CEP290 Gene Summary [Human]
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | CEP290 |
| Official Name | centrosomal protein 290 [Source:HGNC Symbol;Acc:HGNC:29021] |
| Ensembl ID | ENSG00000198707 |
| Bio databases IDs | |
| Aliases | centrosomal protein 290, Joubert syndrome 5, nephrocystin-6, cancer/testis antigen 87, POC3 centriolar protein homolog (Chlamydomonas), Meckel syndrome, type 4, Bardet-Biedl syndrome 14 |
| Synonyms | 3H11, 3H11Ag, b2b1454Clo, b2b1752Clo, BBS14, centrosomal protein 290, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, RGD1311640, SLSN6 |
| 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 CEP290 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
- chromosome segregation protein SMC, primarily archaeal type
- transcription regulator
- exonuclease SbcC
- Coiled-coil region of centrosome protein CE290
- rad50
- helix-rich Mycoplasma protein
- protein binding
- identical protein binding
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- RIM-binding protein of the cytomatrix active zone
- Coiled-coil domain-containing protein 158
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- Meckel syndrome type 4
- Bardet-Biedl syndrome type 14
- Joubert syndrome type 5
- Leber congenital amaurosis type 10
- hereditary disorder
- Leber congenital amaurosis type 1
- mental retardation
- Leber congenital amaurosis
- Joubert syndrome related disorder
role in cell
- assembly
- development
- organization
- maintenance
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
- ciliary transition zone
- centriolar satellite
- secretory granule lumen
- cell surface
- Extracellular Space
- pericentriolar regions
- Nucleus
- basal bodies
- centrosome
- centriole
- cytosol
- connecting cilia
- photoreceptor outer segments
- photoreceptor inner segments
- dendritic knobs
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CEP290 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pronephros development
- positive regulation of intracellular protein transport
- cilium morphogenesis
- positive regulation of transcription, DNA-dependent
- kidney development
- hindbrain development
- otic vesicle formation
- protein transport
- camera-type eye development
- eye photoreceptor cell development
- regulation of establishment of protein localization
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- cilium basal body
- specific granule lumen
- centriolar satellite
- extracellular region
- nucleus
- centrosome
- centriole
- cytoplasm
- membrane
- cytosol
- macromolecular complex
- ciliary transition zone
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- microtubule minus-end binding