Version 5.4
Homo sapiens Protein: CCDC50
Summary
InnateDB Protein IDBP-245627.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCDC50
Protein Name coiled-coil domain containing 50
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000376250
InnateDB Gene IDBG-69803 (CCDC50)
Protein Structure
UniProt Annotation
Function Involved in EGFR signaling. {ECO:0000269PubMed:15314609}.
Subcellular Localization Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus. {ECO:0000250}.
Disease Associations Deafness, autosomal dominant, 44 (DFNA44) [MIM:607453]: A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. {ECO:0000269PubMed:17503326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. {ECO:0000269PubMed:14527723}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IVM0
PhosphoSite PhosphoSite-Q8IVM0
TrEMBL
UniProt Splice Variant
Entrez Gene 152137
UniGene Hs.608697
RefSeq NP_848018
HUGO HGNC:18111
OMIM 611051
CCDS CCDS33912
HPRD 06463
IMGT
EMBL AJ416916 AJ557013 BC065004
GenPept AAH65004 CAC95196 CAD89526

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