2ltc - Revision history

OCA at 06:57, 1 May 2024

2024-05-01T06:57:16Z

←Older revision		Revision as of 06:57, 1 May 2024
Line 4:		Line 4:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2ltc]] 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=2LTC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LTC FirstGlance]. <br>		<table><tr><td colspan='2'>[[2ltc]] 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=2LTC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LTC FirstGlance]. <br>
-	</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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [https://pdbe.org/2ltc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [https://www.ebi.ac.uk/pdbsum/2ltc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ltc ProSAT]</span></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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [https://pdbe.org/2ltc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [https://www.ebi.ac.uk/pdbsum/2ltc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ltc ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 10:		Line 11:
	== 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;">
-	== Publication Abstract from PubMed ==
-	Hereditary mutations in the transforming growth factor beta induced (TGFBI) gene cause phenotypically distinct corneal dystrophies characterized by protein deposition in cornea. We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/betaig-h3), associated with granular corneal dystrophy type 1, is significantly less susceptible to proteolysis by thermolysin and trypsin than the WT domain. High-resolution liquid-state NMR of the WT and Arg555Trp mutant FAS1-4 domains revealed very similar structures except for the region around position 555. The Arg555Trp substitution causes Trp555 to be buried in an otherwise empty hydrophobic cavity of the FAS1-4 domain. The first thermolysin cleavage in the core of the FAS1-4 domain occurs on the N-terminal side of Leu558 adjacent to the Arg555 mutation. MD simulations indicated that the C-terminal end of helix alpha3' containing this cleavage site is less flexible in the mutant domain, explaining the observed proteolytic resistance. This structural change also alters the electrostatic properties, which may explain increased propensity of the mutant to aggregate in vitro with 2,2,2-trifluoroethanol. Based on our results we propose that the Arg555Trp mutation disrupts the normal degradation/turnover of corneal TGFBIp, leading to accumulation and increased propensity to aggregate through electrostatic interactions.
-
-	Mutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilization.,Underhaug J, Koldso H, Runager K, Nielsen JT, Sorensen CS, Kristensen T, Otzen DE, Karring H, Malmendal A, Schiott B, Enghild JJ, Nielsen NC Biochim Biophys Acta. 2013 Oct 12. pii: S1570-9639(13)00366-X. doi:, 10.1016/j.bbapap.2013.10.008. PMID:24129074<ref>PMID:24129074</ref>
-
-	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	</div>
-	<div class="pdbe-citations 2ltc" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>

OCA at 13:08, 22 February 2023

2023-02-22T13:08:59Z

←Older revision		Revision as of 13:08, 22 February 2023
Line 1:		Line 1:

	==Fas1-4, R555W==		==Fas1-4, R555W==
-	<StructureSection load='2ltc' size='340' side='right'caption='[[2ltc~~]], [[NMR_Ensembles_of_Models \| 10 NMR models~~]]' scene=''>	+	<StructureSection load='2ltc' size='340' side='right'caption='[[2ltc]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2ltc]] 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=2LTC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LTC FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2ltc]] 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=2LTC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LTC 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;'>[[2ltb\|2ltb]]</div></td></tr>~~	+	</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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [https://pdbe.org/2ltc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [https://www.ebi.ac.uk/pdbsum/2ltc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ltc ProSAT]</span></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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [https://pdbe.org/2ltc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [https://www.ebi.ac.uk/pdbsum/2ltc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ltc 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 ==
Line 25:		Line 23:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Nielsen, N]]	+	[[Category: Nielsen N]]
-	[[Category: Runager, K]]	+	[[Category: Runager K]]
-	[[Category: Underhaug, J]]	+	[[Category: Underhaug J]]
-	~~[[Category: Unknown function~~]]	+

OCA at 10:52, 19 May 2021

2021-05-19T10:52:47Z

←Older revision		Revision as of 10:52, 19 May 2021
Line 1:		Line 1:

	==Fas1-4, R555W==		==Fas1-4, R555W==
-	<StructureSection load='2ltc' size='340' side='right' caption='[[2ltc]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>	+	<StructureSection load='2ltc' size='340' side='right'caption='[[2ltc]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2ltc]] 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=2LTC OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2LTC FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2ltc]] 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=2LTC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LTC FirstGlance]. <br>
-	</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2ltb\|2ltb]]</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;'>[[2ltb\|2ltb]]</div></td></tr>
-	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TGFBI, BIGH3 ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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'>[~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [~~http~~://pdbe.org/2ltc PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2ltc PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2ltc 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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [https://pdbe.org/2ltc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [https://www.ebi.ac.uk/pdbsum/2ltc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ltc ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[~~http~~://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:[~~http~~://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:[~~http~~://omim.org/entry/122200 122200]]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[~~http~~://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:[~~http~~://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:[~~http~~://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:[~~http~~://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 ==
-	[[~~http~~://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 ==
Line 26:		Line 26:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Nielsen, N]]		[[Category: Nielsen, N]]
	[[Category: Runager, K]]		[[Category: Runager, K]]
	[[Category: Underhaug, J]]		[[Category: Underhaug, J]]
	[[Category: Unknown function]]		[[Category: Unknown function]]

OCA at 19:31, 1 August 2018

2018-08-01T19:31:29Z

←Older revision		Revision as of 19:31, 1 August 2018
Line 1:		Line 1:
		+
	==Fas1-4, R555W==		==Fas1-4, R555W==
	<StructureSection load='2ltc' size='340' side='right' caption='[[2ltc]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>		<StructureSection load='2ltc' size='340' side='right' caption='[[2ltc]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>
Line 5:		Line 6:
	</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2ltb\|2ltb]]</td></tr>		</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2ltb\|2ltb]]</td></tr>
	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TGFBI, BIGH3 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TGFBI, BIGH3 ([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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [http://pdbe.org/2ltc PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [http://www.ebi.ac.uk/pdbsum/2ltc 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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [http://pdbe.org/2ltc PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [http://www.ebi.ac.uk/pdbsum/2ltc PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2ltc ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==

OCA at 00:34, 12 September 2015

2015-09-12T00:34:46Z

←Older revision		Revision as of 00:34, 12 September 2015
Line 5:		Line 5:
	</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2ltb\|2ltb]]</td></tr>		</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2ltb\|2ltb]]</td></tr>
	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TGFBI, BIGH3 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TGFBI, BIGH3 ([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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [http://www.ebi.ac.uk/pdbsum/2ltc 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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [http://pdbe.org/2ltc PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [http://www.ebi.ac.uk/pdbsum/2ltc PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 19:		Line 19:
	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 2ltc" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>

OCA at 18:04, 21 December 2014

2014-12-21T18:04:57Z

←Older revision		Revision as of 18:04, 21 December 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_2ltc\| PDB~~=2ltc \| ~~SCENE~~= }}	+	==Fas1-4, R555W==
-	===~~Fas1~~-4, ~~R555W~~===	+	<StructureSection load='2ltc' size='340' side='right' caption='[[2ltc]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>
-	~~{{ABSTRACT_PUBMED_24129074}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[2ltc]] 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=2LTC OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2LTC FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2ltb\|2ltb]]</td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">TGFBI, BIGH3 ([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=2ltc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ltc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ltc RCSB], [http://www.ebi.ac.uk/pdbsum/2ltc PDBsum]</span></td></tr>
		+	</table>
		+	== Disease ==
	[[http://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[http://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:[http://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:[http://omim.org/entry/122200 122200]]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[http://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:[http://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:[http://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:[http://omim.org/entry/607541 607541]]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.		[[http://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[http://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:[http://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:[http://omim.org/entry/122200 122200]]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[http://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:[http://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:[http://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:[http://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==	+
	[[http://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.		[[http://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 ==
		+	Hereditary mutations in the transforming growth factor beta induced (TGFBI) gene cause phenotypically distinct corneal dystrophies characterized by protein deposition in cornea. We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/betaig-h3), associated with granular corneal dystrophy type 1, is significantly less susceptible to proteolysis by thermolysin and trypsin than the WT domain. High-resolution liquid-state NMR of the WT and Arg555Trp mutant FAS1-4 domains revealed very similar structures except for the region around position 555. The Arg555Trp substitution causes Trp555 to be buried in an otherwise empty hydrophobic cavity of the FAS1-4 domain. The first thermolysin cleavage in the core of the FAS1-4 domain occurs on the N-terminal side of Leu558 adjacent to the Arg555 mutation. MD simulations indicated that the C-terminal end of helix alpha3' containing this cleavage site is less flexible in the mutant domain, explaining the observed proteolytic resistance. This structural change also alters the electrostatic properties, which may explain increased propensity of the mutant to aggregate in vitro with 2,2,2-trifluoroethanol. Based on our results we propose that the Arg555Trp mutation disrupts the normal degradation/turnover of corneal TGFBIp, leading to accumulation and increased propensity to aggregate through electrostatic interactions.

-	~~==About this Structure==~~	+	Mutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilization.,Underhaug J, Koldso H, Runager K, Nielsen JT, Sorensen CS, Kristensen T, Otzen DE, Karring H, Malmendal A, Schiott B, Enghild JJ, Nielsen NC Biochim Biophys Acta. 2013 Oct 12. pii: S1570-9639(13)00366-X. doi:, 10.1016/j.bbapap.2013.10.008. PMID:24129074<ref>PMID:24129074</ref>
-	~~[[2ltc]] 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=2LTC OCA]~~.	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:024129074</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Human]]		[[Category: Human]]
-	[[Category: Nielsen, N.]]	+	[[Category: Nielsen, N]]
-	[[Category: Runager, K.]]	+	[[Category: Runager, K]]
-	[[Category: Underhaug, J.]]	+	[[Category: Underhaug, J]]
	[[Category: Unknown function]]		[[Category: Unknown function]]

OCA at 08:30, 27 November 2013

2013-11-27T08:30:23Z

←Older revision		Revision as of 08:30, 27 November 2013
Line 10:		Line 10:

	==About this Structure==		==About this Structure==
-	[[2ltc]] 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=2LTC OCA].	+	[[2ltc]] 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=2LTC OCA].

	==Reference==		==Reference==
	<ref group="xtra">PMID:024129074</ref><references group="xtra"/><references/>		<ref group="xtra">PMID:024129074</ref><references group="xtra"/><references/>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Nielsen, N.]]		[[Category: Nielsen, N.]]
	[[Category: Runager, K.]]		[[Category: Runager, K.]]
	[[Category: Underhaug, J.]]		[[Category: Underhaug, J.]]
	[[Category: Unknown function]]		[[Category: Unknown function]]

OCA at 08:30, 30 October 2013

2013-10-30T08:30:53Z

←Older revision		Revision as of 08:30, 30 October 2013
Line 1:		Line 1:
	{{STRUCTURE_2ltc\| PDB=2ltc \| SCENE= }}		{{STRUCTURE_2ltc\| PDB=2ltc \| SCENE= }}
	===Fas1-4, R555W===		===Fas1-4, R555W===
		+	{{ABSTRACT_PUBMED_24129074}}

	==Disease==		==Disease==
Line 12:		Line 13:

	==Reference==		==Reference==
-	<references group="xtra"/><references/>	+	<ref group="xtra">PMID:024129074</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Nielsen, N.]]		[[Category: Nielsen, N.]]

OCA at 08:29, 21 August 2013

2013-08-21T08:29:34Z

←Older revision		Revision as of 08:29, 21 August 2013
Line 1:		Line 1:
-	~~'''Unreleased structure'''~~	+	{{STRUCTURE_2ltc\| PDB=2ltc \| SCENE= }}
		+	===Fas1-4, R555W===

-	~~The~~ entry ~~2ltc~~ is ~~ON HOLD~~ ~~until Aug 15 2014~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN]] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[http://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:[http://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:[http://omim.org/entry/122200 122200]]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[http://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:[http://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:[http://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:[http://omim.org/entry/607541 607541]]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.

-	~~Authors~~: ~~Underhaug, J~~., ~~Nielsen~~, N., ~~Runager, K~~.	+	==Function==
		+	[[http://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.

-	~~Description~~: ~~Fas1~~-4, ~~R555W~~	+	==About this Structure==
		+	[[2ltc]] 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=2LTC OCA].
		+
		+	==Reference==
		+	<references group="xtra"/><references/>
		+	[[Category: Homo sapiens]]
		+	[[Category: Nielsen, N.]]
		+	[[Category: Runager, K.]]
		+	[[Category: Underhaug, J.]]
		+	[[Category: Unknown function]]

OCA at 10:26, 19 June 2013

2013-06-19T10:26:07Z

←Older revision		Revision as of 10:26, 19 June 2013
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 2ltc is ON HOLD until ~~Paper Publication~~	+	The entry 2ltc is ON HOLD until Aug 15 2014

	Authors: Underhaug, J., Nielsen, N., Runager, K.		Authors: Underhaug, J., Nielsen, N., Runager, K.

	Description: Fas1-4, R555W		Description: Fas1-4, R555W