Entity Details

Primary name CP250_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BV73
EntryNameCP250_HUMAN
FullNameCentrosome-associated protein CEP250
TaxID9606
Evidenceevidence at protein level
Length2442
SequenceStatuscomplete
DateCreated2003-05-09
DateModified2021-06-02

Ontological Relatives

GenesCEP250

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0008022 protein C-terminus binding
GO:0008104 protein localization
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0010457 centriole-centriole cohesion
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0030997 regulation of centriole-centriole cohesion
GO:0032991 protein-containing complex
GO:0033365 protein localization to organelle
GO:0036064 ciliary basal body
GO:0048471 perinuclear region of cytoplasm
GO:0050908 detection of light stimulus involved in visual perception
GO:0060271 cilium assembly
GO:0070062 extracellular exosome
GO:0097711 ciliary basal body-plasma membrane docking
GO:1904781 positive regulation of protein localization to centrosome
GO:1905515 non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Photoreceptor inner segment

Domains

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Diseases

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Disease IDSourceNameDescription
618358 OMIMCone-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. The disease is caused by variants affecting the gene represented in this entry.