CEP290 rabbit pAb

Centrosomal protein 290 (CEP290) Homo sapiens This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]

CEP290; BBS14; KIAA0373; NPHP6; Centrosomal protein of 290 kDa; Cep290; Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite . Nucleus . Cell projection, cilium . Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole . Cytoplasmic vesicle . Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310) . Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By similarity) . Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23943788) . Localization at the ciliary transition zone as well as at centriolar sa

CEP290; BBS14; KIAA0373; NPHP6; Centrosomal protein of 290 kDa; Cep290; Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2