CCDC50 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CCDC50 |
| Official Name | coiled-coil domain containing 50 [Source:HGNC Symbol;Acc:HGNC:18111] |
| Ensembl ID | ENSG00000152492 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 50 |
| Synonyms | 5730448P06Rik, C3orf6, C3orf6h, coiled-coil domain containing 50, D16Bwg1543e, DFNA44, Hs.478682, YMER |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CCDC50 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- ubiquitin binding domain
- Coiled-coil domain-containing protein 50 N-terminus
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colitis
- autosomal dominant deafness type 44
- preeclampsia
- dextran sodium sulfate-induced colitis
- sporadic age-related sensorineural hearing loss
- familial nonsyndromic hearing impairment
role in cell
- upregulation in
- signaling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- basal bodies
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCDC50 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding