7asc - Revision history

OCA at 12:15, 1 February 2024

OCA — Thu, 01 Feb 2024 12:15:22 GMT

←Older revision		Revision as of 12:15, 1 February 2024
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	<StructureSection load='7asc' size='340' side='right'caption='[[7asc]], [[Resolution\|resolution]] 4.80Å' scene=''>		<StructureSection load='7asc' size='340' side='right'caption='[[7asc]], [[Resolution\|resolution]] 4.80Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[7asc]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/~~Human Human~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7ASC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7ASC FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[7asc]] 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=7ASC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7ASC FirstGlance]. <br>
-	</td></tr><tr id='~~related~~'><td class="sblockLbl"><b>[[~~Related_structure~~\|~~Related~~:]]</b></td><td class="sblockDat"~~><div style='overflow: auto; max-height: 3em;'>[[5nv6\|5nv6]]</div></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]] 4.8Å</td></tr>
-	~~<tr~~ id~~='gene'><td class~~="~~sblockLbl~~">~~<b>~~[[~~Gene~~\|~~Gene:~~]]~~</b></td><td class="sblockDat">TGFBI, BIGH3 ([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'>[https://proteopedia.org/fgij/fg.htm?mol=7asc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7asc OCA], [https://pdbe.org/7asc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7asc RCSB], [https://www.ebi.ac.uk/pdbsum/7asc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7asc 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=7asc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7asc OCA], [https://pdbe.org/7asc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7asc RCSB], [https://www.ebi.ac.uk/pdbsum/7asc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7asc ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[https://omim.org/entry/121820 121820]]; also known as Cogan corneal dystrophy or map-dot-fingerprint type corneal dystrophy. EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. Although this disorder usually is not considered to be inherited, families with autosomal dominant inheritance have been identified.<ref>PMID:16652336</ref> Defects in TGFBI are the cause of corneal dystrophy Groenouw type 1 (CDGG1) [MIM:[https://omim.org/entry/121900 121900]]; also known as corneal dystrophy granular type. Inheritance is autosomal dominant. Corneal dystrophies show progressive opacification of the cornea leading to severe visual handicap.<ref>PMID:15623763</ref> Defects in TGFBI are the cause of corneal dystrophy lattice type 1 (CDL1) [MIM:[https://omim.org/entry/122200 122200]]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[https://omim.org/entry/602082 602082]]; also known as corneal dystrophy of Bowman layer type 2 (CDB2). Defects in TGFBI are the cause of Reis-Buecklers corneal dystrophy (CDRB) [MIM:[https://omim.org/entry/608470 608470]]; also known as corneal dystrophy of Bowman layer type 1 (CDB1).<ref>PMID:15623763</ref> <ref>PMID:9780098</ref> <ref>PMID:10660331</ref> Defects in TGFBI are the cause of lattice corneal dystrophy type 3A (CDL3A) [MIM:[https://omim.org/entry/608471 608471]]. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.<ref>PMID:9497262</ref> <ref>PMID:15790870</ref> Defects in TGFBI are the cause of Avellino corneal dystrophy (ACD) [MIM:[https://omim.org/entry/607541 607541]]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.	+	[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[https://omim.org/entry/121820 121820]; also known as Cogan corneal dystrophy or map-dot-fingerprint type corneal dystrophy. EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. Although this disorder usually is not considered to be inherited, families with autosomal dominant inheritance have been identified.<ref>PMID:16652336</ref> Defects in TGFBI are the cause of corneal dystrophy Groenouw type 1 (CDGG1) [MIM:[https://omim.org/entry/121900 121900]; also known as corneal dystrophy granular type. Inheritance is autosomal dominant. Corneal dystrophies show progressive opacification of the cornea leading to severe visual handicap.<ref>PMID:15623763</ref> Defects in TGFBI are the cause of corneal dystrophy lattice type 1 (CDL1) [MIM:[https://omim.org/entry/122200 122200]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[https://omim.org/entry/602082 602082]; also known as corneal dystrophy of Bowman layer type 2 (CDB2). Defects in TGFBI are the cause of Reis-Buecklers corneal dystrophy (CDRB) [MIM:[https://omim.org/entry/608470 608470]; also known as corneal dystrophy of Bowman layer type 1 (CDB1).<ref>PMID:15623763</ref> <ref>PMID:9780098</ref> <ref>PMID:10660331</ref> Defects in TGFBI are the cause of lattice corneal dystrophy type 3A (CDL3A) [MIM:[https://omim.org/entry/608471 608471]. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.<ref>PMID:9497262</ref> <ref>PMID:15790870</ref> Defects in TGFBI are the cause of Avellino corneal dystrophy (ACD) [MIM:[https://omim.org/entry/607541 607541]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.	+	[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN] Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
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	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Andersen~~, G R~~]]	+	[[Category: Andersen GR]]
-	[[Category: Gadeberg~~, T A.F~~]]	+	[[Category: Gadeberg TAF]]
-	[[Category: Nielsen~~, N S]]~~	+	[[Category: Nielsen NS]]
-	~~[[Category: Extracellular matrix protein]]~~	+
-	~~[[Category: Granular corneal dystrophy]]~~	+
-	~~[[Category: Lattice corneal dystrophy]]~~	+
-	~~[[Category: Protein aggregation]]~~	+
-	~~[[Category: Protein fibril~~]]	+

