CEP83 Gene Summary [Human]
The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | CEP83 |
| Official Name | centrosomal protein 83 [Source:HGNC Symbol;Acc:HGNC:17966] |
| Ensembl ID | ENSG00000173588 |
| Bio databases IDs | |
| Aliases | centrosomal protein 83 |
| Synonyms | 2600001G24Rik, 4921537D05Rik, 5730513H21Rik, CCDC41, centrosomal protein 83, NPHP18, NY-REN-58, RGD1359593 |
| 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 CEP83 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ciliary transition fiber
- centrosome
- Golgi Apparatus
- centriole
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CEP83 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- establishment of centrosome localization
- vesicle docking
- protein localization to centrosome
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- cytosol
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- protein binding