6j6l - Revision history

OCA at 10:02, 22 November 2023

OCA — Wed, 22 Nov 2023 10:02:09 GMT

←Older revision		Revision as of 10:02, 22 November 2023
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	==Crystal structure of mouse Ryanodine Receptor 2 SPRY1 Domain (650-844) disease mutant I784F==		==Crystal structure of mouse Ryanodine Receptor 2 SPRY1 Domain (650-844) disease mutant I784F==
-	<StructureSection load='6j6l' size='340' side='right'caption='[[6j6l]]' scene=''>	+	<StructureSection load='6j6l' size='340' side='right'caption='[[6j6l]], [[Resolution\|resolution]] 1.45Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6J6L OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6J6L FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[6j6l]] is a 2 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=6J6L OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6J6L FirstGlance]. <br>
-	</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=6j6l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6j6l OCA], [https://pdbe.org/6j6l PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6j6l RCSB], [https://www.ebi.ac.uk/pdbsum/6j6l PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6j6l ProSAT]</span></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]] 1.452Å</td></tr>
		+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=IPA:ISOPROPYL+ALCOHOL'>IPA</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=6j6l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6j6l OCA], [https://pdbe.org/6j6l PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6j6l RCSB], [https://www.ebi.ac.uk/pdbsum/6j6l PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6j6l ProSAT]</span></td></tr>
	</table>		</table>
		+	== Function ==
		+	[https://www.uniprot.org/uniprot/RYR2_MOUSE RYR2_MOUSE] Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.<ref>PMID:10473538</ref> <ref>PMID:9628868</ref> <ref>PMID:21098440</ref> <ref>PMID:20431056</ref>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Idiopathic ventricular fibrillation (IVF) causes sudden death in young adult patients without structural or ischemic heart disease. Most IVF cases are sporadic and some patients present with short-coupled torsade de pointes, the genetics of which are poorly understood. A man who had a first syncope at the age of 35 presented with frequent short-coupled premature ventricular beats with bursts of polymorphic ventricular tachycardia and then died suddenly. By exome sequencing, we identified three rare variants: p.I784F in the SPRY1 of the ryanodine receptor 2 (RyR2), p.A96S in connexin 40 (Cx40), reported to affect electrical coupling and cardiac conduction, and a nonsense p.R244X in the cardiac-specific troponin I-interacting kinase (TNNI3K). We assessed intracellular Ca(2+) handling in WT and mutant human RYR2 transfected HEK293 cells by fluorescent microscopy and an enhanced store overload-induced Ca(2+) release in response to cytosolic Ca(2+) was observed in RyR2-I784F cells. In addition, crystal structures and thermal melting temperatures revealed a conformational change in the I784F-SPRY1 domain compared to the WT-domain. The novel RyR2-I784F variant in SPRY1 domain causes a leaky channel under non-stress conditions. The presence of several variants affecting Ca(2+) handling and cardiac conduction suggests a possible oligogenic origin for the ectopies originating from Purkinje fibres.
		+
		+	A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.,Touat-Hamici Z, Blancard M, Ma R, Lin L, Iddir Y, Denjoy I, Leenhardt A, Yuchi Z, Guicheney P Sci Rep. 2021 Mar 4;11(1):5243. doi: 10.1038/s41598-021-84373-9. PMID:33664309<ref>PMID:33664309</ref>
		+
		+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
		+	</div>
		+	<div class="pdbe-citations 6j6l" style="background-color:#fffaf0;"></div>

	==See Also==		==See Also==
	*[[Ryanodine receptor 3D structures\|Ryanodine receptor 3D structures]]		*[[Ryanodine receptor 3D structures\|Ryanodine receptor 3D structures]]
		+	== References ==
		+	<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
	[[Category: Large Structures]]		[[Category: Large Structures]]
		+	[[Category: Mus musculus]]
	[[Category: Lin L]]		[[Category: Lin L]]
	[[Category: Ma R]]		[[Category: Ma R]]
	[[Category: Yuchi Z]]		[[Category: Yuchi Z]]

OCA at 10:39, 28 July 2021

OCA — Wed, 28 Jul 2021 10:39:07 GMT

←Older revision		Revision as of 10:39, 28 July 2021
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-	'''Unreleased structure'''

-	~~The entry~~ 6j6l is ~~ON HOLD until Paper Publication~~	+	==Crystal structure of mouse Ryanodine Receptor 2 SPRY1 Domain (650-844) disease mutant I784F==
		+	<StructureSection load='6j6l' size='340' side='right'caption='[[6j6l]]' scene=''>
		+	== Structural highlights ==
		+	<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6J6L OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6J6L FirstGlance]. <br>
		+	</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=6j6l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6j6l OCA], [https://pdbe.org/6j6l PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6j6l RCSB], [https://www.ebi.ac.uk/pdbsum/6j6l PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6j6l ProSAT]</span></td></tr>
		+	</table>

-	~~Authors: Ma, R., Lin, L., Yuchi, Z.~~	+	==See Also==
-		+	*[[Ryanodine receptor 3D structures\|Ryanodine receptor 3D structures]]
-	~~Description: Crystal structure of mouse~~ Ryanodine ~~Receptor 2 SPRY1 Domain (650-844) disease mutant I784F~~	+	__TOC__
-	[[Category: ~~Unreleased~~ Structures]]	+	</StructureSection>
-	[[Category: ~~Ma, R~~]]	+	[[Category: Large Structures]]
-	[[Category: ~~Lin, L~~]]	+	[[Category: Lin L]]
-	[[Category: Yuchi, Z]]	+	[[Category: Ma R]]
		+	[[Category: Yuchi Z]]

OCA at 07:13, 13 February 2019

OCA — Wed, 13 Feb 2019 07:13:14 GMT

←Older revision		Revision as of 07:13, 13 February 2019
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 6j6l is ON HOLD	+	The entry 6j6l is ON HOLD until Paper Publication

	Authors: Ma, R., Lin, L., Yuchi, Z.		Authors: Ma, R., Lin, L., Yuchi, Z.

OCA: Protected "6j6l" [edit=sysop:move=sysop]

OCA — Wed, 30 Jan 2019 06:09:38 GMT

Protected "6j6l" [edit=sysop:move=sysop]

←Older revision

Revision as of 06:09, 30 January 2019

OCA: New page: '''Unreleased structure''' The entry 6j6l is ON HOLD Authors: Ma, R., Lin, L., Yuchi, Z. Description: Crystal structure of mouse Ryanodine Receptor 2 SPRY1 Domain (650-844) disease mut...

OCA — Wed, 30 Jan 2019 06:09:37 GMT

New page: '''Unreleased structure''' The entry 6j6l is ON HOLD Authors: Ma, R., Lin, L., Yuchi, Z. Description: Crystal structure of mouse Ryanodine Receptor 2 SPRY1 Domain (650-844) disease mut...

New page

'''Unreleased structure'''

The entry 6j6l is ON HOLD

Authors: Ma, R., Lin, L., Yuchi, Z.

Description: Crystal structure of mouse Ryanodine Receptor 2 SPRY1 Domain (650-844) disease mutant I784F
[[Category: Unreleased Structures]]
[[Category: Ma, R]]
[[Category: Lin, L]]
[[Category: Yuchi, Z]]