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{{STRUCTURE_4nn0|  PDB=4nn0  |  SCENE=  }}
===Crystal structure of the C1QTNF5 globular domain in space group P63===
{{ABSTRACT_PUBMED_24531000}}


==Disease==
==Crystal structure of the C1QTNF5 globular domain in space group P63==
[[http://www.uniprot.org/uniprot/C1QT5_HUMAN C1QT5_HUMAN]] Late-onset retinal degeneration. The disease is caused by mutations affecting the gene represented in this entry.  
<StructureSection load='4nn0' size='340' side='right'caption='[[4nn0]], [[Resolution|resolution]] 1.42&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[4nn0]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4NN0 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4NN0 FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.42&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ACT:ACETATE+ION'>ACT</scene>, <scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></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=4nn0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4nn0 OCA], [https://pdbe.org/4nn0 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4nn0 RCSB], [https://www.ebi.ac.uk/pdbsum/4nn0 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4nn0 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/C1QT5_HUMAN C1QT5_HUMAN] Late-onset retinal degeneration. The disease is caused by mutations affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/C1QT5_HUMAN C1QT5_HUMAN]
<div style="background-color:#fffaf0;">
== Publication Abstract from PubMed ==
The C1q-tumor necrosis factor 5 (C1QTNF5) protein plays a significant role in retinal pigmented epithelium (RPE) cellular adhesion. The C1QTNF5 gene is co-transcribed with the frizzled-related protein (MFRP) gene. A Ser-to-Arg mutation at site 163 (S163R) in C1QTNF5 is known to cause late-onset retinal macular degeneration (L-ORMD). Here we also found that C1QTNF5 monomers can multimerize into a bouquet-like octadecamer. We found that a novel intermolecular hydrogen-bond network of S163 that glues adjacent globular heads of C1QTNF5 together was weakened or abolished by the R163 pathogenic mutation. These findings could underlie the structural basis of this protein's adhesive function and relate to the pathogenesis of its S163R mutation. Additionally, the fact that C1QTNF5 immobilized to a resin selectively enriched detergent extracted membrane-bound MFRP, further confirmed their interaction, implying functions other than cellular adhesion for C1QTNF5.


==About this Structure==
The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements.,Tu X, Palczewski K J Struct Biol. 2014 Feb 12. pii: S1047-8477(14)00025-2. doi:, 10.1016/j.jsb.2014.02.001. PMID:24531000<ref>PMID:24531000</ref>
[[4nn0]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4NN0 OCA].


==Reference==
From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
<ref group="xtra">PMID:024531000</ref><references group="xtra"/><references/>
</div>
[[Category: Human]]
<div class="pdbe-citations 4nn0" style="background-color:#fffaf0;"></div>
[[Category: Palczewski, K.]]
== References ==
[[Category: Tu, X.]]
<references/>
[[Category: 10-strand jelly-roll fold]]
__TOC__
[[Category: Cell adhesion]]
</StructureSection>
[[Category: Cellular adhesion]]
[[Category: Homo sapiens]]
[[Category: L-ormd]]
[[Category: Large Structures]]
[[Category: Late onset retinal macular degeneration]]
[[Category: Palczewski K]]
[[Category: S163r]]
[[Category: Tu X]]
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