2dig - Revision history

OCA at 11:39, 22 May 2024

2024-05-22T11:39:14Z

← Older revision		Revision as of 11:39, 22 May 2024
Line 1:		Line 1:

	==Solusion structure of the Todor domain of human Lamin-B receptor==		==Solusion structure of the Todor domain of human Lamin-B receptor==
	<StructureSection load='2dig' size='340' side='right'caption='[[2dig~~]], [[NMR_Ensembles_of_Models \| 20 NMR models~~]]' scene=''>		<StructureSection load='2dig' size='340' side='right'caption='[[2dig]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DIG FirstGlance]. <br>		<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DIG FirstGlance]. <br>
	</td></tr><tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat"~~>LBR ([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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [https://pdbe.org/2dig PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [https://www.ebi.ac.uk/pdbsum/2dig PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dig ProSAT], [https://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [https://pdbe.org/2dig PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [https://www.ebi.ac.uk/pdbsum/2dig PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dig ProSAT], [https://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
	[[https://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[https://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[https://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[https://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:20522425</ref>		[https://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[https://omim.org/entry/169400 169400]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[https://omim.org/entry/215140 215140]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[https://omim.org/entry/613471 613471]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:20522425</ref>
	== Function ==		== Function ==
	[[https://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Anchors the lamina and the heterochromatin to the inner nuclear membrane.<ref>PMID:10828963</ref>		[https://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN] Anchors the lamina and the heterochromatin to the inner nuclear membrane.<ref>PMID:10828963</ref>
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 25:		Line 25:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
	[[Category: ~~Human~~]]		[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
	[[Category: Inoue, M]]		[[Category: Inoue M]]
	[[Category: Kigawa, T]]		[[Category: Kigawa T]]
	[[Category: Koshiba, S]]		[[Category: Koshiba S]]
	~~[[Category: Structural genomic~~]]		[[Category: Tochio N]]
	[[Category: Tochio, N]]		[[Category: Yokoyama S]]
	[[Category: Yokoyama, S]]		[[Category: Yoneyama M]]
	[[Category: Yoneyama, M]]
	~~[[Category: Dna binding protein]]~~
	~~[[Category: Integral nuclear envelope inner membrane protein]]~~
	~~[[Category: National project on protein structural and functional analyse]]~~
	~~[[Category: Nppsfa]]~~
	~~[[Category: Nuclear protein]]~~
	~~[[Category: Receptor]]~~
	~~[[Category: Rsgi]]~~
	~~[[Category: Tudor domain~~]]

OCA at 12:03, 3 February 2021

2021-02-03T12:03:31Z

← Older revision		Revision as of 12:03, 3 February 2021
Line 1:		Line 1:

	==Solusion structure of the Todor domain of human Lamin-B receptor==		==Solusion structure of the Todor domain of human Lamin-B receptor==
	<StructureSection load='2dig' size='340' side='right' caption='[[2dig]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2dig' size='340' side='right'caption='[[2dig]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2DIG FirstGlance]. <br>		<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DIG FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">LBR ([~~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">LBR ([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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [~~http~~://pdbe.org/2dig PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2dig PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2dig ProSAT], [~~http~~://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [https://pdbe.org/2dig PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [https://www.ebi.ac.uk/pdbsum/2dig PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dig ProSAT], [https://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
	[[~~http~~://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[~~http~~://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[~~http~~://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[~~http~~://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:20522425</ref>		[[https://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[https://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[https://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[https://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:20522425</ref>
	== Function ==		== Function ==
	[[~~http~~://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Anchors the lamina and the heterochromatin to the inner nuclear membrane.<ref>PMID:10828963</ref>		[[https://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Anchors the lamina and the heterochromatin to the inner nuclear membrane.<ref>PMID:10828963</ref>
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 26:		Line 26:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
			[[Category: Large Structures]]
	[[Category: Inoue, M]]		[[Category: Inoue, M]]
	[[Category: Kigawa, T]]		[[Category: Kigawa, T]]

OCA at 06:34, 30 May 2018

2018-05-30T06:34:20Z

← Older revision		Revision as of 06:34, 30 May 2018
Line 1:		Line 1:

	==Solusion structure of the Todor domain of human Lamin-B receptor==		==Solusion structure of the Todor domain of human Lamin-B receptor==
	<StructureSection load='2dig' size='340' side='right' caption='[[2dig]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2dig' size='340' side='right' caption='[[2dig]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DIG FirstGlance]. <br>		<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DIG FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">LBR ([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">LBR ([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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [http://pdbe.org/2dig PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [http://www.ebi.ac.uk/pdbsum/2dig PDBsum], [http://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [http://pdbe.org/2dig PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [http://www.ebi.ac.uk/pdbsum/2dig PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2dig ProSAT], [http://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</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/di/2dig_consurf.spt"</scriptWhenChecked>		<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/di/2dig_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 03:14, 10 February 2016

2016-02-10T03:14:25Z

← Older revision		Revision as of 03:14, 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=2dig ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
	== References ==		== References ==

OCA at 04:49, 11 September 2015

2015-09-11T04:49:26Z

← Older revision		Revision as of 04:49, 11 September 2015
Line 2:		Line 2:
	<StructureSection load='2dig' size='340' side='right' caption='[[2dig]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2dig' size='340' side='right' caption='[[2dig]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DIG FirstGlance]. <br>		<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DIG FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">LBR ([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">LBR ([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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [http://www.ebi.ac.uk/pdbsum/2dig PDBsum], [http://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [http://pdbe.org/2dig PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [http://www.ebi.ac.uk/pdbsum/2dig PDBsum], [http://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 24:		Line 24:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
	[[Category: ~~Homo sapiens~~]]		[[Category: Human]]
	[[Category: Inoue, M]]		[[Category: Inoue, M]]
	[[Category: Kigawa, T]]		[[Category: Kigawa, T]]

OCA at 16:45, 15 January 2015

2015-01-15T16:45:24Z

← Older revision		Revision as of 16:45, 15 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DIG FirstGlance]. <br>		<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DIG FirstGlance]. <br>
	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">LBR ([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">LBR ([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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [http://www.ebi.ac.uk/pdbsum/2dig PDBsum], [http://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [http://www.ebi.ac.uk/pdbsum/2dig PDBsum], [http://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</span></td></tr>
	<table>		</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[http://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[http://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[http://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:20522425</ref>		[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[http://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[http://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[http://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:20522425</ref>
Line 25:		Line 25:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Inoue, M.]]		[[Category: Inoue, M]]
	[[Category: Kigawa, T.]]		[[Category: Kigawa, T]]
	[[Category: Koshiba, S.]]		[[Category: Koshiba, S]]
	[[Category: ~~RSGI, RIKEN~~ Structural ~~Genomics/Proteomics Initiative.~~]]		[[Category: Structural genomic]]
	[[Category: Tochio, N.]]		[[Category: Tochio, N]]
	[[Category: Yokoyama, S.]]		[[Category: Yokoyama, S]]
	[[Category: Yoneyama, M.]]		[[Category: Yoneyama, M]]
	[[Category: Dna binding protein]]		[[Category: Dna binding protein]]
	[[Category: Integral nuclear envelope inner membrane protein]]		[[Category: Integral nuclear envelope inner membrane protein]]
Line 38:		Line 38:
	[[Category: Nuclear protein]]		[[Category: Nuclear protein]]
	[[Category: Receptor]]		[[Category: Receptor]]
	~~[[Category: Riken structural genomics/proteomics initiative]]~~
	[[Category: Rsgi]]		[[Category: Rsgi]]
	~~[[Category: Structural genomic]]~~
	[[Category: Tudor domain]]		[[Category: Tudor domain]]

OCA at 00:15, 30 September 2014

2014-09-30T00:15:18Z

← Older revision		Revision as of 00:15, 30 September 2014
Line 1:		Line 1:
	~~{{STRUCTURE_2dig\| PDB=2dig \| SCENE= }}~~		==Solusion structure of the Todor domain of human Lamin-B receptor==
	===Solusion structure of the Todor domain of human Lamin-B receptor===		<StructureSection load='2dig' size='340' side='right' caption='[[2dig]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
			== Structural highlights ==
	==Disease==		<table><tr><td colspan='2'>[[2dig]] 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=2DIG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DIG FirstGlance]. <br>
	[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[http://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref><ref>PMID:12618959</ref><ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[http://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref><ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[http://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref><ref>PMID:12618959</ref><ref>PMID:20522425</ref>		</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">LBR ([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=2dig FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dig OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2dig RCSB], [http://www.ebi.ac.uk/pdbsum/2dig PDBsum], [http://www.topsan.org/Proteins/RSGI/2dig TOPSAN]</span></td></tr>
	==Function==		<table>
	[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Anchors the lamina and the heterochromatin to the inner nuclear membrane.<ref>PMID:10828963</ref>		== Disease ==
			[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[http://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[http://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[http://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref> <ref>PMID:12618959</ref> <ref>PMID:20522425</ref>
	==~~About this Structure~~==		== Function ==
	[[~~2dig~~]] ~~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=~~2DIG OCA~~].		[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Anchors the lamina and the heterochromatin to the inner nuclear membrane.<ref>PMID:10828963</ref>
			== Evolutionary Conservation ==
	==~~Reference~~==		[[Image:Consurf_key_small.gif\|200px\|right]]
	<references ~~group="xtra"~~/><~~references~~/>		Check<jmol>
			<jmolCheckbox>
			<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/di/2dig_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>
			== References ==
			<references/>
			__TOC__
			</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Inoue, M.]]		[[Category: Inoue, M.]]

OCA at 23:16, 24 March 2013

2013-03-24T23:16:26Z

← Older revision		Revision as of 23:16, 24 March 2013
Line 1:		Line 1:
	~~[[Image:2dig.png\|left\|200px]]~~

	{{STRUCTURE_2dig\| PDB=2dig \| SCENE= }}		{{STRUCTURE_2dig\| PDB=2dig \| SCENE= }}
			===Solusion structure of the Todor domain of human Lamin-B receptor===

	===~~Solusion~~ structure of the ~~Todor domain~~ of ~~human Lamin~~-~~B receptor===~~		==Disease==
			[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:[http://omim.org/entry/169400 169400]]. PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.<ref>PMID:12118250</ref><ref>PMID:12618959</ref><ref>PMID:14617022</ref> Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:[http://omim.org/entry/215140 215140]]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.<ref>PMID:12118250</ref><ref>PMID:12618959</ref> Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:[http://omim.org/entry/613471 613471]]. It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.<ref>PMID:12118250</ref><ref>PMID:12618959</ref><ref>PMID:20522425</ref>

			==Function==
			[[http://www.uniprot.org/uniprot/LBR_HUMAN LBR_HUMAN]] Anchors the lamina and the heterochromatin to the inner nuclear membrane.<ref>PMID:10828963</ref>

	==About this Structure==		==About this Structure==
	[[2dig]] 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=2DIG OCA].		[[2dig]] 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=2DIG OCA].

			==Reference==
			<references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Inoue, M.]]		[[Category: Inoue, M.]]

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

2013-01-06T09:40:06Z

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

← Older revision	Revision as of 09:40, 6 January 2013
(No difference)

OCA at 09:40, 6 January 2013

2013-01-06T09:40:03Z

← Older revision		Revision as of 09:40, 6 January 2013
Line 1:		Line 1:
	~~{{Seed}}~~
	[[Image:2dig.png\|left\|200px]]		[[Image:2dig.png\|left\|200px]]

	~~<!--~~
	~~The line below this paragraph, containing "STRUCTURE_2dig", 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_2dig\| PDB=2dig \| SCENE= }}		{{STRUCTURE_2dig\| PDB=2dig \| SCENE= }}

	===Solusion structure of the Todor domain of human Lamin-B receptor===		===Solusion structure of the Todor domain of human Lamin-B receptor===


	~~==Disease==~~
	Known disease associated with this structure: Greenberg dysplasia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024 600024]], Pelger-Huet anomaly OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024 600024]]

	==About this Structure==		==About this Structure==
	~~2DIG~~ 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=2DIG OCA].		[[2dig]] 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=2DIG OCA].
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Inoue, M.]]		[[Category: Inoue, M.]]
Line 26:		Line 16:
	[[Category: Yokoyama, S.]]		[[Category: Yokoyama, S.]]
	[[Category: Yoneyama, M.]]		[[Category: Yoneyama, M.]]
			[[Category: Dna binding protein]]
	[[Category: Integral nuclear envelope inner membrane protein]]		[[Category: Integral nuclear envelope inner membrane protein]]
	[[Category: National project on protein structural and functional analyse]]		[[Category: National project on protein structural and functional analyse]]
Line 35:		Line 26:
	[[Category: Structural genomic]]		[[Category: Structural genomic]]
	[[Category: Tudor domain]]		[[Category: Tudor domain]]

	~~''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Nov 16 10:09:52 2008''~~