Version 5.4
Homo sapiens Protein: CCDC8
Summary
InnateDB Protein IDBP-58734.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCDC8
Protein Name coiled-coil domain containing 8
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000303158
InnateDB Gene IDBG-58732 (CCDC8)
Protein Structure
UniProt Annotation
Function Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695). {ECO:0000269PubMed:24793695, ECO:0000269PubMed:24793696}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:24793695}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:24793695}.
Disease Associations 3M syndrome 3 (3M3) [MIM:614205]: 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. {ECO:0000269PubMed:21737058, ECO:0000269PubMed:23018678}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver. {ECO:0000269PubMed:21737058}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0007088 regulation of mitosis
GO:0010923 negative regulation of phosphatase activity
Cellular Component
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005886 plasma membrane
GO:1990393 3M complex
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H0W5
PhosphoSite PhosphoSite-Q9H0W5
TrEMBL
UniProt Splice Variant
Entrez Gene 83987
UniGene Hs.97876
RefSeq NP_114429
HUGO HGNC:25367
OMIM 614145
CCDS CCDS12685
HPRD 13009
IMGT
EMBL AL136609 BC025243
GenPept AAH25243 CAB66544

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca