2kdg - Revision history

OCA at 19:11, 29 May 2024

OCA — Wed, 29 May 2024 19:11:35 GMT

←Older revision		Revision as of 19:11, 29 May 2024
Line 1:		Line 1:

	==Solution Structure of the 1st Ig domain of Myotilin==		==Solution Structure of the 1st Ig domain of Myotilin==
-	<StructureSection load='2kdg' size='340' side='right'caption='[[2kdg~~]], [[NMR_Ensembles_of_Models \| 25 NMR models~~]]' scene=''>	+	<StructureSection load='2kdg' size='340' side='right'caption='[[2kdg]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/~~Human Human~~]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KDG FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KDG FirstGlance]. <br>
-	</td></tr><tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat"~~>MYOT, TTID ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&~~id=~~9606 HUMAN])~~</td></tr>	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [https://pdbe.org/2kdg PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [https://www.ebi.ac.uk/pdbsum/2kdg PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kdg 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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [https://pdbe.org/2kdg PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [https://www.ebi.ac.uk/pdbsum/2kdg PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kdg ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[https://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[https://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[https://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>	+	[https://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[https://omim.org/entry/159000 159000]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[https://omim.org/entry/609200 609200]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[https://omim.org/entry/182920 182920]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.<ref>PMID:12499399</ref>	+	[https://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN] Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.<ref>PMID:12499399</ref>
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 37:		Line 37:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Carpen, O]]	+	[[Category: Carpen O]]
-	[[Category: Heikkinen, O]]	+	[[Category: Heikkinen O]]
-	[[Category: Kilpelainen, I]]	+	[[Category: Kilpelainen I]]
-	[[Category: Koskela, H]]	+	[[Category: Koskela H]]
-	[[Category: Permi, P]]	+	[[Category: Permi P]]
-	[[Category: Ylanne, J]]	+	[[Category: Ylanne J]]
-	~~[[Category: Actin-binding]]~~	+
-	~~[[Category: Cell membrane]]~~	+
-	~~[[Category: Cytoplasm]]~~	+
-	~~[[Category: Cytoskeleton]]~~	+
-	~~[[Category: Disease mutation]]~~	+
-	~~[[Category: Immonoglobulin domain]]~~	+
-	~~[[Category: Immunoglobulin domain]]~~	+
-	~~[[Category: Limb-girdle muscular dystrophy]]~~	+
-	~~[[Category: Membrane]]~~	+
-	~~[[Category: Muscle protein]]~~	+
-	~~[[Category: Myotilin]]~~	+
-	~~[[Category: Polymorphism]]~~	+
-	~~[[Category: Structural protein~~]]	+

OCA at 08:18, 7 April 2021

OCA — Wed, 07 Apr 2021 08:18:06 GMT

←Older revision		Revision as of 08:18, 7 April 2021
Line 1:		Line 1:

	==Solution Structure of the 1st Ig domain of Myotilin==		==Solution Structure of the 1st Ig domain of Myotilin==
-	<StructureSection load='2kdg' size='340' side='right' caption='[[2kdg]], [[NMR_Ensembles_of_Models \| 25 NMR models]]' scene=''>	+	<StructureSection load='2kdg' size='340' side='right'caption='[[2kdg]], [[NMR_Ensembles_of_Models \| 25 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [~~http~~://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2KDG FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KDG FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [~~http~~://pdbe.org/2kdg PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2kdg PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2kdg 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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [https://pdbe.org/2kdg PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [https://www.ebi.ac.uk/pdbsum/2kdg PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kdg ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[~~http~~://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[~~http~~://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[~~http~~://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>	+	[[https://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[https://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[https://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[https://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.<ref>PMID:12499399</ref>	+	[[https://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.<ref>PMID:12499399</ref>
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 38:		Line 38:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Carpen, O]]		[[Category: Carpen, O]]
	[[Category: Heikkinen, O]]		[[Category: Heikkinen, O]]

OCA at 10:18, 18 July 2018

OCA — Wed, 18 Jul 2018 10:18:43 GMT

←Older revision		Revision as of 10:18, 18 July 2018
Line 1:		Line 1:
		+
	==Solution Structure of the 1st Ig domain of Myotilin==		==Solution Structure of the 1st Ig domain of Myotilin==
	<StructureSection load='2kdg' size='340' side='right' caption='[[2kdg]], [[NMR_Ensembles_of_Models \| 25 NMR models]]' scene=''>		<StructureSection load='2kdg' size='340' side='right' caption='[[2kdg]], [[NMR_Ensembles_of_Models \| 25 NMR models]]' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br>		<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://pdbe.org/2kdg PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://pdbe.org/2kdg PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2kdg ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 14:		Line 15:
	Check<jmol>		Check<jmol>
	<jmolCheckbox>		<jmolCheckbox>
-	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kd/2kdg_consurf.spt"</scriptWhenChecked>	+	<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kd/2kdg_consurf.spt"</scriptWhenChecked>
	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>		<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>
	</jmolCheckbox>		</jmolCheckbox>
-	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/~~chain_selection~~.php?pdb_ID=~~2ata~~ ConSurf].	+	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2kdg ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
Line 45:		Line 46:
	[[Category: Actin-binding]]		[[Category: Actin-binding]]
	[[Category: Cell membrane]]		[[Category: Cell membrane]]
		+	[[Category: Cytoplasm]]
	[[Category: Cytoskeleton]]		[[Category: Cytoskeleton]]
	[[Category: Disease mutation]]		[[Category: Disease mutation]]
Line 53:		Line 55:
	[[Category: Muscle protein]]		[[Category: Muscle protein]]
	[[Category: Myotilin]]		[[Category: Myotilin]]
		+	[[Category: Polymorphism]]
	[[Category: Structural protein]]		[[Category: Structural protein]]

OCA at 00:27, 12 September 2015

OCA — Sat, 12 Sep 2015 00:27:49 GMT

←Older revision		Revision as of 00:27, 12 September 2015
Line 2:		Line 2:
	<StructureSection load='2kdg' size='340' side='right' caption='[[2kdg]], [[NMR_Ensembles_of_Models \| 25 NMR models]]' scene=''>		<StructureSection load='2kdg' size='340' side='right' caption='[[2kdg]], [[NMR_Ensembles_of_Models \| 25 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/~~Homo_sapiens Homo sapiens~~]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://pdbe.org/2kdg PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 28:		Line 28:
	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>		From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
	</div>		</div>
		+	<div class="pdbe-citations 2kdg" style="background-color:#fffaf0;"></div>

	==See Also==		==See Also==
Line 35:		Line 36:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Carpen, O]]		[[Category: Carpen, O]]
	[[Category: Heikkinen, O]]		[[Category: Heikkinen, O]]

OCA at 15:00, 19 January 2015

OCA — Mon, 19 Jan 2015 15:00:18 GMT

←Older revision		Revision as of 15:00, 19 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br>		<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-	<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[http://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[http://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[http://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>		[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[http://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[http://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[http://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>
Line 36:		Line 36:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Carpen, O.]]	+	[[Category: Carpen, O]]
-	[[Category: Heikkinen, O.]]	+	[[Category: Heikkinen, O]]
-	[[Category: Kilpelainen, I.]]	+	[[Category: Kilpelainen, I]]
-	[[Category: Koskela, H.]]	+	[[Category: Koskela, H]]
-	[[Category: Permi, P.]]	+	[[Category: Permi, P]]
-	[[Category: Ylanne, J.]]	+	[[Category: Ylanne, J]]
	[[Category: Actin-binding]]		[[Category: Actin-binding]]
	[[Category: Cell membrane]]		[[Category: Cell membrane]]

OCA at 08:31, 30 September 2014

OCA — Tue, 30 Sep 2014 08:31:24 GMT

←Older revision		Revision as of 08:31, 30 September 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_2kdg~~\| ~~PDB~~=2kdg \| ~~SCENE~~= }}	+	==Solution Structure of the 1st Ig domain of Myotilin==
-	===~~Solution Structure~~ of the ~~1st Ig domain~~ of ~~Myotilin~~===	+	<StructureSection load='2kdg' size='340' side='right' caption='[[2kdg]], [[NMR_Ensembles_of_Models \| 25 NMR models]]' scene=''>
-	~~{{ABSTRACT_PUBMED_19418025}}~~	+	== Structural highlights ==
		+	<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br>
		+	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
		+	<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</span></td></tr>
		+	<table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[http://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[http://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[http://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>
		+	== Function ==
		+	[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.<ref>PMID:12499399</ref>
		+	== Evolutionary Conservation ==
		+	[[Image:Consurf_key_small.gif\|200px\|right]]
		+	Check<jmol>
		+	<jmolCheckbox>
		+	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kd/2kdg_consurf.spt"</scriptWhenChecked>
		+	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
		+	<text>to colour the structure by Evolutionary Conservation</text>
		+	</jmolCheckbox>
		+	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
		+	<div style="clear:both"></div>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Myotilin is a 57 kDa actin-binding and -bundling protein that consists of a unique serine-rich amino-terminus, two Ig-domains and a short carboxy-terminus with a PDZ-binding motif. Myotilin localizes in sarcomeric Z-discs, where it interacts with several sarcomeric proteins. Point mutations in myotilin cause muscle disorders morphologically highlighted by sarcomeric disarray and aggregation. The actin-binding and dimerization propensity of myotilin has been mapped to the Ig-domains. Here we present high-resolution structure of the first Ig-domain of myotilin (MyoIg1) determined with solution state NMR spectroscopy. Nearly complete chemical shift assignments of MyoIg1 were achieved despite several missing backbone 1H-15N-HSQC signals. The structure derived from distance and dihedral angle restraints using torsion angle dynamics was further refined using molecular dynamics. The structure of MyoIg1 exhibits I-type Ig-fold. The absence of several backbone 1H-15N-HSQC signals can be explained by conformational exchange taking place at the hydrophobic core of the protein.

-	~~==Disease==~~	+	Solution structure of the first immunoglobulin domain of human myotilin.,Heikkinen O, Permi P, Koskela H, Carpen O, Ylanne J, Kilpelainen I J Biomol NMR. 2009 Jun;44(2):107-12. Epub 2009 May 6. PMID:19418025<ref>PMID:19418025</ref>
-	~~[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are~~ the ~~cause~~ of ~~limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[http://omim~~.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, ~~later progressing to include distal weakness~~, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref><ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[http://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, ~~tight heel cords~~, ~~hyporeflexia~~, ~~cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line~~, ~~presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits~~.~~<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy~~ (~~SBM~~) ~~[MIM~~:~~[http://omim~~.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:~~16380616~~</ref>	+

-	~~==Function==~~	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~[[http:~~/~~/www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Component of~~ a ~~complex~~ of ~~multiple actin cross-linking proteins~~. ~~Involved in the control~~ of ~~myofibril assembly and stability at the Z lines in muscle cells~~.<~~ref~~>~~PMID:12499399~~</~~ref~~>	+	</div>
-		+
-	~~==About this Structure==~~	+
-	[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA].	+

	==See Also==		==See Also==
	*[[Myotilin\|Myotilin]]		*[[Myotilin\|Myotilin]]
-		+	== References ==
-	==~~Reference~~==	+	<references/>
-	~~<ref group="xtra">PMID:019418025</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Carpen, O.]]		[[Category: Carpen, O.]]

