Product Overview
Description
CEP290 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.
Applications
Antibody Competition
Nature
Recombinant Protein
Sequence
QVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELT
Predicted Molecular Weight
29 kDa
Target Information
Alternative Names
BBS14Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; centrosomal protein 290kDa; Cep290; CT87JBTS6; FLJ13615; JBTS5CTCL tumor antigen se2-2; KIAA0373FLJ21979; LCA10monoclonal 3H11 antigen; MKS4; Nephrocystin-6; NPHP6centrosomal protein of 290 kDa; POC3 centriolar protein homolog; POC3; prostate cancer antigen T21; rd16,3H11AG; SLSN6nephrocytsin-6,3H11Ag; Tumor antigen se2-2
Protein Function
Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium. In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5. Activates ATF4-mediated transcription.
Involvement in Disease
Joubert syndrome 5 (JBTS5); Senior-Loken syndrome 6 (SLSN6); Leber congenital amaurosis 10 (LCA10); Meckel syndrome 4 (MKS4); Bardet-Biedl syndrome 14 (BBS14).
Shipping & Handling
Constituents
PBS and 1M Urea, pH 7.4.
Shipping
Shipped on dry ice.