OCA at 10:11, 7 July 2021

OCA — Wed, 07 Jul 2021 10:11:01 GMT

←Older revision		Revision as of 10:11, 7 July 2021
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	==TGFBIp mutant A546T==		==TGFBIp mutant A546T==
-	<StructureSection load='7asc' size='340' side='right'caption='[[7asc]]' scene=''>	+	<StructureSection load='7asc' size='340' side='right'caption='[[7asc]], [[Resolution\|resolution]] 4.80Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7ASC OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://proteopedia.org/fgij/fg.htm?mol=7ASC FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[7asc]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7ASC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7ASC FirstGlance]. <br>
-	</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=7asc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7asc OCA], [~~http~~://pdbe.org/7asc PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=7asc RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/7asc PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=7asc ProSAT]</span></td></tr>	+	</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[5nv6\|5nv6]]</div></td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TGFBI, BIGH3 ([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'>[https://proteopedia.org/fgij/fg.htm?mol=7asc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7asc OCA], [https://pdbe.org/7asc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7asc RCSB], [https://www.ebi.ac.uk/pdbsum/7asc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7asc ProSAT]</span></td></tr>
	</table>		</table>
		+	== Disease ==
		+	[[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[https://omim.org/entry/121820 121820]]; also known as Cogan corneal dystrophy or map-dot-fingerprint type corneal dystrophy. EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. Although this disorder usually is not considered to be inherited, families with autosomal dominant inheritance have been identified.<ref>PMID:16652336</ref> Defects in TGFBI are the cause of corneal dystrophy Groenouw type 1 (CDGG1) [MIM:[https://omim.org/entry/121900 121900]]; also known as corneal dystrophy granular type. Inheritance is autosomal dominant. Corneal dystrophies show progressive opacification of the cornea leading to severe visual handicap.<ref>PMID:15623763</ref> Defects in TGFBI are the cause of corneal dystrophy lattice type 1 (CDL1) [MIM:[https://omim.org/entry/122200 122200]]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[https://omim.org/entry/602082 602082]]; also known as corneal dystrophy of Bowman layer type 2 (CDB2). Defects in TGFBI are the cause of Reis-Buecklers corneal dystrophy (CDRB) [MIM:[https://omim.org/entry/608470 608470]]; also known as corneal dystrophy of Bowman layer type 1 (CDB1).<ref>PMID:15623763</ref> <ref>PMID:9780098</ref> <ref>PMID:10660331</ref> Defects in TGFBI are the cause of lattice corneal dystrophy type 3A (CDL3A) [MIM:[https://omim.org/entry/608471 608471]]. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.<ref>PMID:9497262</ref> <ref>PMID:15790870</ref> Defects in TGFBI are the cause of Avellino corneal dystrophy (ACD) [MIM:[https://omim.org/entry/607541 607541]]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.
		+	== Function ==
		+	[[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Protein aggregation in the outermost layers of the cornea, which can lead to cloudy vision and in severe cases blindness, is linked to mutations in the extracellular matrix protein transforming growth factor-beta-induced protein (TGFBIp). Among the most frequent pathogenic mutations are R124H and R555W, both associated with granular corneal dystrophy (GCD) characterized by the early-onset formation of amorphous aggregates. The molecular mechanisms of protein aggregation in GCD are largely unknown. In this study, we determined the crystal structures of R124H, R555W, and the lattice corneal dystrophy-associated A546T. Although there were no changes in the monomeric TGFBIp structure of any mutant that would explain their propensity to aggregate, R124H and R555W demonstrated a new dimer interface in the crystal packing, which is not present in wildtype TGFBIp or A546T. This interface, as seen in both the R124H and R555W structures, involves residue 124 of the first TGFBIp molecule and 555 in the second. The interface is not permitted by the Arg124 and Arg555 residues of wildtype TGFBIp and may play a central role in the aggregation exhibited by R124H and R555W in vivo. Using cross-linking mass spectrometry and in-line size exclusion chromatography-small-angle X-ray scattering, we characterized a dimer formed by wildtype and mutant TGFBIps in solution. Dimerization in solution also involves interactions between the N- and C-terminal domains of two TGFBIp molecules but was not identical to the crystal packing dimerization. TGFBIp-targeted interventions that disrupt the R124H/R555W crystal packing dimer interface might offer new therapeutic opportunities to treat patients with GCD.
		+
		+	Mutation-induced dimerization of transforming growth factor-beta-induced protein may drive protein aggregation in granular corneal dystrophy.,Nielsen NS, Gadeberg TAF, Poulsen ET, Harwood SL, Weberskov CE, Pedersen JS, Andersen GR, Enghild JJ J Biol Chem. 2021 Jun 4;297(1):100858. doi: 10.1016/j.jbc.2021.100858. PMID:34097874<ref>PMID:34097874</ref>
		+
		+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
		+	</div>
		+	<div class="pdbe-citations 7asc" style="background-color:#fffaf0;"></div>
		+	== References ==
		+	<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
		+	[[Category: Human]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Andersen GR]]	+	[[Category: Andersen, G R]]
-	[[Category: Gadeberg ~~TAF~~]]	+	[[Category: Gadeberg, T A.F]]
-	[[Category: Nielsen NS]]	+	[[Category: Nielsen, N S]]
		+	[[Category: Extracellular matrix protein]]
		+	[[Category: Granular corneal dystrophy]]
		+	[[Category: Lattice corneal dystrophy]]
		+	[[Category: Protein aggregation]]
		+	[[Category: Protein fibril]]

OCA at 10:36, 24 December 2020

OCA — Thu, 24 Dec 2020 10:36:53 GMT

←Older revision		Revision as of 10:36, 24 December 2020
Line 1:		Line 1:
-	'''Unreleased structure'''

-	~~The entry~~ 7asc is ~~ON HOLD until sometime in~~ the ~~future~~	+	==TGFBIp mutant A546T==
-		+	<StructureSection load='7asc' size='340' side='right'caption='[[7asc]]' scene=''>
-	~~Authors~~:	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7ASC OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=7ASC FirstGlance]. <br>
-	~~Description~~:	+	</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=7asc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7asc OCA], [http://pdbe.org/7asc PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=7asc RCSB], [http://www.ebi.ac.uk/pdbsum/7asc PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=7asc ProSAT]</span></td></tr>
-	[[Category: ~~Unreleased Structures~~]]	+	</table>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Large Structures]]
		+	[[Category: Andersen GR]]
		+	[[Category: Gadeberg TAF]]
		+	[[Category: Nielsen NS]]

OCA: Protected "7asc" [edit=sysop:move=sysop]

OCA — Wed, 04 Nov 2020 05:23:25 GMT

Protected "7asc" [edit=sysop:move=sysop]

←Older revision

Revision as of 05:23, 4 November 2020

OCA: New page: '''Unreleased structure''' The entry 7asc is ON HOLD until sometime in the future Authors: Description: Category: Unreleased Structures

OCA — Wed, 04 Nov 2020 05:23:24 GMT

New page: '''Unreleased structure''' The entry 7asc is ON HOLD until sometime in the future Authors: Description: Category: Unreleased Structures

New page

'''Unreleased structure'''

The entry 7asc is ON HOLD until sometime in the future

Authors:

Description:
[[Category: Unreleased Structures]]