CEP63

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Full Name

Centrosomal Protein 63

Function

Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806).
Also recruits CDK1 to centrosomes (PubMed:21406398).
Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398).

Biological Process

Cell division Source: UniProtKB-KW
Centriole replication Source: UniProtKB
Ciliary basal body-plasma membrane docking Source: Reactome
De novo centriole assembly involved in multi-ciliated epithelial cell differentiation Source: GO_Central
DNA damage checkpoint Source: UniProtKB
G2/M transition of mitotic cell cycle Source: Reactome
Regulation of G2/M transition of mitotic cell cycle Source: Reactome
Signal transduction in response to DNA damage Source: UniProtKB
Spindle assembly Source: UniProtKB

Cellular Location

Centrosome; Centriole; Centriolar satellite. Colocalizes with CDK5RAP2, CEP152 and WDR62 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles.

Involvement in disease

Seckel syndrome 6 (SCKL6): A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.