS8 , JBTS31
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    of the centrosomal protein CEP120 impairs microtubule organization, resulting in increased centrosome motility
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutations in this gene result in neurogenic defects
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cep120 null mutant mice die in early gestation with abnormal heart looping