OCA at 04:22, 25 March 2013

OCA — Mon, 25 Mar 2013 04:22:13 GMT

←Older revision		Revision as of 04:22, 25 March 2013
Line 1:		Line 1:
-	[[Image:2kdg.png\|left\|200px]]
-
-	<!--
-	The line below this paragraph, containing "STRUCTURE_2kdg", creates the "Structure Box" on the page.
-	You may change the PDB parameter (which sets the PDB file loaded into the applet)
-	or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-	or leave the SCENE parameter empty for the default display.
-	-->
	{{STRUCTURE_2kdg\| PDB=2kdg \| SCENE= }}		{{STRUCTURE_2kdg\| PDB=2kdg \| SCENE= }}
-
	===Solution Structure of the 1st Ig domain of Myotilin===		===Solution Structure of the 1st Ig domain of Myotilin===
		+	{{ABSTRACT_PUBMED_19418025}}

		+	==Disease==
		+	[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[http://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref><ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[http://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[http://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref>

-	~~<!--~~	+	==Function==
-	~~The line below this paragraph, {{ABSTRACT_PUBMED_19418025}}, adds the Publication Abstract to the page~~	+	[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.<ref>PMID:12499399</ref>
-	~~(as it appears on PubMed at~~ http://www.~~pubmed~~.~~gov), where 19418025 is~~ the ~~PubMed ID number~~.	+
-	-->	+
-	~~{{ABSTRACT_PUBMED_19418025}}~~	+

	==About this Structure==		==About this Structure==
Line 22:		Line 13:

	==See Also==		==See Also==
-	*[[~~Group:MUZIC:~~Myotilin\|~~MUZIC:~~Myotilin]]	+	*[[Myotilin\|Myotilin]]

	==Reference==		==Reference==
-	<ref group="xtra">PMID:019418025</ref><references group="xtra"/>	+	<ref group="xtra">PMID:019418025</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Carpen, O.]]		[[Category: Carpen, O.]]

OCA at 07:58, 1 April 2012

OCA — Sun, 01 Apr 2012 07:58:38 GMT

←Older revision		Revision as of 07:58, 1 April 2012
Line 22:		Line 22:

	==See Also==		==See Also==
-	*[[Group:MUZIC:Myotilin]]	+	*[[Group:MUZIC:Myotilin\|MUZIC:Myotilin]]

	==Reference==		==Reference==

OCA: Protected "2kdg" [edit=sysop:move=sysop]

OCA — Fri, 30 Mar 2012 09:47:11 GMT

Protected "2kdg" [edit=sysop:move=sysop]

←Older revision

Revision as of 09:47, 30 March 2012

OCA at 09:47, 30 March 2012

OCA — Fri, 30 Mar 2012 09:47:09 GMT

←Older revision		Revision as of 09:47, 30 March 2012
Line 1:		Line 1:
-	~~{{Seed}}~~	+	[[Image:2kdg.png\|left\|200px]]
-	[[Image:2kdg.~~jpg~~\|left\|200px]]	+

	<!--		<!--
Line 20:		Line 19:

	==About this Structure==		==About this Structure==
-	~~2KDG~~ is a 1 chain structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA].	+	[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA].
		+
		+	==See Also==
		+	*[[Group:MUZIC:Myotilin]]

	==Reference==		==Reference==
-	<ref group="xtra">PMID:~~19418025~~</ref><references group="xtra"/>	+	<ref group="xtra">PMID:019418025</ref><references group="xtra"/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Carpen, O.]]		[[Category: Carpen, O.]]
Line 33:		Line 35:
	[[Category: Actin-binding]]		[[Category: Actin-binding]]
	[[Category: Cell membrane]]		[[Category: Cell membrane]]
-	[[Category: Cytoplasm]]
	[[Category: Cytoskeleton]]		[[Category: Cytoskeleton]]
	[[Category: Disease mutation]]		[[Category: Disease mutation]]
Line 42:		Line 43:
	[[Category: Muscle protein]]		[[Category: Muscle protein]]
	[[Category: Myotilin]]		[[Category: Myotilin]]
-	[[Category: Polymorphism]]
	[[Category: Structural protein]]		[[Category: Structural protein]]
-
-	''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Jul 22 20:28:23 2009''