CEP250

This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Full Name

Centrosomal Protein 250

Function

May be involved in ciliogenesis (PubMed:28005958).
Probably plays an important role in centrosome cohesion during interphase.

Biological Process

Centriole-centriole cohesion Source: UniProtKB
Ciliary basal body-plasma membrane docking Source: Reactome
Cilium assembly Source: UniProtKB
Detection of light stimulus involved in visual perception Source: UniProtKB
G2/M transition of mitotic cell cycle Source: Reactome
Mitotic cell cycle Source: UniProtKB
Non-motile cilium assembly Source: GO_Central
Positive regulation of protein localization to centrosome Source: UniProtKB
Protein localization Source: UniProtKB
Protein localization to organelle Source: UniProtKB
Regulation of centriole-centriole cohesion Source: UniProtKB
Regulation of G2/M transition of mitotic cell cycle Source: Reactome

Cellular Location

Centriole; Centrosome; Cilium basal body; Perinuclear region; Photoreceptor outer segment; Photoreceptor inner segment. Component of the core centrosome. In interphase cells, it specifically associates with the proximal ends of both mother and daughter centrioles. Associates with the centrosome in interphase cells. In mitotic cells, it dissociates from the mitotic spindle poles. At the end of cell division, it reaccumulates at centrosomes.

Involvement in disease

Cone-rod dystrophy and hearing loss 2 (CRDHL2): An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

PTM

Differentially phosphorylated during cell cycle. Phosphorylation may regulate association/dissociation from centrosome. During M phase of mitosis, C-terminal part is phosphorylated by NEK2, suggesting that it may trigger the dissociation from the mitotic centrosome. Dephosphorylated in vitro by the PP1 phosphatase.