Entity Details

Primary name CCDC8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H0W5
EntryNameCCDC8_HUMAN
FullNameCoiled-coil domain-containing protein 8
TaxID9606
Evidenceevidence at protein level
Length538
SequenceStatuscomplete
DateCreated2004-07-19
DateModified2021-06-02

Ontological Relatives

GenesCCDC8

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007088 regulation of mitotic nuclear division
GO:0010923 negative regulation of phosphatase activity
GO:0043687 post-translational protein modification
GO:1990393 3M complex

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR026523 Paraneoplastic antigen MaFamilyFamily

Diseases

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Disease IDSourceNameDescription
614205 OMIM3M syndrome 3 (3M3)A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. The disease is caused by variants affecting the gene represented in this entry.