Entity Details

Primary name CE152_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO94986
EntryNameCE152_HUMAN
FullNameCentrosomal protein of 152 kDa
TaxID9606
Evidenceevidence at protein level
Length1710
SequenceStatuscomplete
DateCreated2005-03-29
DateModified2021-06-02

Ontological Relatives

GenesCEP152

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000242 pericentriolar material
GO:0005654 nucleoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0007099 centriole replication
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0019901 protein kinase binding
GO:0051298 centrosome duplication
GO:0097711 ciliary basal body-plasma membrane docking
GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation
GO:0098536 deuterosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR029598 Centrosomal protein of 152kDaFamilyFamily

Diseases

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Disease IDSourceNameDescription
613823 OMIMSeckel syndrome 5 (SCKL5)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. The disease is caused by variants affecting the gene represented in this entry.
614852 OMIMMicrocephaly 9, primary, autosomal recessive (MCPH9)A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. The disease is caused by variants affecting the gene represented in this entry.