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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
a) Joubert syndrome type 5
b) Senior-Loken syndrome type 6
- defects in CEP290 are the cause of
a) Leber congenital amaurosis type 10
b) Meckel syndrome type 4
c) 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
General
phosphoprotein
Properties
SIZE: entity length = 2479 aa
MW = 290 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: coiled coil {59-565}
coiled coil {598-664}
coiled coil {697-931}
coiled coil {958-1027}
coiled coil {1071-1498}
MOTIF: Ser phosphorylation site {S1209}
coiled coil {1533-1584}
coiled coil {1635-2452}
MOTIF: Ser phosphorylation site {S1697}
Ser phosphorylation site {S2395}
Database Correlations
OMIM correlations
MORBIDMAP 610142
UniProt O15078
Entrez Gene 80184
Kegg hsa:80184
References
- UniProt :accession O15078
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CEP290