NP_848018.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,340 Da
NCBI Official Full Name
coiled-coil domain-containing protein 50 long isoform
NCBI Official Synonym Full Names
coiled-coil domain containing 50
NCBI Protein Information
coiled-coil domain-containing protein 50
UniProt Protein Name
Coiled-coil domain-containing protein 50
UniProt Synonym Protein Names
Protein Ymer
UniProt Synonym Gene Names
UniProt Entry Name
CCD50_HUMAN
NCBI Summary for CCDC50
This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
UniProt Comments for CCDC50
CCDC50: phosphorylated in response to EGFR signaling in human mammary epithelial cells. Two alternatively-spliced isoforms have been described.
Protein type: Inhibitor
Chromosomal Location of Human Ortholog: 3q28
Cellular Component: cytoplasm
Molecular Function: protein binding; ubiquitin protein ligase binding
Biological Process: sensory perception of sound
Disease: Deafness, Autosomal Dominant 44
Research Articles on CCDC50
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Diseases associated with CCDC50 blocking peptide
Organs/Tissues associated with CCDC50 blocking peptide
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