2q71 - Revision history

OCA at 11:24, 30 August 2023

OCA — Wed, 30 Aug 2023 11:24:12 GMT

←Older revision		Revision as of 11:24, 30 August 2023
Line 3:		Line 3:
	<StructureSection load='2q71' size='340' side='right'caption='[[2q71]], [[Resolution\|resolution]] 1.90Å' scene=''>		<StructureSection load='2q71' size='340' side='right'caption='[[2q71]], [[Resolution\|resolution]] 1.90Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2q71]] is a 1 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2Q71 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2q71]] is a 1 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2Q71 FirstGlance]. <br>
-	</td></tr><tr id='~~ligand~~'><td class="sblockLbl"><b>[[~~Ligand~~\|~~Ligands~~:]]</b></td><td class="sblockDat" id="~~ligandDat~~">~~<scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</scene></td></tr>~~	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution\|Resolution]] 1.9Å</td></tr>
-	~~<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max~~-~~height: 3em;'>[[2q6z\|2q6z]]~~, [[~~1ry3~~\|~~1ry3~~]]~~</div>~~</td></tr>	+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</scene></td></tr>
-	<tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat"~~>UROD ([https://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~~'>~~[https://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37]~~ </~~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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [https://pdbe.org/2q71 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [https://www.ebi.ac.uk/pdbsum/2q71 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2q71 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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [https://pdbe.org/2q71 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [https://www.ebi.ac.uk/pdbsum/2q71 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2q71 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[https://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[https://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[https://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>	+	[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[https://omim.org/entry/176100 176100]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[https://omim.org/entry/176090 176090]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[https://omim.org/entry/176100 176100]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.	+	[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 37:		Line 35:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	~~[[Category: Uroporphyrinogen decarboxylase]]~~	+	[[Category: Edwards CQ]]
-	[[Category: Edwards~~, C Q~~]]	+	[[Category: Hill CP]]
-	[[Category: Hill~~, C P~~]]	+	[[Category: Kushner JP]]
-	[[Category: Kushner~~, J P~~]]	+	[[Category: Phillips JD]]
-	[[Category: Phillips~~, J D~~]]	+	[[Category: Stadtmueller BM]]
-	[[Category: Stadtmueller~~, B M~~]]	+	[[Category: Whitby FG]]
-	[[Category: Whitby~~, F G]]~~	+
-	~~[[Category: Lyase]]~~	+
-	~~[[Category: Uroporphyrinogen decarboxylase enzyme urod g168r coproporphyrinogen-iii product complex~~]]	+

OCA at 08:10, 25 June 2021

OCA — Fri, 25 Jun 2021 08:10:40 GMT

←Older revision		Revision as of 08:10, 25 June 2021
Line 1:		Line 1:

	==Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III==		==Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III==
-	<StructureSection load='2q71' size='340' side='right' caption='[[2q71]], [[Resolution\|resolution]] 1.90Å' scene=''>	+	<StructureSection load='2q71' size='340' side='right'caption='[[2q71]], [[Resolution\|resolution]] 1.90Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2q71]] is a 1 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2Q71 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2q71]] is a 1 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2Q71 FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</scene></td></tr>	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</scene></td></tr>
-	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2q6z\|2q6z]], [[1ry3\|1ry3]]</td></tr>	+	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2q6z\|2q6z]], [[1ry3\|1ry3]]</div></td></tr>
-	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">UROD ([~~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">UROD ([https://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/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [~~http~~://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span></td></tr>	+	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [~~http~~://pdbe.org/2q71 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2q71 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2q71 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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [https://pdbe.org/2q71 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [https://www.ebi.ac.uk/pdbsum/2q71 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2q71 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[~~http~~://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[~~http~~://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[~~http~~://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>	+	[[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[https://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[https://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[https://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.	+	[[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
	Check<jmol>		Check<jmol>
	<jmolCheckbox>		<jmolCheckbox>
-	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/q7/2q71_consurf.spt"</scriptWhenChecked>	+	<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/q7/2q71_consurf.spt"</scriptWhenChecked>
	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>		<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>
Line 38:		Line 38:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Uroporphyrinogen decarboxylase]]		[[Category: Uroporphyrinogen decarboxylase]]
	[[Category: Edwards, C Q]]		[[Category: Edwards, C Q]]

