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FLASH GENE
Symbol CEP63 contributors: mct/npt/pgu - updated : 29-09-2015
HGNC name centrosomal protein 63kDa
HGNC id 25815
Corresponding disease
SCKL6 Seckel syndrome 6
Location 3q22.2      Physical location : 134.204.574 - 134.293.852
Synonym name Cep63 protein
Synonym symbol(s) FLJ13386, MGC78416
DNA
TYPE functioning gene
STRUCTURE 89.28 kb     16 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 5326 58 495 - 2003 14654843
12 - 1906 55.5 475 - 2003 14654843
isoform d
13 - 5392 63 541 - 2003 14654843
16 - 6054 81.2 703 - 2003 14654843
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 salivary gland   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY DNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text
  • centrosomal protein
  • CEP63 and CEP152 co-localize in a discrete ring around the proximal end of the parental centriole
    • basic FUNCTION
  • coordinates centrosome-dependent assembly of spindle structures
  • loss of CEP63 may contribute to the occurrence of genome instability typical of aggressive cancers
  • centrosomal recruitment factor for CDK1 essential for mitotic entry, providing a physical link between the centrosome and the cell-cycle machinery
  • CEP152 and CEP63 are essential for maintaining normal centrosome numbers in cells
  • CEP63 functions to ensure that centriole duplication occurs reliably in dividing mammalian cells
  • centrosomal protein that facilitates centriole duplication and is regulated by the DNA damage response
  • is required for maintaining normal centriole duplication and control of cell cycle progression
  • is likely particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • CEP63-CEP152 MCPH complex is an essential part of the molecular machinery controlling centrosome numbers
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ATM and ATR target required for normal spindle assembly
  • interacts with DISC1
  • binds to and recruits CDK1 to centrosomes, and thereby regulates mitotic entry
  • CEP63 forms a protein complex with CEP152
  • interaction between CEP63 and CEP152 can occur independently of centrosome localisation and the two proteins are dependent on one another for centrosomal localisation
  • KIAA0753 positively regulates centriole duplication and CEP63 centrosome localization
  • CDK5RAP2, CEP152, WDR62 and CEP63 colocalize at the centrosome, and they interact to promote centriole duplication
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCKL6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in invasive bladder tumours
    constitutional       loss of function
    severely impairs meiotic recombination, leading to profound male infertility
    Susceptibility to developmental dyslexia
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cep63-deficient mice recapitulate Seckel syndrome pathology