4o00 - Revision history

OCA at 17:05, 20 September 2023

2023-09-20T17:05:24Z

←Older revision		Revision as of 17:05, 20 September 2023
Line 4:		Line 4:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[4o00]] is a 2 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=4O00 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4O00 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4o00]] is a 2 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=4O00 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4O00 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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [https://pdbe.org/4o00 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [https://www.ebi.ac.uk/pdbsum/4o00 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4o00 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]] 1.853Å</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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [https://pdbe.org/4o00 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [https://www.ebi.ac.uk/pdbsum/4o00 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4o00 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==

OCA at 08:49, 18 January 2023

2023-01-18T08:49:21Z

←Older revision		Revision as of 08:49, 18 January 2023
Line 1:		Line 1:

	==Crystal structure of the Titin A-band domain A3==		==Crystal structure of the Titin A-band domain A3==
-	<StructureSection load='4o00' size='340' side='right' caption='[[4o00]], [[Resolution\|resolution]] 1.85Å' scene=''>	+	<StructureSection load='4o00' size='340' side='right'caption='[[4o00]], [[Resolution\|resolution]] 1.85Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4o00]] is a 2 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=4O00 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=4O00 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4o00]] is a 2 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=4O00 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4O00 FirstGlance]. <br>
-	</td></tr>~~<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TTN ([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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [https://pdbe.org/4o00 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [https://www.ebi.ac.uk/pdbsum/4o00 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4o00 ProSAT]</span></td></tr>
-	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Non-specific_serine/threonine_protein_kinase Non-specific serine/threonine protein kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.11.1 2.7.11.1] </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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [~~http~~://pdbe.org/4o00 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/4o00 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=4o00 ProSAT]</span></td></tr>	+
	</table>		</table>
	== Disease ==		== Disease ==
-	[~~[http~~://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Defects in TTN are the cause of hereditary myopathy with early respiratory failure (HMERF) [MIM:[~~http~~://omim.org/entry/603689 603689]]; also known as Edstrom myopathy. HMERF is an autosomal dominant, adult-onset myopathy with early respiratory muscle involvement.<ref>PMID:15802564</ref> Defects in TTN are the cause of familial hypertrophic cardiomyopathy type 9 (CMH9) [MIM:[~~http~~://omim.org/entry/613765 613765]]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.<ref>PMID:10462489</ref> Defects in TTN are the cause of cardiomyopathy dilated type 1G (CMD1G) [MIM:[~~http~~://omim.org/entry/604145 604145]]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:11846417</ref> <ref>PMID:11788824</ref> <ref>PMID:16465475</ref> Defects in TTN are the cause of tardive tibial muscular dystrophy (TMD) [MIM:[~~http~~://omim.org/entry/600334 600334]]; also known as Udd myopathy. TMD is an autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.<ref>PMID:12145747</ref> <ref>PMID:12891679</ref> Defects in TTN are the cause of limb-girdle muscular dystrophy type 2J (LGMD2J) [MIM:[~~http~~://omim.org/entry/608807 608807]]. LGMD2J is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. Defects in TTN are the cause of early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:[~~http~~://omim.org/entry/611705 611705]]. Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion.<ref>PMID:17444505</ref>	+	[https://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN] Defects in TTN are the cause of hereditary myopathy with early respiratory failure (HMERF) [MIM:[https://omim.org/entry/603689 603689]; also known as Edstrom myopathy. HMERF is an autosomal dominant, adult-onset myopathy with early respiratory muscle involvement.<ref>PMID:15802564</ref> Defects in TTN are the cause of familial hypertrophic cardiomyopathy type 9 (CMH9) [MIM:[https://omim.org/entry/613765 613765]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.<ref>PMID:10462489</ref> Defects in TTN are the cause of cardiomyopathy dilated type 1G (CMD1G) [MIM:[https://omim.org/entry/604145 604145]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:11846417</ref> <ref>PMID:11788824</ref> <ref>PMID:16465475</ref> Defects in TTN are the cause of tardive tibial muscular dystrophy (TMD) [MIM:[https://omim.org/entry/600334 600334]; also known as Udd myopathy. TMD is an autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.<ref>PMID:12145747</ref> <ref>PMID:12891679</ref> Defects in TTN are the cause of limb-girdle muscular dystrophy type 2J (LGMD2J) [MIM:[https://omim.org/entry/608807 608807]. LGMD2J is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. Defects in TTN are the cause of early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:[https://omim.org/entry/611705 611705]. Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion.<ref>PMID:17444505</ref>
	== Function ==		== Function ==
-	[~~[http~~://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.<ref>PMID:9804419</ref>	+	[https://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN] Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.<ref>PMID:9804419</ref>
		+
		+	==See Also==
		+	*[[Titin 3D structures\|Titin 3D structures]]
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
-	[[Category: ~~Non-specific serine/threonine protein kinase~~]]	+	[[Category: Large Structures]]
-	[[Category: Gautel, M]]	+	[[Category: Gautel M]]
-	[[Category: Rees~~, M J]]~~	+	[[Category: Rees MJ]]
-	~~[[Category: Beta barrel]]~~	+
-	~~[[Category: Fibronectin-3 domain]]~~	+
-	~~[[Category: Myosin-binding]]~~	+
-	~~[[Category: Structural protein~~]]	+

OCA at 08:19, 22 November 2017

2017-11-22T08:19:45Z

←Older revision		Revision as of 08:19, 22 November 2017
Line 3:		Line 3:
	<StructureSection load='4o00' size='340' side='right' caption='[[4o00]], [[Resolution\|resolution]] 1.85Å' scene=''>		<StructureSection load='4o00' size='340' side='right' caption='[[4o00]], [[Resolution\|resolution]] 1.85Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4o00]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4O00 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4O00 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4o00]] is a 2 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=4O00 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4O00 FirstGlance]. <br>
-	</td></tr><tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Non-specific_serine/threonine_protein_kinase Non-specific serine/threonine protein kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.11.1 2.7.11.1] </span></td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TTN ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
		+	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Non-specific_serine/threonine_protein_kinase Non-specific serine/threonine protein kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.11.1 2.7.11.1] </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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [http://pdbe.org/4o00 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [http://www.ebi.ac.uk/pdbsum/4o00 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4o00 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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [http://pdbe.org/4o00 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [http://www.ebi.ac.uk/pdbsum/4o00 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4o00 ProSAT]</span></td></tr>
	</table>		</table>
Line 11:		Line 12:
	== Function ==		== Function ==
	[[http://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.<ref>PMID:9804419</ref>		[[http://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.<ref>PMID:9804419</ref>
-
-	==See Also==
-	*[[Titin\|Titin]]
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
		+	[[Category: Human]]
	[[Category: Non-specific serine/threonine protein kinase]]		[[Category: Non-specific serine/threonine protein kinase]]
	[[Category: Gautel, M]]		[[Category: Gautel, M]]

OCA at 20:09, 5 August 2016

2016-08-05T20:09:04Z

←Older revision		Revision as of 20:09, 5 August 2016
Line 1:		Line 1:
		+
	==Crystal structure of the Titin A-band domain A3==		==Crystal structure of the Titin A-band domain A3==
	<StructureSection load='4o00' size='340' side='right' caption='[[4o00]], [[Resolution\|resolution]] 1.85Å' scene=''>		<StructureSection load='4o00' size='340' side='right' caption='[[4o00]], [[Resolution\|resolution]] 1.85Å' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[4o00]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4O00 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4O00 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4o00]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4O00 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4O00 FirstGlance]. <br>
	</td></tr><tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Non-specific_serine/threonine_protein_kinase Non-specific serine/threonine protein kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.11.1 2.7.11.1] </span></td></tr>		</td></tr><tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Non-specific_serine/threonine_protein_kinase Non-specific serine/threonine protein kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.11.1 2.7.11.1] </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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [http://www.ebi.ac.uk/pdbsum/4o00 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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [http://pdbe.org/4o00 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [http://www.ebi.ac.uk/pdbsum/4o00 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4o00 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 10:		Line 11:
	== Function ==		== Function ==
	[[http://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.<ref>PMID:9804419</ref>		[[http://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.<ref>PMID:9804419</ref>
		+
		+	==See Also==
		+	*[[Titin\|Titin]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 11:07, 24 December 2014

2014-12-24T11:07:12Z

←Older revision		Revision as of 11:07, 24 December 2014
Line 1:		Line 1:
-	'''~~Unreleased~~ structure'''	+	==Crystal structure of the Titin A-band domain A3==
-		+	<StructureSection load='4o00' size='340' side='right' caption='[[4o00]], [[Resolution\|resolution]] 1.85Å' scene=''>
-	The entry ~~4o00~~ is ~~ON HOLD~~ ~~until Paper Publication~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[4o00]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4O00 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4O00 FirstGlance]. <br>
-	~~Authors~~: Rees, M.J.	+	</td></tr><tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Non-specific_serine/threonine_protein_kinase Non-specific serine/threonine protein kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.11.1 2.7.11.1] </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=4o00 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4o00 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4o00 RCSB], [http://www.ebi.ac.uk/pdbsum/4o00 PDBsum]</span></td></tr>
-	~~Description~~: ~~Crystal structure of the Titin A~~-~~band~~ domain A3	+	</table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Defects in TTN are the cause of hereditary myopathy with early respiratory failure (HMERF) [MIM:[http://omim.org/entry/603689 603689]]; also known as Edstrom myopathy. HMERF is an autosomal dominant, adult-onset myopathy with early respiratory muscle involvement.<ref>PMID:15802564</ref> Defects in TTN are the cause of familial hypertrophic cardiomyopathy type 9 (CMH9) [MIM:[http://omim.org/entry/613765 613765]]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.<ref>PMID:10462489</ref> Defects in TTN are the cause of cardiomyopathy dilated type 1G (CMD1G) [MIM:[http://omim.org/entry/604145 604145]]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:11846417</ref> <ref>PMID:11788824</ref> <ref>PMID:16465475</ref> Defects in TTN are the cause of tardive tibial muscular dystrophy (TMD) [MIM:[http://omim.org/entry/600334 600334]]; also known as Udd myopathy. TMD is an autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.<ref>PMID:12145747</ref> <ref>PMID:12891679</ref> Defects in TTN are the cause of limb-girdle muscular dystrophy type 2J (LGMD2J) [MIM:[http://omim.org/entry/608807 608807]]. LGMD2J is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. Defects in TTN are the cause of early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:[http://omim.org/entry/611705 611705]]. Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion.<ref>PMID:17444505</ref>
		+	== Function ==
		+	[[http://www.uniprot.org/uniprot/TITIN_HUMAN TITIN_HUMAN]] Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.<ref>PMID:9804419</ref>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Non-specific serine/threonine protein kinase]]
		+	[[Category: Gautel, M]]
		+	[[Category: Rees, M J]]
		+	[[Category: Beta barrel]]
		+	[[Category: Fibronectin-3 domain]]
		+	[[Category: Myosin-binding]]
		+	[[Category: Structural protein]]

OCA at 06:45, 22 January 2014

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	Authors: Rees, M.J.		Authors: Rees, M.J.

	Description: Crystal structure of the Titin A-band domain A3		Description: Crystal structure of the Titin A-band domain A3

OCA: Protected "4o00" [edit=sysop:move=sysop]

2013-12-25T09:28:29Z

Protected "4o00" [edit=sysop:move=sysop]

←Older revision

Revision as of 09:28, 25 December 2013

OCA: New page: '''Unreleased structure''' The entry 4o00 is ON HOLD Authors: Rees, M.J. Description: Crystal structure of the Titin A-band domain A3

2013-12-25T09:28:28Z

New page: '''Unreleased structure''' The entry 4o00 is ON HOLD Authors: Rees, M.J. Description: Crystal structure of the Titin A-band domain A3

New page

'''Unreleased structure'''

The entry 4o00 is ON HOLD

Authors: Rees, M.J.

Description: Crystal structure of the Titin A-band domain A3