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FLASH GENE
Symbol CEP152 contributors: mct - updated : 19-08-2015
HGNC name centrosomal protein 152kDa
HGNC id 29298
Corresponding disease
MCPH9 microcephaly primary 9
SCKL5 Seckel syndrome-5
Location 15q21.1      Physical location : 49.030.135 - 49.103.343
Synonym name
  • Cep152 protein
  • Asterless
  • Synonym symbol(s) KIAA0912, FLJ21594, MCPH4, MCPH9, SCKL5, Asl
    DNA
    TYPE functioning gene
    STRUCTURE 72.84 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 5641 - 1710 - 2010 20598275
    26 - 5478 - 1654 - 2010 20598275
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Drosophila Asl
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    text
  • CEP63 and CEP152 co-localize in a discrete ring around the proximal end of the parental centriole
  • basic FUNCTION
  • essential for cilia formation and its function can be partially rescued by the Drosophila Asl
  • may be having a critical role early in centriole duplication
  • recruits PLK4 and CENPJ to the centrosome to ensure a faithful centrosome duplication process
  • regulator of genomic integrity and cellular response to DNA damage
  • molecular role in the regulation of anaphase/telophase progression possibly through interaction with chromosomal passenger proteins
  • CEP152 and CEP63 are essential for maintaining normal centrosome numbers in cells
  • is not essential for pericentriolar material recruitment or centrosome function in organizing mitotic spindles, and is required for proper basal body function and spermatid axoneme formation
  • 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
  • interacts with the distinctive cryptic Polo-box of PLK4 via its N-terminal domain and is required for PLK4-induced centriole overduplication
  • CEP192 and CEP152 serve as two distinct scaffolds that recruit PLK4 to centrosomes in a hierarchical order, and competitively interacted with the cryptic polo box of PLK4 through their homologous N-terminal sequences containing acidic-alpha-helix and N/Q-rich motifs
  • 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
  • interacting with CEP131
  • CDK5RAP2, CEP152, WDR62 and CEP63 colocalize at the centrosome, and they interact to promote centriole duplication
  • role for CEP152 in controlling centriole length in germline and somatic tissue, functioning via the centriole protein CEP97
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH9 , SCKL5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    CEP152 deficiency leads to an increased number of cells containing multiple nuclei and centrosomes, fragmented centrosomes and an increased frequency of aberrant cell divisions
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS