4gr7 - Revision history

OCA at 15:54, 14 March 2024

OCA — Thu, 14 Mar 2024 15:54:02 GMT

←Older revision		Revision as of 15:54, 14 March 2024
Line 4:		Line 4:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[4gr7]] 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=4GR7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4GR7 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4gr7]] 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=4GR7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4GR7 FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></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]] 1.7Å</td></tr>
		+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></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=4gr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gr7 OCA], [https://pdbe.org/4gr7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4gr7 RCSB], [https://www.ebi.ac.uk/pdbsum/4gr7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4gr7 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=4gr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gr7 OCA], [https://pdbe.org/4gr7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4gr7 RCSB], [https://www.ebi.ac.uk/pdbsum/4gr7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4gr7 ProSAT]</span></td></tr>
	</table>		</table>
Line 11:		Line 12:
	== Function ==		== Function ==
	[https://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens.		[https://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens.
-	<div style="background-color:#fffaf0;">
-	== Publication Abstract from PubMed ==
-	Some mutants of human gammaD-crystallin are closely linked to congenital cataracts, although the detailed molecular mechanisms of mutant-associated cataract formation are generally not known. Here we report on a recently discovered gammaD-crystallin mutant (W42R) that has been linked to autosomal dominant, congenital cataracts in a Chinese family. The mutant protein is much less soluble and stable than wild-type gammaD-crystallin. We solved the crystal structure of W42R at 1.7 A resolution, which revealed only minor differences from the wild-type structure. Interestingly, the W42R variant is highly susceptible to protease digestion, suggesting the presence of a small population of partially unfolded protein. This partially unfolded species was confirmed and quantified by NMR spectroscopy. Hydrogen/deuterium exchange experiments revealed chemical exchange between the folded and unfolded species. Exposure of wild-type gammaD-crystallin to UV caused damage to the N-terminal domain of the protein, resulting in very similar proteolytic susceptibility as observed for the W42R mutant. Altogether, our combined data allowed us to propose a model for W42R pathogenesis, with the W42R mutant serving as a mimic for photodamaged gammaD-crystallin involved in age-related cataract.
-
-	The human W42R gammaD-crystallin mutant structure provides a link between congenital and age-related cataracts.,Ji F, Jung J, Koharudin LM, Gronenborn AM J Biol Chem. 2013 Jan 4;288(1):99-109. doi: 10.1074/jbc.M112.416354. Epub 2012, Nov 2. PMID:23124202<ref>PMID:23124202</ref>
-
-	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	</div>
-	<div class="pdbe-citations 4gr7" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>

OCA at 07:12, 26 October 2022

OCA — Wed, 26 Oct 2022 07:12:14 GMT

←Older revision		Revision as of 07:12, 26 October 2022
Line 1:		Line 1:

	==The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution==		==The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution==
-	<StructureSection load='4gr7' size='340' side='right' caption='[[4gr7]], [[Resolution\|resolution]] 1.70Å' scene=''>	+	<StructureSection load='4gr7' size='340' side='right'caption='[[4gr7]], [[Resolution\|resolution]] 1.70Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4gr7]] 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=4GR7 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=4GR7 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4gr7]] 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=4GR7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4GR7 FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene>~~</td></tr>~~	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></td></tr>
-	~~<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">CRYGD, CRYG4 ([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'>[https://proteopedia.org/fgij/fg.htm?mol=4gr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gr7 OCA], [https://pdbe.org/4gr7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4gr7 RCSB], [https://www.ebi.ac.uk/pdbsum/4gr7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4gr7 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=4gr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gr7 OCA], [~~http~~://pdbe.org/4gr7 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=4gr7 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/4gr7 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=4gr7 ProSAT]</span></td></tr>	+
	</table>		</table>
	== Disease ==		== Disease ==
-	[~~[http~~://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[~~http~~://omim.org/entry/604219 604219]]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref> <ref>PMID:10688888</ref> <ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[~~http~~://omim.org/entry/601286 601286]]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref> <ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[~~http~~://omim.org/entry/608983 608983]]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[~~http~~://omim.org/entry/115700 115700]]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref>	+	[https://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[https://omim.org/entry/604219 604219]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref> <ref>PMID:10688888</ref> <ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[https://omim.org/entry/601286 601286]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref> <ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[https://omim.org/entry/608983 608983]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[https://omim.org/entry/115700 115700]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref>
	== Function ==		== Function ==
-	[~~[http~~://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens.	+	[https://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 25:		Line 24:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
-	[[Category: ~~Gronenborn, A M~~]]	+	[[Category: Large Structures]]
-	[[Category: ~~Ji, F~~]]	+	[[Category: Gronenborn AM]]
-	[[Category: ~~Jung, J~~]]	+	[[Category: Ji F]]
-	[[Category: ~~Koharudin, L M.I~~]]	+	[[Category: Jung J]]
-	[[Category: ~~Cataract]]~~	+	[[Category: Koharudin LMI]]
-	~~[[Category: Greek key motif]]~~	+
-	~~[[Category: Lens fiber cell]]~~	+
-	~~[[Category: Structural protein~~]]	+

OCA at 14:00, 4 August 2016

OCA — Thu, 04 Aug 2016 14:00:11 GMT

←Older revision		Revision as of 14:00, 4 August 2016
Line 1:		Line 1:
		+
	==The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution==		==The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution==
	<StructureSection load='4gr7' size='340' side='right' caption='[[4gr7]], [[Resolution\|resolution]] 1.70Å' scene=''>		<StructureSection load='4gr7' size='340' side='right' caption='[[4gr7]], [[Resolution\|resolution]] 1.70Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4gr7]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/~~Homo_sapiens Homo sapiens~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4GR7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4GR7 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4gr7]] 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=4GR7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4GR7 FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></td></tr>
-	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">CRYGD, CRYG4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">CRYGD, CRYG4 ([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=4gr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gr7 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4gr7 RCSB], [http://www.ebi.ac.uk/pdbsum/4gr7 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=4gr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gr7 OCA], [http://pdbe.org/4gr7 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4gr7 RCSB], [http://www.ebi.ac.uk/pdbsum/4gr7 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4gr7 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 19:		Line 20:
	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 4gr7" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Gronenborn, A M]]		[[Category: Gronenborn, A M]]
	[[Category: Ji, F]]		[[Category: Ji, F]]

OCA at 11:23, 21 December 2014

OCA — Sun, 21 Dec 2014 11:23:15 GMT

←Older revision		Revision as of 11:23, 21 December 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_4gr7\| PDB=4gr7 \| SCENE= }}~~	+	==The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution==
-	===The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution===	+	<StructureSection load='4gr7' size='340' side='right' caption='[[4gr7]], [[Resolution\|resolution]] 1.70Å' scene=''>
-	~~{{ABSTRACT_PUBMED_23124202}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[4gr7]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4GR7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4GR7 FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">CRYGD, CRYG4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=4gr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gr7 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4gr7 RCSB], [http://www.ebi.ac.uk/pdbsum/4gr7 PDBsum]</span></td></tr>
		+	</table>
		+	== Disease ==
	[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[http://omim.org/entry/604219 604219]]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref> <ref>PMID:10688888</ref> <ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[http://omim.org/entry/601286 601286]]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref> <ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[http://omim.org/entry/608983 608983]]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[http://omim.org/entry/115700 115700]]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref>		[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[http://omim.org/entry/604219 604219]]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref> <ref>PMID:10688888</ref> <ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[http://omim.org/entry/601286 601286]]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref> <ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[http://omim.org/entry/608983 608983]]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[http://omim.org/entry/115700 115700]]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref>
-		+	== Function ==
-	==Function==	+
	[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens.		[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens.
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Some mutants of human gammaD-crystallin are closely linked to congenital cataracts, although the detailed molecular mechanisms of mutant-associated cataract formation are generally not known. Here we report on a recently discovered gammaD-crystallin mutant (W42R) that has been linked to autosomal dominant, congenital cataracts in a Chinese family. The mutant protein is much less soluble and stable than wild-type gammaD-crystallin. We solved the crystal structure of W42R at 1.7 A resolution, which revealed only minor differences from the wild-type structure. Interestingly, the W42R variant is highly susceptible to protease digestion, suggesting the presence of a small population of partially unfolded protein. This partially unfolded species was confirmed and quantified by NMR spectroscopy. Hydrogen/deuterium exchange experiments revealed chemical exchange between the folded and unfolded species. Exposure of wild-type gammaD-crystallin to UV caused damage to the N-terminal domain of the protein, resulting in very similar proteolytic susceptibility as observed for the W42R mutant. Altogether, our combined data allowed us to propose a model for W42R pathogenesis, with the W42R mutant serving as a mimic for photodamaged gammaD-crystallin involved in age-related cataract.

-	~~==About this Structure==~~	+	The human W42R gammaD-crystallin mutant structure provides a link between congenital and age-related cataracts.,Ji F, Jung J, Koharudin LM, Gronenborn AM J Biol Chem. 2013 Jan 4;288(1):99-109. doi: 10.1074/jbc.M112.416354. Epub 2012, Nov 2. PMID:23124202<ref>PMID:23124202</ref>
-	~~[[4gr7]] is~~ a ~~2 chain structure with sequence from [http://en~~.~~wikipedia~~.~~org/wiki/Homo_sapiens Homo sapiens]~~. ~~Full crystallographic information is available from [http~~:/~~/oca~~.~~weizmann~~.ac.il/~~oca-bin/ocashort?id=4GR7 OCA].~~	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:023124202</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Gronenborn, A M.]]	+	[[Category: Gronenborn, A M]]
-	[[Category: Ji, F.]]	+	[[Category: Ji, F]]
-	[[Category: Jung, J.]]	+	[[Category: Jung, J]]
-	[[Category: Koharudin, L M.I.]]	+	[[Category: Koharudin, L M.I]]
	[[Category: Cataract]]		[[Category: Cataract]]
	[[Category: Greek key motif]]		[[Category: Greek key motif]]
	[[Category: Lens fiber cell]]		[[Category: Lens fiber cell]]
	[[Category: Structural protein]]		[[Category: Structural protein]]

OCA at 08:44, 4 September 2013

OCA — Wed, 04 Sep 2013 08:44:06 GMT

←Older revision		Revision as of 08:44, 4 September 2013
Line 1:		Line 1:
	{{STRUCTURE_4gr7\| PDB=4gr7 \| SCENE= }}		{{STRUCTURE_4gr7\| PDB=4gr7 \| SCENE= }}
	===The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution===		===The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution===
-	{{~~ABSTRACT_PUBMED_21031598~~}}	+	{{ABSTRACT_PUBMED_23124202}}

	==Disease==		==Disease==
-	[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[http://omim.org/entry/604219 604219]]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref><ref>PMID:10688888</ref><ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[http://omim.org/entry/601286 601286]]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref><ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[http://omim.org/entry/608983 608983]]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[http://omim.org/entry/115700 115700]]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref>	+	[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[http://omim.org/entry/604219 604219]]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref> <ref>PMID:10688888</ref> <ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[http://omim.org/entry/601286 601286]]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref> <ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[http://omim.org/entry/608983 608983]]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[http://omim.org/entry/115700 115700]]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref>

	==Function==		==Function==
Line 13:		Line 13:

	==Reference==		==Reference==
-	<references group="xtra"/><references/>	+	<ref group="xtra">PMID:023124202</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Gronenborn, A M.]]		[[Category: Gronenborn, A M.]]

OCA at 19:55, 24 March 2013

OCA — Sun, 24 Mar 2013 19:55:40 GMT

←Older revision		Revision as of 19:55, 24 March 2013
Line 1:		Line 1:
-	[[Image:4gr7.jpg\|left\|200px]]
-
	{{STRUCTURE_4gr7\| PDB=4gr7 \| SCENE= }}		{{STRUCTURE_4gr7\| PDB=4gr7 \| SCENE= }}
-
	===The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution===		===The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution===
		+	{{ABSTRACT_PUBMED_21031598}}

		+	==Disease==
		+	[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[http://omim.org/entry/604219 604219]]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref><ref>PMID:10688888</ref><ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[http://omim.org/entry/601286 601286]]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref><ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[http://omim.org/entry/608983 608983]]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[http://omim.org/entry/115700 115700]]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref>
		+
		+	==Function==
		+	[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens.

	==About this Structure==		==About this Structure==
	[[4gr7]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4GR7 OCA].		[[4gr7]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4GR7 OCA].
		+
		+	==Reference==
		+	<references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Gronenborn, A M.]]		[[Category: Gronenborn, A M.]]

OCA at 14:03, 8 November 2012

OCA — Thu, 08 Nov 2012 14:03:27 GMT

←Older revision		Revision as of 14:03, 8 November 2012
Line 1:		Line 1:
-	~~'''Unreleased structure'''~~	+	[[Image:4gr7.jpg\|left\|200px]]

-	~~The entry~~ 4gr7 ~~is ON HOLD~~	+	{{STRUCTURE_4gr7\| PDB=4gr7 \| SCENE= }}

-	~~Authors: Ji, F., Jung, J., Koharudin, L.M.I., Gronenborn, A.M~~.	+	===The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution===

-	~~Description~~: ~~The human W42R Gamma D~~-~~Crystallin Mutant Structure at 1~~.~~7A Resolution~~	+
		+	==About this Structure==
		+	[[4gr7]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4GR7 OCA].
		+	[[Category: Homo sapiens]]
		+	[[Category: Gronenborn, A M.]]
		+	[[Category: Ji, F.]]
		+	[[Category: Jung, J.]]
		+	[[Category: Koharudin, L M.I.]]
		+	[[Category: Cataract]]
		+	[[Category: Greek key motif]]
		+	[[Category: Lens fiber cell]]
		+	[[Category: Structural protein]]

OCA at 07:06, 24 October 2012

OCA — Wed, 24 Oct 2012 07:06:29 GMT

←Older revision		Revision as of 07:06, 24 October 2012
Line 3:		Line 3:
	The entry 4gr7 is ON HOLD		The entry 4gr7 is ON HOLD

-	Authors: Ji, ~~Fangling~~, Jung, ~~Jinwon~~, Koharudin, ~~Leonardus~~ M.I. , Gronenborn, ~~Angela~~ M.	+	Authors: Ji, F., Jung, J., Koharudin, L.M.I., Gronenborn, A.M.

	Description: The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution		Description: The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution

OCA: Protected "4gr7" [edit=sysop:move=sysop]

OCA — Wed, 05 Sep 2012 04:56:37 GMT

Protected "4gr7" [edit=sysop:move=sysop]

←Older revision

Revision as of 04:56, 5 September 2012

OCA: New page: '''Unreleased structure''' The entry 4gr7 is ON HOLD Authors: Ji, Fangling, Jung, Jinwon, Koharudin, Leonardus M.I. , Gronenborn, Angela M. Description: The human W42R Gamma D-Crystall...

OCA — Wed, 05 Sep 2012 04:56:36 GMT

New page: '''Unreleased structure''' The entry 4gr7 is ON HOLD Authors: Ji, Fangling, Jung, Jinwon, Koharudin, Leonardus M.I. , Gronenborn, Angela M. Description: The human W42R Gamma D-Crystall...

New page

'''Unreleased structure'''

The entry 4gr7 is ON HOLD

Authors: Ji, Fangling, Jung, Jinwon, Koharudin, Leonardus M.I. , Gronenborn, Angela M.

Description: The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution