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}. |
Human CEP290 protein fragment - ab164215 from Abcam
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CEP290 Antibody Blocking Peptide - LS-E26641 from LifeSpan Bioscience
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CEP290 Antibody Blocking Peptide - LS-E26961 from LifeSpan Bioscience
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Recombinant Human CEP290 Protein - H00080184-P01 from Novus Biologicals
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CEP290 blocking peptide - GTX88258-PEP from GeneTex
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CEP290 blocking peptide - GTX88808-PEP from GeneTex
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Goat anti CEP290 antibody Immunizing peptide - orb15083 from Biorbyt
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Goat anti CEP290 antibody Immunizing peptide - orb50344 from Biorbyt
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CEP290 Blocking Peptide - abx063986 from Abbexa
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CEP290 Peptide - AC21-1477-P from Abcore
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CEP290 Peptide - AC21-1789-P from Abcore
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CEP290 - H00080184-P01-10 from Acris Antibodies
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CEP290 - H00080184-P01-25 from Acris Antibodies
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CEP290 Peptide - 46-639P from ProSci
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CEP290 Peptide - 42-225P from ProSci
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CEP290 fusion protein - Ag17457 from Proteintech Group
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CEP290 fusion protein - ag16887 from Proteintech Group
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Recombinant Human CEP290, His-tagged - CEP290-11112H from Creative Biomart
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CEP290 Blocking Peptide - CBP2792 from Cohesion Biosciences
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CEP290 (F812) Peptide - BS3831P from Bioworld Technology
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Recombinant Human Centrosomal protein of 290 kDa(CEP290) ,partial - CSB-YP005241HU CSB-EP005241HU CSB-BP005241HU CSB-MP005241HU from Cusabio
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Centrosomal protein of 290 kDa (CEP290), partial, Recombinant Protein - MBS1048599 from MyBioSource
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CEP290, Peptide - MBS659811 from MyBioSource
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CEP290 , Peptide - MBS425126 from MyBioSource
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CEP290/NPHP6, Peptide - MBS428360 from MyBioSource
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