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4f3j

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Revision as of 04:31, 7 October 2022

Crystal Structure of Trimeric gC1q Domain of Human C1QTNF5 associated with Late-onset Retinal Macular Degeneration

Structural highlights

4f3j is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

C1QT5_HUMAN Late-onset retinal degeneration. The disease is caused by mutations affecting the gene represented in this entry.

Function

C1QT5_HUMAN

Publication Abstract from PubMed

Autosomal dominant late-onset retinal macular degeneration (L-ORMD) is caused by a single S163R mutation in the C1q and tumor necrosis factor-related protein 5 (C1QTNF5) gene. The C1QTNF5 gene encodes a secreted and membrane-associated protein involved in adhesion of retinal pigmented epithelial cells (RPE) to Bruch's membrane. The crystal structure of the trimeric globular domain of human C1QTNF5 at 1.34A resolution reveals unique features of this novel C1q family member. It lacks a Ca(2+)-binding site, displays a remarkable non-uniform distribution of surface electrostatic potentials and possesses a unique sequence (F(181)F(182)G(183)G(184)W(185)P(186)) that forms a hydrophobic plateau surrounded by Lys and Arg residues with a solvent cavity underneath. S(163) forms a hydrogen bond with F(182) in a hydrophobic area extending to the hydrophobic plateau. The pathogenic mutation S163R disrupts this hydrogen bonding and positively charges these hydrophobic areas. Thus, our analysis provides insights into the structural basis of the L-ORMD disease mechanism.

Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.,Tu X, Palczewski K J Struct Biol. 2012 Aug 7. PMID:22892318^[1]

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

References

↑ Tu X, Palczewski K. Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration. J Struct Biol. 2012 Aug 7. PMID:22892318 doi:http://dx.doi.org/10.1016/j.jsb.2012.07.011

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

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/4f3j"

Categories: Homo sapiens | Large Structures | Palczewski K | Tu X

@@ Line 1: / Line 1: @@
 ==Crystal Structure of Trimeric gC1q Domain of Human C1QTNF5 associated with Late-onset Retinal Macular Degeneration==
-<StructureSection load='4f3j' size='340' side='right' caption='[[4f3j]], [[Resolution|resolution]] 1.34&Aring;' scene=''>
+<StructureSection load='4f3j' size='340' side='right'caption='[[4f3j]], [[Resolution|resolution]] 1.34&Aring;' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[4f3j]] is a 1 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=4F3J OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4F3J FirstGlance]. <br>
+<table><tr><td colspan='2'>[[4f3j]] is a 1 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=4F3J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4F3J FirstGlance]. <br>
-</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">C1QTNF5, CTRP5, UNQ303/PRO344 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
+</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=4f3j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4f3j OCA], [https://pdbe.org/4f3j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4f3j RCSB], [https://www.ebi.ac.uk/pdbsum/4f3j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4f3j ProSAT]</span></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=4f3j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4f3j OCA], [http://pdbe.org/4f3j PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4f3j RCSB], [http://www.ebi.ac.uk/pdbsum/4f3j PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4f3j ProSAT]</span></td></tr>
 </table>
 == Disease ==
-[[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.
+[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 ==
@@ Line 22: / Line 23: @@
 __TOC__
 </StructureSection>
-[[Category: Human]]
+[[Category: Homo sapiens]]
-[[Category: Palczewski, K]]
+[[Category: Large Structures]]
-[[Category: Tu, X]]
+[[Category: Palczewski K]]
-[[Category: 10-strand jelly-roll fold]]
+[[Category: Tu X]]
-[[Category: Age-related macular degeneration]]
-[[Category: Amd]]
-[[Category: C1qtnf5]]
-[[Category: Ciliary body]]
-[[Category: Ctrp5]]
-[[Category: Drusen]]
-[[Category: L-ord]]
-[[Category: L-ormd]]
-[[Category: Late-onset retinal macular degeneration]]
-[[Category: Mfrp]]
-[[Category: Retinal deposite]]
-[[Category: Rpe]]
-[[Category: S163r]]
-[[Category: Ser163arg]]
-[[Category: Signaling protein]]

4f3j

From Proteopedia

Revision as of 04:31, 7 October 2022

Crystal Structure of Trimeric gC1q Domain of Human C1QTNF5 associated with Late-onset Retinal Macular Degeneration

Structural highlights

Disease

Function

Publication Abstract from PubMed

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

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