1jbi - Revision history

OCA at 07:50, 3 April 2024

2024-04-03T07:50:50Z

←Older revision		Revision as of 07:50, 3 April 2024
Line 1:		Line 1:

	==NMR structure of the LCCL domain==		==NMR structure of the LCCL domain==
-	<StructureSection load='1jbi' size='340' side='right'caption='[[1jbi~~]], [[NMR_Ensembles_of_Models \| 20 NMR models~~]]' scene=''>	+	<StructureSection load='1jbi' size='340' side='right'caption='[[1jbi]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1JBI FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1JBI FirstGlance]. <br>
-	</td></tr><tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat"~~>M13mp18 ([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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [https://pdbe.org/1jbi PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [https://www.ebi.ac.uk/pdbsum/1jbi PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1jbi 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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [https://pdbe.org/1jbi PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [https://www.ebi.ac.uk/pdbsum/1jbi PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1jbi ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[https://omim.org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref> <ref>PMID:9931344</ref> <ref>PMID:10400989</ref> <ref>PMID:11295836</ref> <ref>PMID:14512963</ref> <ref>PMID:12928864</ref>	+	[https://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[https://omim.org/entry/601369 601369]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref> <ref>PMID:9931344</ref> <ref>PMID:10400989</ref> <ref>PMID:11295836</ref> <ref>PMID:14512963</ref> <ref>PMID:12928864</ref>
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Plays a role in the control of cell shape and motility in the trabecular meshwork.<ref>PMID:21886777</ref>	+	[https://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN] Plays a role in the control of cell shape and motility in the trabecular meshwork.<ref>PMID:21886777</ref>
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 21:		Line 21:
	</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=1jbi 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=1jbi ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
-	<div style="background-color:#fffaf0;">
-	== Publication Abstract from PubMed ==
-	The LCCL domain is a recently discovered, conserved protein module named after its presence in Limulus factor C, cochlear protein Coch-5b2 and late gestation lung protein Lgl1. The LCCL domain plays a key role in the autosomal dominant human deafness disorder DFNA9. Here we report the nuclear magnetic resonance (NMR) structure of the LCCL domain from human Coch-5b2, where dominant mutations leading to DFNA9 deafness disorder have been identified. The fold is novel. Four of the five known DFNA9 mutations are shown to involve at least partially solvent-exposed residues. Except for the Trp91Arg mutant, expression of these four LCCL mutants resulted in misfolded proteins. These results suggest that Trp91 participates in the interaction with a binding partner. The unexpected sensitivity of the fold with respect to mutations of solvent-accessible residues might be attributed to interference with the folding pathway of this disulfide-containing domain.
-
-	NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.,Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G EMBO J. 2001 Oct 1;20(19):5347-53. PMID:11574466<ref>PMID:11574466</ref>
-
-	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	</div>
-	<div class="pdbe-citations 1jbi" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Banyai, L]]	+	[[Category: Banyai L]]
-	[[Category: Kaikkonen, A]]	+	[[Category: Kaikkonen A]]
-	[[Category: Liepinsh, E]]	+	[[Category: Liepinsh E]]
-	[[Category: Otting, G]]	+	[[Category: Otting G]]
-	[[Category: Patthy, L]]	+	[[Category: Patthy L]]
-	[[Category: Trexler, M]]	+	[[Category: Trexler M]]
-	[[Category: Weigelt, J]]	+	[[Category: Weigelt J]]
-	~~[[Category: Alpha-beta protein]]~~	+
-	~~[[Category: Structural genomic]]~~	+
-	~~[[Category: Unknown function~~]]	+

OCA at 08:02, 23 February 2022

2022-02-23T08:02:50Z

←Older revision		Revision as of 08:02, 23 February 2022
Line 3:		Line 3:
	<StructureSection load='1jbi' size='340' side='right'caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='1jbi' size='340' side='right'caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://proteopedia.org/fgij/fg.htm?mol=1JBI FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1JBI FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">M13mp18 ([~~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">M13mp18 ([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~~://proteopedia.org/fgij/fg.htm?mol=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [~~http~~://pdbe.org/1jbi PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/1jbi PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=1jbi 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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [https://pdbe.org/1jbi PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [https://www.ebi.ac.uk/pdbsum/1jbi PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1jbi ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[~~http~~://omim.org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref> <ref>PMID:9931344</ref> <ref>PMID:10400989</ref> <ref>PMID:11295836</ref> <ref>PMID:14512963</ref> <ref>PMID:12928864</ref>	+	[[https://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[https://omim.org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref> <ref>PMID:9931344</ref> <ref>PMID:10400989</ref> <ref>PMID:11295836</ref> <ref>PMID:14512963</ref> <ref>PMID:12928864</ref>
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Plays a role in the control of cell shape and motility in the trabecular meshwork.<ref>PMID:21886777</ref>	+	[[https://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Plays a role in the control of cell shape and motility in the trabecular meshwork.<ref>PMID:21886777</ref>
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]

OCA at 07:29, 25 November 2020

2020-11-25T07:29:37Z

←Older revision		Revision as of 07:29, 25 November 2020
Line 1:		Line 1:

	==NMR structure of the LCCL domain==		==NMR structure of the LCCL domain==
-	<StructureSection load='1jbi' size='340' side='right' caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>	+	<StructureSection load='1jbi' size='340' side='right'caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=1JBI FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=1JBI FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">M13mp18 ([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">M13mp18 ([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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://pdbe.org/1jbi PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1jbi ProSAT]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://pdbe.org/1jbi PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1jbi ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 35:		Line 35:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Banyai, L]]		[[Category: Banyai, L]]
	[[Category: Kaikkonen, A]]		[[Category: Kaikkonen, A]]

OCA at 09:23, 17 January 2018

2018-01-17T09:23:48Z

←Older revision		Revision as of 09:23, 17 January 2018
Line 1:		Line 1:
		+
	==NMR structure of the LCCL domain==		==NMR structure of the LCCL domain==
	<StructureSection load='1jbi' size='340' side='right' caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='1jbi' size='340' side='right' caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1JBI FirstGlance]. <br>		<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1JBI FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">M13mp18 ([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">M13mp18 ([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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://pdbe.org/1jbi PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi 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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://pdbe.org/1jbi PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1jbi 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/jb/1jbi_consurf.spt"</scriptWhenChecked>	+	<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/jb/1jbi_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>

OCA at 02:22, 10 February 2016

2016-02-10T02:22:36Z

←Older revision		Revision as of 02:22, 10 February 2016
Line 18:		Line 18:
	<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=1jbi ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">

OCA at 04:26, 11 September 2015

2015-09-11T04:26:23Z

←Older revision		Revision as of 04:26, 11 September 2015
Line 2:		Line 2:
	<StructureSection load='1jbi' size='340' side='right' caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='1jbi' size='340' side='right' caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1JBI FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1JBI FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">M13mp18 ([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">M13mp18 ([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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi 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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://pdbe.org/1jbi PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi 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 1jbi" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Banyai, L]]		[[Category: Banyai, L]]
	[[Category: Kaikkonen, A]]		[[Category: Kaikkonen, A]]

OCA at 12:28, 2 January 2015

2015-01-02T12:28:35Z

←Older revision		Revision as of 12:28, 2 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1JBI FirstGlance]. <br>		<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1JBI FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">M13mp18 ([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">M13mp18 ([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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi 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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[http://omim.org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref> <ref>PMID:9931344</ref> <ref>PMID:10400989</ref> <ref>PMID:11295836</ref> <ref>PMID:14512963</ref> <ref>PMID:12928864</ref>		[[http://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[http://omim.org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref> <ref>PMID:9931344</ref> <ref>PMID:10400989</ref> <ref>PMID:11295836</ref> <ref>PMID:14512963</ref> <ref>PMID:12928864</ref>
Line 33:		Line 33:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Banyai, L.]]	+	[[Category: Banyai, L]]
-	[[Category: Kaikkonen, A.]]	+	[[Category: Kaikkonen, A]]
-	[[Category: Liepinsh, E.]]	+	[[Category: Liepinsh, E]]
-	[[Category: Otting, G.]]	+	[[Category: Otting, G]]
-	[[Category: Patthy, L.]]	+	[[Category: Patthy, L]]
-	[[Category: Trexler, M.]]	+	[[Category: Trexler, M]]
-	[[Category: Weigelt, J.]]	+	[[Category: Weigelt, J]]
	[[Category: Alpha-beta protein]]		[[Category: Alpha-beta protein]]
	[[Category: Structural genomic]]		[[Category: Structural genomic]]
	[[Category: Unknown function]]		[[Category: Unknown function]]

OCA at 17:39, 29 September 2014

2014-09-29T17:39:51Z

←Older revision		Revision as of 17:39, 29 September 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_1jbi~~\| ~~PDB~~=1jbi \| ~~SCENE~~= }}	+	==NMR structure of the LCCL domain==
-	===~~NMR~~ structure of the ~~LCCL domain~~===	+	<StructureSection load='1jbi' size='340' side='right' caption='[[1jbi]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
-	~~{{ABSTRACT_PUBMED_11574466}}~~	+	== Structural highlights ==
		+	<table><tr><td colspan='2'>[[1jbi]] 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=1JBI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1JBI FirstGlance]. <br>
		+	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">M13mp18 ([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=1jbi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jbi OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1jbi RCSB], [http://www.ebi.ac.uk/pdbsum/1jbi PDBsum]</span></td></tr>
		+	<table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[http://omim.org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref> <ref>PMID:9931344</ref> <ref>PMID:10400989</ref> <ref>PMID:11295836</ref> <ref>PMID:14512963</ref> <ref>PMID:12928864</ref>
		+	== Function ==
		+	[[http://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Plays a role in the control of cell shape and motility in the trabecular meshwork.<ref>PMID:21886777</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/jb/1jbi_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 ==
		+	The LCCL domain is a recently discovered, conserved protein module named after its presence in Limulus factor C, cochlear protein Coch-5b2 and late gestation lung protein Lgl1. The LCCL domain plays a key role in the autosomal dominant human deafness disorder DFNA9. Here we report the nuclear magnetic resonance (NMR) structure of the LCCL domain from human Coch-5b2, where dominant mutations leading to DFNA9 deafness disorder have been identified. The fold is novel. Four of the five known DFNA9 mutations are shown to involve at least partially solvent-exposed residues. Except for the Trp91Arg mutant, expression of these four LCCL mutants resulted in misfolded proteins. These results suggest that Trp91 participates in the interaction with a binding partner. The unexpected sensitivity of the fold with respect to mutations of solvent-accessible residues might be attributed to interference with the folding pathway of this disulfide-containing domain.

-	~~==Disease==~~	+	NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.,Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G EMBO J. 2001 Oct 1;20(19):5347-53. PMID:11574466<ref>PMID:11574466</ref>
-	~~[[http://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are~~ the ~~cause of~~ deafness ~~autosomal dominant type 9 (DFNA9) [MIM:[http://omim~~.~~org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear~~, ~~the nerve pathways to the brain~~, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, ~~DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete~~, ~~and some patients are minimally affected~~, ~~whereas others suffer from severe balance disturbances and episodes of vertigo~~. ~~Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves~~. ~~These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>~~PMID:~~9806553</ref><ref>PMID:9931344</ref><ref>PMID:10400989</ref><ref>PMID:11295836</ref><ref>PMID:14512963</ref>~~<ref>PMID:~~12928864~~</ref>	+

-	~~==Function==~~	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~[[http:~~/~~/www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Plays~~ a ~~role in the control~~ of ~~cell shape and motility in~~ the ~~trabecular meshwork~~.<~~ref~~>~~PMID:21886777~~</~~ref~~>	+	</div>
-		+	== References ==
-	==~~About this Structure==~~	+	<references/>
-	[[1jbi]] 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=1JBI OCA].	+	__TOC__
-		+	</StructureSection>
-	~~==Reference~~==	+
-	~~<ref group="xtra">PMID:011574466</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Banyai, L.]]		[[Category: Banyai, L.]]

OCA at 22:40, 24 March 2013

2013-03-24T22:40:15Z

←Older revision		Revision as of 22:40, 24 March 2013
Line 1:		Line 1:
-	[[Image:1jbi.png\|left\|200px]]
-
	{{STRUCTURE_1jbi\| PDB=1jbi \| SCENE= }}		{{STRUCTURE_1jbi\| PDB=1jbi \| SCENE= }}
-
	===NMR structure of the LCCL domain===		===NMR structure of the LCCL domain===
		+	{{ABSTRACT_PUBMED_11574466}}

-	~~{{ABSTRACT_PUBMED_11574466}}~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:[http://omim.org/entry/601369 601369]]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.<ref>PMID:9806553</ref><ref>PMID:9931344</ref><ref>PMID:10400989</ref><ref>PMID:11295836</ref><ref>PMID:14512963</ref><ref>PMID:12928864</ref>
		+
		+	==Function==
		+	[[http://www.uniprot.org/uniprot/COCH_HUMAN COCH_HUMAN]] Plays a role in the control of cell shape and motility in the trabecular meshwork.<ref>PMID:21886777</ref>

	==About this Structure==		==About this Structure==
Line 11:		Line 13:

	==Reference==		==Reference==
-	<ref group="xtra">PMID:011574466</ref><references group="xtra"/>	+	<ref group="xtra">PMID:011574466</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Banyai, L.]]		[[Category: Banyai, L.]]

OCA: Protected "1jbi" [edit=sysop:move=sysop]

2012-12-05T11:38:19Z

Protected "1jbi" [edit=sysop:move=sysop]

←Older revision

Revision as of 11:38, 5 December 2012