7nwj | pdb_00007nwj

Solution NMR structure of the N-terminal domain of CEP164 (1-109)

spinqualitylabelsall models 7nwj Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 7nwj is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance. Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease CE164_HUMAN Senior-Loken syndrome. The disease is caused by variants affecting the gene represented in this entry. Function CE164_HUMAN Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. Publication Abstract from PubMed Cilia formation is essential for human life. One of the earliest events in the ciliogenesis program is the recruitment of tau-tubulin kinase 2 (TTBK2) by the centriole distal appendage component CEP164. Due to the lack of high-resolution structural information on this complex, it is unclear how it is affected in human ciliopathies such as nephronophthisis. Furthermore, it is poorly understood if binding to CEP164 influences TTBK2 activities. Here, we present a detailed biochemical, structural, and functional analysis of the CEP164-TTBK2 complex and demonstrate how it is compromised by two ciliopathic mutations in CEP164. Moreover, we also provide insights into how binding to CEP164 is coordinated with TTBK2 activities. Together, our data deepen our understanding of a crucial step in cilia formation and will inform future studies aimed at restoring CEP164 functionality in a debilitating human ciliopathy. Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.,Rosa E Silva I, Bino L, Johnson CM, Rutherford TJ, Neuhaus D, Andreeva A, Cajanek L, van Breugel M Structure. 2021 Sep 7. pii: S0969-2126(21)00302-6. doi:, 10.1016/j.str.2021.08.007. PMID:34499853 From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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