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Gene Review

CCDC50  -  coiled-coil domain containing 50

Homo sapiens

Synonyms: C3orf6, Coiled-coil domain-containing protein 50, DFNA44, Protein Ymer, YMER, ...
 
 
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Disease relevance of CCDC50

 

High impact information on CCDC50

  • Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein [2].
  • Ymer is found to be phosphorylated at tyrosine 145 and 146 upon EGF stimulation, and lysine 129 of Ymer has been identified as a ubiquitination site [2].
  • Ymer has two motifs interacting with the ubiquitin (MIU) domains that might function as a binding site for the ubiquitinated EGF receptor [2].
  • Phosphorylated Ymer is mainly located at the plasma membrane with EGF receptor and functions in its endocytosis and degradation [2].
  • C3orf6 gene is organised on 12 exons and the shorter transcript comes from an alternative splicing event skipping exon 6 [1].
 

Biological context of CCDC50

 

Analytical, diagnostic and therapeutic context of CCDC50

  • Based on computational "spliced" EST alignment and RT-PCR, two C3orf6 transcript variants were identified [1].

References

  1. Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28. Vazza, G., Picelli, S., Bozzato, A., Mostacciuolo, M.L. Gene (2003) [Pubmed]
  2. Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein. Tashiro, K., Konishi, H., Sano, E., Nabeshi, H., Yamauchi, E., Taniguchi, H. J. Biol. Chem. (2006) [Pubmed]
 
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