OCA at 10:26, 15 February 2023

OCA — Wed, 15 Feb 2023 10:26:56 GMT

←Older revision		Revision as of 10:26, 15 February 2023
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-	'''Unreleased structure'''

-	The entry ~~8bw6~~ is ~~ON HOLD~~ ~~until Paper Publication~~	+	==Titin FnIII-domain I110 (I/A6) from the MIR region==
-		+	<StructureSection load='8bw6' size='340' side='right'caption='[[8bw6]], [[Resolution\|resolution]] 1.95Å' scene=''>
-	~~Authors~~:	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[8bw6]] 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=8BW6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8BW6 FirstGlance]. <br>
-	~~Description~~:	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=PEG:DI(HYDROXYETHYL)ETHER'>PEG</scene></td></tr>
-	[[Category: ~~Unreleased~~ Structures]]	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8bw6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8bw6 OCA], [https://pdbe.org/8bw6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8bw6 RCSB], [https://www.ebi.ac.uk/pdbsum/8bw6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8bw6 ProSAT]</span></td></tr>
		+	</table>
		+	== Disease ==
		+	[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 ==
		+	[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>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Homo sapiens]]
		+	[[Category: Large Structures]]
		+	[[Category: Fleming JR]]
		+	[[Category: Mayans O]]

OCA at 05:37, 11 January 2023

OCA — Wed, 11 Jan 2023 05:37:15 GMT

←Older revision		Revision as of 05:37, 11 January 2023
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 8bw6 is ON HOLD	+	The entry 8bw6 is ON HOLD until Paper Publication

	Authors:		Authors:

OCA: Protected "8bw6" [edit=sysop:move=sysop]

OCA — Wed, 14 Dec 2022 07:25:57 GMT

Protected "8bw6" [edit=sysop:move=sysop]

←Older revision

Revision as of 07:25, 14 December 2022

OCA: New page: '''Unreleased structure''' The entry 8bw6 is ON HOLD Authors: Description: Category: Unreleased Structures

OCA — Wed, 14 Dec 2022 07:25:54 GMT

New page: '''Unreleased structure''' The entry 8bw6 is ON HOLD Authors: Description: Category: Unreleased Structures

New page

'''Unreleased structure'''

The entry 8bw6 is ON HOLD

Authors:

Description:
[[Category: Unreleased Structures]]

8bw6 - Revision history

OCA at 10:26, 15 February 2023

OCA at 05:37, 11 January 2023

OCA: Protected "8bw6" [edit=sysop:move=sysop]

OCA: New page: '''Unreleased structure''' The entry 8bw6 is ON HOLD Authors: Description: Category: Unreleased Structures