Protein
Gene:
CEP290 (official gene symbol)Other symbol:
CEP290CT family:
CT87CT identifier:
CT87Aliases from NCBI:
3H11Ag , FLJ13615 , FLJ21979 , JBTS5 , JBTS6 , KIAA0373 , LCA10 , MKS4 , NPHP6 , rd16 , SLSN6RefSeq :
Protein Names (UNIPROT)
Centrosomal protein of 290 kDa
Cellular localization
| Subcellular Localization | Cell type | Methodology | PMID |
|---|---|---|---|
| cytoplasm and nuclei | COS-7 cell line | Immunofluorescence | 15474516 |
| centriole ( pericentriolar matrix) | HEK-293 embryonic kidney cell line | Immunofluorescence | 16682970 |
| base of the cilia | IMCD-3 mouse kidney ciliated cell line | Immunofluorescence | 16682970 |
| centrosome | KE37 lymphoblastic cel line | Indirect immunofluorescence | 14654843 |
| centrosome and nucleus | renal epithelial cells and | Immunofluorescence | 16682973 |
| centrioles and basal bodies (cilium) | RPE-1 hTERT immortalized human retinal pigment epithelial cel line | Immunofluorescence | 18694559 |
Protein function and interaction
CEP290 is a centrosomal protein which may have an important role in the microtubule organization and ciliogenesis. CEP290 interacts with and modulates the activity of ATF4 (Cyclic AMP-dependent transcription factor ATF-4) (Sayer et al, 2006 PMID: 16682973). Yeast two-hybrid screen showed the interaction between DISC1 (disrupted in schizophrenia 1), KIAA0373 (CEP290) and ATF4 (Millar et al., 2004 PMID: 14623284). Physical and functional interactions between CEP290 and PCM-1 (pericentriolar material 1 protein) were observed (Kim et al., 2008 PMID: 18772192). CEP290 interacts with CP110 (Centriolin) and Rab8a (Ras-related protein Rab-8A) a small GTPase required for cilia assembly (Tsang et al., 2008 PMID: 18694559).
CEP290 mutations are associated with Joubert syndrome (JS), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), Senior-Loken syndrome 6 (SLSN6) and Leber congenital amaurosis type 10 (LCA10).
Domain analysis
