CEP290 Antibody - #DF3915

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.

Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause it displacement from centriolar satellites.

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.
Note: 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 satellites is BBsome-dependent (PubMed:23943788).

Ubiquitous. Expressed strongly in placenta and weakly in brain.

Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with ATF4 via its N-terminal region. Associates with the BBSome complex, interacting (via N-terminus) with BBS4. Interacts with IQCB1/NPHP5; IQCB1 and CEP290/NPHP6 are proposed to form a functional NPHP5-6 module localized to the centrosome. Interacts with NPHP4; the interaction likely requires additional interactors. Interacts with ZNF423, FAM161A, CEP162, CEP162, CEP131, TALPID3, CCDC13, CC2D2A, RPGRIP1. Can self-associate (homo- or heteromeric). Interacts with CCP110; required for suppressing cilia formation. Interacts with RPGR (By similarity). Associates (via C-terminus) with microtubules; association to microtubule is reduced in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling. Interacts with FAM161A (By similarity). Interacts with PCM1 (By similarity). Interacts with CCDC66.