CEP250 Gene Summary [Human]
This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | CEP250 |
| Official Name | centrosomal protein 250 [Source:HGNC Symbol;Acc:HGNC:1859] |
| Ensembl ID | ENSG00000126001 |
| Bio databases IDs | |
| Aliases | centrosomal protein 250 |
| Synonyms | B230210E21RIK, Centrosomal protein 2, centrosomal protein 250, CEP2, C-NAP1, CRDHL2, Inmp, RGD1562262 |
| 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 CEP250 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitotic checkpoint protein
- Crescentin protein
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Synaptonemal complex protein 1 (SCP-1)
- rad50
- Myosin tail
- helix-rich Mycoplasma protein
- coiled-coil domain
- protein domain specific binding
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- Ciliary rootlet component, centrosome cohesion
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- Trichohyalin-plectin-homology domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- Usher syndrome
- cone-rod dystrophy and hearing loss 2
- hearing loss
- retinal dystrophy
role in cell
- cleavage
- disruption
- assembly
- cohesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- basal bodies
- centrosome
- centriole
- cytosol
- photoreceptor outer segments
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CEP250 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of centriole-centriole cohesion
- detection of light stimulus involved in visual perception
- cilium morphogenesis
- centriole-centriole cohesion
- protein localization
- protein localization to organelle
- protein localization to centrosome
- mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- centrosome
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- microtubule organizing center
- centriole
- cilium basal body
- cytosol
- macromolecular complex
- photoreceptor inner segment
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding