4kgl - Revision history

OCA at 15:59, 20 September 2023

OCA — Wed, 20 Sep 2023 15:59:13 GMT

←Older revision		Revision as of 15:59, 20 September 2023
Line 4:		Line 4:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[4kgl]] 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=4KGL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4KGL FirstGlance]. <br>		<table><tr><td colspan='2'>[[4kgl]] 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=4KGL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4KGL FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IDJ:(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC+ACID'>IDJ</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</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]] 2.701Å</td></tr>
		+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IDJ:(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC+ACID'>IDJ</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</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=4kgl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kgl OCA], [https://pdbe.org/4kgl PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4kgl RCSB], [https://www.ebi.ac.uk/pdbsum/4kgl PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4kgl 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=4kgl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kgl OCA], [https://pdbe.org/4kgl PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4kgl RCSB], [https://www.ebi.ac.uk/pdbsum/4kgl PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4kgl ProSAT]</span></td></tr>
	</table>		</table>

OCA at 11:57, 30 November 2022

OCA — Wed, 30 Nov 2022 11:57:48 GMT

←Older revision		Revision as of 11:57, 30 November 2022
Line 1:		Line 1:

	==Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine==		==Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine==
-	<StructureSection load='4kgl' size='340' side='right' caption='[[4kgl]], [[Resolution\|resolution]] 2.70Å' scene=''>	+	<StructureSection load='4kgl' size='340' side='right'caption='[[4kgl]], [[Resolution\|resolution]] 2.70Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4kgl]] 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=4KGL OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=4KGL FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4kgl]] 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=4KGL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4KGL FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IDJ:(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC+ACID'>IDJ</scene>, <scene name='pdbligand=~~NAG~~:~~N-ACETYL~~-D-~~GLUCOSAMINE~~'>~~NAG~~</scene>, <scene name='pdbligand=~~TLA~~:~~L(+)~~-~~TARTARIC+ACID~~'>~~TLA~~</scene>, <scene name='pdbligand=~~MAN~~:~~ALPHA~~-~~D-MANNOSE~~'>~~MAN~~</scene~~></td></tr>~~	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IDJ:(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC+ACID'>IDJ</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</scene></td></tr>
-	~~<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4jxo\|4jxo]], [[4jxp\|4jxp]], [[4kgj\|4kgj]], [[4kh2\|4kh2]]</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=4kgl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kgl OCA], [https://pdbe.org/4kgl PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4kgl RCSB], [https://www.ebi.ac.uk/pdbsum/4kgl PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4kgl ProSAT]</span></td></tr>
-	~~<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">IDUA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>~~	+
-	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/L-iduronidase L-iduronidase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.76 3.2.1.76] </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=4kgl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kgl OCA], [~~http~~://pdbe.org/4kgl PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=4kgl RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/4kgl PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=4kgl ProSAT]</span></td></tr>	+
	</table>		</table>
	== Disease ==		== Disease ==
-	[~~[http~~://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN]] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[~~http~~://omim.org/entry/607014 607014]]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[~~http~~://omim.org/entry/607015 607015]]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[~~http~~://omim.org/entry/607016 607016]]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.	+	[https://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[https://omim.org/entry/607014 607014]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[https://omim.org/entry/607015 607015]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[https://omim.org/entry/607016 607016]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.
		+	== Function ==
		+	[https://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN]
	<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: ~~L-iduronidase~~]]	+	[[Category: Large Structures]]
-	[[Category: Bie, H]]	+	[[Category: Bie H]]
-	[[Category: Goddard-Borger~~, E D~~]]	+	[[Category: Goddard-Borger ED]]
-	[[Category: He, X]]	+	[[Category: He X]]
-	[[Category: James~~, M N.G~~]]	+	[[Category: James MNG]]
-	[[Category: Kermode~~, A R~~]]	+	[[Category: Kermode AR]]
-	[[Category: Withers~~, S G~~]]	+	[[Category: Withers SG]]
-	[[Category: Yin, J]]	+	[[Category: Yin J]]
-	~~[[Category: Beta sandwich]]~~	+
-	~~[[Category: Fibronectin iii domain]]~~	+
-	~~[[Category: Glycosaminoglycan]]~~	+
-	~~[[Category: Glycoside hydrolase family 39]]~~	+
-	~~[[Category: Hydrolase-hydrolase inhibitor complex]]~~	+
-	~~[[Category: Tim barrel~~]]	+

OCA at 16:30, 5 August 2016

OCA — Fri, 05 Aug 2016 16:30:00 GMT

←Older revision		Revision as of 16:30, 5 August 2016
Line 1:		Line 1:
		+
	==Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine==		==Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine==
	<StructureSection load='4kgl' size='340' side='right' caption='[[4kgl]], [[Resolution\|resolution]] 2.70Å' scene=''>		<StructureSection load='4kgl' size='340' side='right' caption='[[4kgl]], [[Resolution\|resolution]] 2.70Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4kgl]] 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=4KGL OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4KGL FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4kgl]] 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=4KGL OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4KGL FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IDJ:(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC+ACID'>IDJ</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IDJ:(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC+ACID'>IDJ</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene></td></tr>
	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4jxo\|4jxo]], [[4jxp\|4jxp]], [[4kgj\|4kgj]], [[4kh2\|4kh2]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4jxo\|4jxo]], [[4jxp\|4jxp]], [[4kgj\|4kgj]], [[4kh2\|4kh2]]</td></tr>
-	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">IDUA ([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">IDUA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/L-iduronidase L-iduronidase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.76 3.2.1.76] </span></td></tr>		<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/L-iduronidase L-iduronidase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.76 3.2.1.76] </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=4kgl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kgl OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4kgl RCSB], [http://www.ebi.ac.uk/pdbsum/4kgl 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=4kgl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kgl OCA], [http://pdbe.org/4kgl PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4kgl RCSB], [http://www.ebi.ac.uk/pdbsum/4kgl PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4kgl 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 4kgl" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: L-iduronidase]]		[[Category: L-iduronidase]]
	[[Category: Bie, H]]		[[Category: Bie, H]]

OCA at 20:17, 25 December 2014

OCA — Thu, 25 Dec 2014 20:17:03 GMT

←Older revision		Revision as of 20:17, 25 December 2014
Line 11:		Line 11:
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN]] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[http://omim.org/entry/607014 607014]]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[http://omim.org/entry/607015 607015]]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[http://omim.org/entry/607016 607016]]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.		[[http://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN]] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[http://omim.org/entry/607014 607014]]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[http://omim.org/entry/607015 607015]]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[http://omim.org/entry/607016 607016]]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.
-	== Function ==
-
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==

OCA at 14:54, 21 December 2014

OCA — Sun, 21 Dec 2014 14:54:35 GMT

←Older revision		Revision as of 14:54, 21 December 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_4kgl\| PDB=4kgl \| SCENE= }}~~	+	==Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine==
-	===Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine===	+	<StructureSection load='4kgl' size='340' side='right' caption='[[4kgl]], [[Resolution\|resolution]] 2.70Å' scene=''>
-	~~{{ABSTRACT_PUBMED_24036510}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[4kgl]] 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=4KGL OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4KGL FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IDJ:(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC+ACID'>IDJ</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene></td></tr>
		+	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4jxo\|4jxo]], [[4jxp\|4jxp]], [[4kgj\|4kgj]], [[4kh2\|4kh2]]</td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">IDUA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
		+	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/L-iduronidase L-iduronidase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.76 3.2.1.76] </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=4kgl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kgl OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4kgl RCSB], [http://www.ebi.ac.uk/pdbsum/4kgl PDBsum]</span></td></tr>
		+	</table>
		+	== Disease ==
	[[http://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN]] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[http://omim.org/entry/607014 607014]]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[http://omim.org/entry/607015 607015]]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[http://omim.org/entry/607016 607016]]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.		[[http://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN]] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[http://omim.org/entry/607014 607014]]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[http://omim.org/entry/607015 607015]]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[http://omim.org/entry/607016 607016]]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.
		+	== Function ==
		+
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Mucopolysaccharidosis type I (MPS I), caused by mutations in the gene encoding alpha-L-iduronidase (IDUA), is one of approximately 70 genetic disorders collectively known as the lysosomal storage diseases. To gain insight into the basis for MPS I, we crystallized human IDUA produced in an Arabidopsis thaliana cgl mutant. IDUA consists of a TIM barrel domain containing the catalytic site, a beta-sandwich domain and a fibronectin-like domain. Structures of IDUA bound to iduronate analogs illustrate the Michaelis complex and reveal a 2,5B conformation in the glycosyl-enzyme intermediate, which suggest a retaining double displacement reaction involving the nucleophilic Glu299 and the general acid/base Glu182. Unexpectedly, the N-glycan attached to Asn372 interacts with iduronate analogs in the active site and is required for enzymatic activity. Finally, these IDUA structures and biochemical analysis of the disease-relevant P533R mutation have enabled us to correlate the effects of mutations in IDUA to clinical phenotypes.

-	~~==About this Structure==~~	+	Insights into mucopolysaccharidosis I from the structure and action of alpha-L-iduronidase.,Bie H, Yin J, He X, Kermode AR, Goddard-Borger ED, Withers SG, James MN Nat Chem Biol. 2013 Sep 11. doi: 10.1038/nchembio.1357. PMID:24036510<ref>PMID:24036510</ref>
-	~~[[4kgl]] 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=4KGL OCA].~~	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:024036510</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: L-iduronidase]]		[[Category: L-iduronidase]]
-	[[Category: Bie, H.]]	+	[[Category: Bie, H]]
-	[[Category: Goddard-Borger, E D.]]	+	[[Category: Goddard-Borger, E D]]
-	[[Category: He, X.]]	+	[[Category: He, X]]
-	[[Category: James, M N.G.]]	+	[[Category: James, M N.G]]
-	[[Category: Kermode, A R.]]	+	[[Category: Kermode, A R]]
-	[[Category: Withers, S G.]]	+	[[Category: Withers, S G]]
-	[[Category: Yin, J.]]	+	[[Category: Yin, J]]
	[[Category: Beta sandwich]]		[[Category: Beta sandwich]]
	[[Category: Fibronectin iii domain]]		[[Category: Fibronectin iii domain]]

OCA at 06:18, 6 November 2013

OCA — Wed, 06 Nov 2013 06:18:39 GMT

←Older revision		Revision as of 06:18, 6 November 2013
Line 2:		Line 2:
	===Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine===		===Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine===
	{{ABSTRACT_PUBMED_24036510}}		{{ABSTRACT_PUBMED_24036510}}
		+
		+	==Disease==
		+	[[http://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN]] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[http://omim.org/entry/607014 607014]]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[http://omim.org/entry/607015 607015]]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[http://omim.org/entry/607016 607016]]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.

	==About this Structure==		==About this Structure==

OCA at 06:53, 29 September 2013

OCA — Sun, 29 Sep 2013 06:53:52 GMT

←Older revision		Revision as of 06:53, 29 September 2013
Line 1:		Line 1:
	{{STRUCTURE_4kgl\| PDB=4kgl \| SCENE= }}		{{STRUCTURE_4kgl\| PDB=4kgl \| SCENE= }}
	===Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine===		===Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine===
		+	{{ABSTRACT_PUBMED_24036510}}

	==About this Structure==		==About this Structure==
	[[4kgl]] 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=4KGL OCA].		[[4kgl]] 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=4KGL OCA].
		+
		+	==Reference==
		+	<ref group="xtra">PMID:024036510</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: L-iduronidase]]		[[Category: L-iduronidase]]

OCA at 04:21, 20 September 2013

OCA — Fri, 20 Sep 2013 04:21:42 GMT

←Older revision		Revision as of 04:21, 20 September 2013
Line 1:		Line 1:
-	~~'''Unreleased~~ structure~~'''~~	+	{{STRUCTURE_4kgl\| PDB=4kgl \| SCENE= }}
		+	===Crystal structure of human alpha-L-iduronidase complex with [2R,3R,4R,5S]-2-carboxy-3,4,5-trihydroxy-piperidine===

-	~~The entry~~ 4kgl is ~~ON HOLD until Paper Publication~~	+	==About this Structure==
-		+	[[4kgl]] 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=4KGL OCA].
-	~~Authors~~: Bie, H., ~~Yin, J~~., He, X., Kermode, A.R.~~, Goddard-Borger, E.D.,~~ Withers, S.G., ~~James, M.N.G~~.	+	[[Category: Homo sapiens]]
-		+	[[Category: L-iduronidase]]
-	~~Description~~:	+	[[Category: Bie, H.]]
		+	[[Category: Goddard-Borger, E D.]]
		+	[[Category: He, X.]]
		+	[[Category: James, M N.G.]]
		+	[[Category: Kermode, A R.]]
		+	[[Category: Withers, S G.]]
		+	[[Category: Yin, J.]]
		+	[[Category: Beta sandwich]]
		+	[[Category: Fibronectin iii domain]]
		+	[[Category: Glycosaminoglycan]]
		+	[[Category: Glycoside hydrolase family 39]]
		+	[[Category: Hydrolase-hydrolase inhibitor complex]]
		+	[[Category: Tim barrel]]

OCA at 04:38, 12 September 2013

OCA — Thu, 12 Sep 2013 04:38:31 GMT

←Older revision		Revision as of 04:38, 12 September 2013
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 4kgl is ON HOLD	+	The entry 4kgl is ON HOLD until Paper Publication

	Authors: Bie, H., Yin, J., He, X., Kermode, A.R., Goddard-Borger, E.D., Withers, S.G., James, M.N.G.		Authors: Bie, H., Yin, J., He, X., Kermode, A.R., Goddard-Borger, E.D., Withers, S.G., James, M.N.G.

	Description:		Description:

OCA at 09:43, 4 September 2013

OCA — Wed, 04 Sep 2013 09:43:19 GMT

←Older revision		Revision as of 09:43, 4 September 2013
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 4kgl is ON HOLD ~~until Paper Publication~~	+	The entry 4kgl is ON HOLD

	Authors: Bie, H., Yin, J., He, X., Kermode, A.R., Goddard-Borger, E.D., Withers, S.G., James, M.N.G.		Authors: Bie, H., Yin, J., He, X., Kermode, A.R., Goddard-Borger, E.D., Withers, S.G., James, M.N.G.

	Description:		Description: