7nwj

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==Solution NMR structure of the N-terminal domain of CEP164 (1-109)==
==Solution NMR structure of the N-terminal domain of CEP164 (1-109)==
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<StructureSection load='7nwj' size='340' side='right'caption='[[7nwj]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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<StructureSection load='7nwj' size='340' side='right'caption='[[7nwj]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[7nwj]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7NWJ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7NWJ FirstGlance]. <br>
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<table><tr><td colspan='2'>Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7NWJ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7NWJ FirstGlance]. <br>
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</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7nwj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7nwj OCA], [https://pdbe.org/7nwj PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7nwj RCSB], [https://www.ebi.ac.uk/pdbsum/7nwj PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7nwj ProSAT]</span></td></tr>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7nwj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7nwj OCA], [https://pdbe.org/7nwj PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7nwj RCSB], [https://www.ebi.ac.uk/pdbsum/7nwj PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7nwj ProSAT]</span></td></tr>
</table>
</table>
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== Disease ==
 
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[[https://www.uniprot.org/uniprot/CE164_HUMAN CE164_HUMAN]] Senior-Loken syndrome. The disease is caused by variants affecting the gene represented in this entry.
 
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== Function ==
 
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[[https://www.uniprot.org/uniprot/CE164_HUMAN 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.<ref>PMID:17954613</ref> <ref>PMID:18283122</ref> <ref>PMID:23348840</ref>
 
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<div style="background-color:#fffaf0;">
 
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== Publication Abstract from PubMed ==
 
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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.
 
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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<ref>PMID:34499853</ref>
 
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
 
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</div>
 
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<div class="pdbe-citations 7nwj" style="background-color:#fffaf0;"></div>
 
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== References ==
 
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<references/>
 
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Breugel, M van]]
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[[Category: Rutherford TJ]]
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[[Category: Rutherford, T J]]
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[[Category: Van Breugel M]]
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[[Category: Centriolar protein]]
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[[Category: Ciliopathy]]
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[[Category: Protein binding]]
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[[Category: Ttbk2 binding]]
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Current revision

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

PDB ID 7nwj

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