centrosomal protein of 290 kD; Cep290; Bardet-Biedl syndrome 14 protein; cancer/testis antigen 87; CT87; nephrocystin-6; tumor antigen se2-2 (CEP290, BBS14, KIAA0373, NPHP6)

Function

• activates ATF4-mediated transcription
• required for correct localization of ciliary & phototransduction proteins in retinal photoreceptor cells;
• may play a role in ciliary transport processes
• interacts with ATF4 via its N-terminal region
• part of centrosomal & microtubule-associated protein complexes
• interacts with CC2D2A

Compartment

• cytoplasm, cytoskeleton, centrosome
• nucleus
• cell projection, cilium
• connecting cilium of photoreceptor cells
• base of cilium in kidney intramedullary collecting duct cells

Alternative splicing

named isoforms=2

Expression

• ubiquitous
• xpressed strongly in placenta
• expressed weakly in brain

Pathology

• defects in CEP290 are a cause of
  • Joubert syndrome type 5
  • Senior-Loken syndrome type 6
• defects in CEP290 are the cause of
  • Leber congenital amaurosis type 10
  • Meckel syndrome type 4
  • Bardet-Biedl syndrome type 14
• antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population

More general terms

• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=80184
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:80184
• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/610142
• OMIM: https://mirror.omim.org/entry/610188
• OMIM: https://mirror.omim.org/entry/610189
• OMIM: https://mirror.omim.org/entry/611134
• OMIM: https://mirror.omim.org/entry/611755
• UniProt: http://www.uniprot.org/uniprot/O15078.html