Entity Details

Primary name CEP83_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y592
EntryNameCEP83_HUMAN
FullNameCentrosomal protein of 83 kDa
TaxID9606
Evidenceevidence at protein level
Length701
SequenceStatuscomplete
DateCreated2006-05-16
DateModified2021-06-02

Ontological Relatives

GenesCEP83

GO terms

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GOName
GO:0005794 Golgi apparatus
GO:0005814 centriole
GO:0005829 cytosol
GO:0042802 identical protein binding
GO:0048278 vesicle docking
GO:0051660 establishment of centrosome localization
GO:0060271 cilium assembly
GO:0071539 protein localization to centrosome
GO:0097539 ciliary transition fiber
GO:0097711 ciliary basal body-plasma membrane docking

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR029631 Centrosomal protein of 83kDaFamilyFamily

Diseases

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Disease IDSourceNameDescription
615862 OMIMNephronophthisis 18 (NPHP18)An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients. The disease is caused by variants affecting the gene represented in this entry.