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FLASH GENE
Symbol CEP72 contributors: mct/npt - updated : 04-01-2017
HGNC name centrosomal protein 72kDa
HGNC id 25547
Location 5p15.33      Physical location : 612.404 - 653.664
Synonym name Cep72 protein
Synonym symbol(s) KIAA1519, FLJ10565, MGC5307
DNA
TYPE functioning gene
STRUCTURE 41.26 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 2427 71.6 647 - Oshimori (2009)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 intestine    
 pancreas exocrine    
Endocrinepancreas    
Lymphoid/Immunelymph node    
Urinarybladder    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to rattus Cep72 (67.1pc)
homolog to murine Cep72 (67.2pc)
Homologene
FAMILY
  • leucine-rich-repeat (LRR) superfamily
  • CEP72 family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    basic FUNCTION
  • key protein essential for maintaining microtubule-organizing activity and structural integrity of the centrosome )
  • also involved in gammatubulin ring complexes recruitment to the centrosome
  • CEP72 is the key protein essential for maintaining microtubule-organizing activity and structural integrity of the centrosome
  • CEP290 and CEP72 in centriolar satellites regulate the ciliary localization of BBS4, which in turn affects assembly and recruitment of the BBSome
  • represents a putative oncogene in colorectal cancer that might negatively regulate the mitotic function of BRCA1 to ensure chromosomal stability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CEP72 is a Kizuna-interacting protein
  • CEP72 is essential for the localization of AKAP9 and KIZ
  • CEP72 is a PCM1-interacting protein required for recruitment of the ciliopathy-associated protein CEP290 to centriolar satellites
  • CDK5RAP2 interacts with SPAG5 and CEP72
  • CEP72 is a novel BRCA1-interacting protein
  • high levels of CEP72 counteract CHEK2 as a positive regulator of BRCA1 to ensure proper mitotic microtubule assembly
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in early stages of non-small cell lung cancer (Kang 2008)
    constitutional     --over  
    disruption of centriolar satellites by overexpression of CEP72 results in specific aggregation of these proteins and the BBSome component BBS4
    constitutional     --over  
    causes an increase in microtubule plus end assembly, abnormal mitotic spindle formation and the induction of chromosomal instability
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS