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6ewp

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Mus musculus CEP120 third C2 domain (C2C)

Structural highlights

6ewp is a 3 chain structure with sequence from Mus musculus. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 1.85Å
Ligands:
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Function

CE120_MOUSE Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis.^[1] ^[2] ^[3]

Publication Abstract from PubMed

Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying disease. Using X-ray crystallography, we show that the ciliopathy-associated centriolar protein CEP120 contains three C2 domains. The point mutations V194A and A199P, which cause Joubert syndrome (JS) and Jeune asphyxiating thoracic dystrophy (JATD), respectively, both reduce the thermostability of the second C2 domain by targeting residues that point toward its hydrophobic core. Genome-engineered cells homozygous for these mutations have largely normal centriole numbers but show reduced CEP120 levels, compromised recruitment of distal centriole markers, and deficient cilia formation. Our results provide insight into the disease mechanism of two ciliopathic mutations in CEP120, identify putative binding partners of CEP120 C2B, and suggest a complex genotype-phenotype relation of the CEP120 ciliopathy alleles.

Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.,Joseph N, Al-Jassar C, Johnson CM, Andreeva A, Barnabas DD, Freund SMV, Gergely F, van Breugel M Cell Rep. 2018 May 29;23(9):2805-2818. doi: 10.1016/j.celrep.2018.04.100. PMID:29847808^[4]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

References

↑ Xie Z, Moy LY, Sanada K, Zhou Y, Buchman JJ, Tsai LH. Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool. Neuron. 2007 Oct 4;56(1):79-93. PMID:17920017 doi:http://dx.doi.org/10.1016/j.neuron.2007.08.026
↑ Hutchins JR, Toyoda Y, Hegemann B, Poser I, Heriche JK, Sykora MM, Augsburg M, Hudecz O, Buschhorn BA, Bulkescher J, Conrad C, Comartin D, Schleiffer A, Sarov M, Pozniakovsky A, Slabicki MM, Schloissnig S, Steinmacher I, Leuschner M, Ssykor A, Lawo S, Pelletier L, Stark H, Nasmyth K, Ellenberg J, Durbin R, Buchholz F, Mechtler K, Hyman AA, Peters JM. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Science. 2010 Apr 30;328(5978):593-9. doi: 10.1126/science.1181348. Epub 2010 Apr, 1. PMID:20360068 doi:http://dx.doi.org/10.1126/science.1181348
↑ Wu C, Yang M, Li J, Wang C, Cao T, Tao K, Wang B. Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors. PLoS One. 2014 Sep 24;9(9):e107943. doi: 10.1371/journal.pone.0107943., eCollection 2014. PMID:25251415 doi:http://dx.doi.org/10.1371/journal.pone.0107943
↑ Joseph N, Al-Jassar C, Johnson CM, Andreeva A, Barnabas DD, Freund SMV, Gergely F, van Breugel M. Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. Cell Rep. 2018 May 29;23(9):2805-2818. doi: 10.1016/j.celrep.2018.04.100. PMID:29847808 doi:http://dx.doi.org/10.1016/j.celrep.2018.04.100

1 Structural highlights
2 Function
3 Publication Abstract from PubMed
4 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/6ewp"

Categories: Large Structures | Mus musculus | Al-Jassar C | Van Breugel M

@@ Line 1: / Line 1: @@
 ==Mus musculus CEP120 third C2 domain (C2C)==
-<StructureSection load='6ewp' size='340' side='right' caption='[[6ewp]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
+<StructureSection load='6ewp' size='340' side='right'caption='[[6ewp]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[6ewp]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Lk3_transgenic_mice Lk3 transgenic mice]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6EWP OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6EWP FirstGlance]. <br>
+<table><tr><td colspan='2'>[[6ewp]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Mus_musculus Mus musculus]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6EWP OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6EWP FirstGlance]. <br>
-</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=P6G:HEXAETHYLENE+GLYCOL'>P6G</scene></td></tr>
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.85&#8491;</td></tr>
-<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Cep120, Ccdc100 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=10090 LK3 transgenic mice])</td></tr>
+<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=P6G:HEXAETHYLENE+GLYCOL'>P6G</scene></td></tr>
-<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6ewp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ewp OCA], [http://pdbe.org/6ewp PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6ewp RCSB], [http://www.ebi.ac.uk/pdbsum/6ewp PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6ewp ProSAT]</span></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=6ewp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ewp OCA], [https://pdbe.org/6ewp PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6ewp RCSB], [https://www.ebi.ac.uk/pdbsum/6ewp PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6ewp ProSAT]</span></td></tr>
 </table>
 == Function ==
-[[http://www.uniprot.org/uniprot/CE120_MOUSE CE120_MOUSE]] Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis.<ref>PMID:17920017</ref> <ref>PMID:20360068</ref> <ref>PMID:25251415</ref>
+[https://www.uniprot.org/uniprot/CE120_MOUSE CE120_MOUSE] Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis.<ref>PMID:17920017</ref> <ref>PMID:20360068</ref> <ref>PMID:25251415</ref>
 <div style="background-color:#fffaf0;">
 == Publication Abstract from PubMed ==
@@ Line 23: / Line 23: @@
 __TOC__
 </StructureSection>
-[[Category: Lk3 transgenic mice]]
+[[Category: Large Structures]]
-[[Category: Breugel, M van]]
+[[Category: Mus musculus]]
-[[Category: Al-Jassar, C]]
+[[Category: Al-Jassar C]]
-[[Category: Basal body]]
+[[Category: Van Breugel M]]
-[[Category: Centriole]]
-[[Category: Centrosome]]
-[[Category: Cilia]]
-[[Category: Cytosolic protein]]

6ewp

From Proteopedia

Current revision

Mus musculus CEP120 third C2 domain (C2C)

Structural highlights

Function

Publication Abstract from PubMed

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

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