ID:CCD50_HUMAN DESCRIPTION: RecName: Full=Coiled-coil domain-containing protein 50; AltName: Full=Protein Ymer; FUNCTION: Involved in EGFR signaling. INTERACTION: Q6GQQ9:OTUD7B; NbExp=5; IntAct=EBI-723996, EBI-527784; Q13546:RIPK1; NbExp=2; IntAct=EBI-723996, EBI-358507; P0CG47:UBB; NbExp=2; IntAct=EBI-723996, EBI-413034; SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus (By similarity). 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. PTM: Phosphorylated on tyrosine residues. DISEASE: Defects in CCDC50 are the cause of deafness autosomal dominant type 44 (DFNA44) [MIM:607453]. A form of non-syndromic hearing loss. It is initially moderate and 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. The onset of the hearing loss occurs in the first decade of life. MISCELLANEOUS: Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF15295 - Coiled-coil domain-containing protein 50 N-terminus
ModBase Predicted Comparative 3D Structure on Q8IVM0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
