Gene Symbol | CEP290 |
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Entrez Gene | 80184 |
Alt Symbol | 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16 |
Species | Human |
Gene Type | protein-coding |
Description | centrosomal protein 290kDa |
Other Description | Bardet-Biedl syndrome 14 protein|CTCL tumor antigen se2-2|Meckel syndrome, type 4|POC3 centriolar protein homolog|cancer/testis antigen 87|centrosomal protein of 290 kDa|monoclonal antibody 3H11 antigen|nephrocytsin-6|prostate cancer antigen T21|tumor antigen se2-2 |
Swissprots | Q9H6Q7 Q66GS8 Q1PSK5 Q9H8I0 Q9H2G6 O15078 |
Accessions | EAW97413 EAW97414 O15078 AB002371 BAA20828 AF273044 AAG34904 AF317887 AAK01919 AK023677 AK025632 BAB15196 AY590151 AAT01278 BC008641 AAH08641 BC043398 AAH43398 BC156462 AAI56463 BC172566 AAI72566 BK005587 DAA05591 BU676074 DQ109808 AAZ83370 XM_011538756 XP_011537058 XM_011538757 XP_011537059 XM_011538758 XP_011537060 XM_011538759 XP_011537061 XM_011538760 XP_011537062 XM_011538761 XP_011537063 XM_011538762 XP_011537064 XM_011538763 XP_011537065 XM_011538764 XP_011537066 XM_011538765 XP_011537067 XM_011538766 XP_011537068 NM_025114 NP_079390 |
Function | Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973}. |
Subcellular Location | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity). Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. {ECO:0000250}. |
Tissue Specificity | Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:16682973}. |
CEP290 (B-7) - sc-390462 from Santa Cruz Biotechnology
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CEP290 (G-4) - sc-390637 from Santa Cruz Biotechnology
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CEP290 (H-300) - sc-292138 from Santa Cruz Biotechnology
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CEP290 (K-16) - sc-70030 from Santa Cruz Biotechnology
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CEP290 (L-18) - sc-70031 from Santa Cruz Biotechnology
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Anti-CEP290 antibody - ab85728 from Abcam
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Anti-CEP290 antibody - ab84870 from Abcam
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Anti-CEP290 antibody - ab190237 from Abcam
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Anti-CEP290 antibody - ab128231 from Abcam
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Anti-CEP290 antibody - ab110053 from Abcam
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Anti-CEP290 antibody - ab77479 from Abcam
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Anti-CEP290 Antibody (aa2429-2479) - LS-C288447 from LifeSpan Bioscience
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Anti-CEP290 Antibody (aa2429-2479) - LS-C286600 from LifeSpan Bioscience
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Anti-CEP290 Antibody (Phe812) - LS-C177808 from LifeSpan Bioscience
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Anti-CEP290 Antibody (aa771-820) IHC-plus™ - LS-B9714 from LifeSpan Bioscience
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Anti-CEP290 Antibody (Internal) - LS-C61718 from LifeSpan Bioscience
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Anti-CEP290 Antibody (Internal) - LS-C108890 from LifeSpan Bioscience
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Anti-CEP290 Antibody (C-Terminus) - LS-C153392 from LifeSpan Bioscience
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CEP290 Antibody - NB100-86991 from Novus Biologicals
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CEP290 Antibody - NBP2-33406 from Novus Biologicals
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CEP290 Antibody - 44100002 from Novus Biologicals
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CEP290 Antibody - NBP1-52132 from Novus Biologicals
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Anti-CEP290 antibody produced in rabbit - SAB4503198 from Sigma-Aldrich
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Anti-CEP290 antibody produced in goat - SAB2501952 from Sigma-Aldrich
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Anti-CEP290 antibody produced in rabbit - HPA043918 from Sigma-Aldrich
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