OCA at 09:40, 18 October 2017

OCA — Wed, 18 Oct 2017 09:40:20 GMT

←Older revision		Revision as of 09:40, 18 October 2017
Line 1:		Line 1:
		+
	==Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III==		==Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III==
	<StructureSection load='2q71' size='340' side='right' caption='[[2q71]], [[Resolution\|resolution]] 1.90Å' scene=''>		<StructureSection load='2q71' size='340' side='right' caption='[[2q71]], [[Resolution\|resolution]] 1.90Å' scene=''>
Line 7:		Line 8:
	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">UROD ([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">UROD ([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/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span></td></tr>		<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://pdbe.org/2q71 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [http://www.ebi.ac.uk/pdbsum/2q71 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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://pdbe.org/2q71 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [http://www.ebi.ac.uk/pdbsum/2q71 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2q71 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==

OCA at 04:55, 7 February 2016

OCA — Sun, 07 Feb 2016 04:55:06 GMT

←Older revision		Revision as of 04:55, 7 February 2016
Line 21:		Line 21:
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>
	</jmolCheckbox>		</jmolCheckbox>
-	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/~~chain_selection~~.php?pdb_ID=~~2ata~~ ConSurf].	+	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2q71 ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">

OCA at 22:02, 9 September 2015

OCA — Wed, 09 Sep 2015 22:02:49 GMT

←Older revision		Revision as of 22:02, 9 September 2015
Line 7:		Line 7:
	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">UROD ([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">UROD ([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/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span></td></tr>		<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [http://www.ebi.ac.uk/pdbsum/2q71 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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://pdbe.org/2q71 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [http://www.ebi.ac.uk/pdbsum/2q71 PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 31:		Line 31:
	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 2q71" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>

OCA at 15:36, 19 January 2015

OCA — Mon, 19 Jan 2015 15:36:57 GMT

←Older revision		Revision as of 15:36, 19 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2q71]] is a 1 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2Q71 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2q71]] is a 1 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2Q71 FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</scene><br>	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</scene></td></tr>
-	<tr><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2q6z\|2q6z]], [[1ry3\|1ry3]]</td></tr>	+	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2q6z\|2q6z]], [[1ry3\|1ry3]]</td></tr>
-	<tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">UROD ([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">UROD ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span></td></tr>	+	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span></td></tr>
-	<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [http://www.ebi.ac.uk/pdbsum/2q71 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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [http://www.ebi.ac.uk/pdbsum/2q71 PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>		[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>
Line 37:		Line 37:
	[[Category: Human]]		[[Category: Human]]
	[[Category: Uroporphyrinogen decarboxylase]]		[[Category: Uroporphyrinogen decarboxylase]]
-	[[Category: Edwards, C Q.]]	+	[[Category: Edwards, C Q]]
-	[[Category: Hill, C P.]]	+	[[Category: Hill, C P]]
-	[[Category: Kushner, J P.]]	+	[[Category: Kushner, J P]]
-	[[Category: Phillips, J D.]]	+	[[Category: Phillips, J D]]
-	[[Category: Stadtmueller, B M.]]	+	[[Category: Stadtmueller, B M]]
-	[[Category: Whitby, F G.]]	+	[[Category: Whitby, F G]]
	[[Category: Lyase]]		[[Category: Lyase]]
	[[Category: Uroporphyrinogen decarboxylase enzyme urod g168r coproporphyrinogen-iii product complex]]		[[Category: Uroporphyrinogen decarboxylase enzyme urod g168r coproporphyrinogen-iii product complex]]

OCA at 05:26, 3 October 2014

OCA — Fri, 03 Oct 2014 05:26:59 GMT

←Older revision		Revision as of 05:26, 3 October 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_2q71\| PDB=2q71 \| SCENE= }}~~	+	==Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III==
-	===Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III===	+	<StructureSection load='2q71' size='340' side='right' caption='[[2q71]], [[Resolution\|resolution]] 1.90Å' scene=''>
-	~~{{ABSTRACT_PUBMED_17240319}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[2q71]] is a 1 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2Q71 FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</scene><br>
		+	<tr><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2q6z\|2q6z]], [[1ry3\|1ry3]]</td></tr>
		+	<tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">UROD ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
		+	<tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span></td></tr>
		+	<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [http://www.ebi.ac.uk/pdbsum/2q71 PDBsum]</span></td></tr>
		+	<table>
		+	== Disease ==
	[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>		[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>
-		+	== Function ==
-	==Function==	+
	[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.		[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.
		+	== Evolutionary Conservation ==
		+	[[Image:Consurf_key_small.gif\|200px\|right]]
		+	Check<jmol>
		+	<jmolCheckbox>
		+	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/q7/2q71_consurf.spt"</scriptWhenChecked>
		+	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
		+	<text>to colour the structure by Evolutionary Conservation</text>
		+	</jmolCheckbox>
		+	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
		+	<div style="clear:both"></div>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria in humans. The disorder is caused by homozygosity or compound heterozygosity for mutations of the uroporphyrinogen decarboxylase (URO-D) gene. Subnormal URO-D activity results in accumulation of uroporphyrin in the liver, which ultimately mediates the photosensitivity that clinically characterizes HEP. Two previously undescribed URO-D mutations found in a 2-year-old Caucasian boy with HEP, a maternal nonsense mutation (Gln71Stop), and a paternal missense mutation (Gly168Arg) are reported here. Recombinant Gly168Arg URO-D retained 65% of wild-type URO-D activity and studies in Epstein-Barr Virus (EBV)-transformed lymphoblasts indicated that protein levels are reduced, suggesting that the mutant protein might be subjected to accelerated turnover. The crystal structure of Gly168Arg was determined both as the apo-enzyme and with the reaction product bound. These studies revealed little distortion of the active site, but a loop containing residues 167-172 was displaced, possibly indicating small changes in the catalytic geometry or in substrate binding or increased accessibility to a cellular proteolytic pathway. A second pregnancy occurred in this family, and in utero genotyping revealed a fetus heterozygous for the maternal nonsense mutation (URO-D genotype WT/Gln71Stop). A healthy infant was born with no clinical evidence of porphyria.

-	~~==About this Structure==~~	+	Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).,Phillips JD, Whitby FG, Stadtmueller BM, Edwards CQ, Hill CP, Kushner JP Transl Res. 2007 Feb;149(2):85-91. PMID:17240319<ref>PMID:17240319</ref>
-	~~[[2q71]] is a 1 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=2Q71 OCA].~~	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:017240319</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Human]]		[[Category: Human]]
	[[Category: Uroporphyrinogen decarboxylase]]		[[Category: Uroporphyrinogen decarboxylase]]

OCA at 14:14, 12 March 2014

OCA — Wed, 12 Mar 2014 14:14:53 GMT

←Older revision		Revision as of 14:14, 12 March 2014
Line 4:		Line 4:

	==Disease==		==Disease==
-	[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref><ref>PMID:11719352</ref><ref>PMID:2920211</ref><ref>PMID:7706766</ref><ref>PMID:8896428</ref><ref>PMID:9792863</ref><ref>PMID:10338097</ref><ref>PMID:10477430</ref><ref>PMID:11069625</ref><ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref><ref>PMID:8644733</ref><ref>PMID:3775362</ref><ref>PMID:1905636</ref><ref>PMID:1634232</ref><ref>PMID:8176248</ref><ref>PMID:12071824</ref><ref>PMID:15491440</ref><ref>PMID:17240319</ref><ref>PMID:21668429</ref>	+	[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>

	==Function==		==Function==
Line 10:		Line 10:

	==About this Structure==		==About this Structure==
-	[[2q71]] is a 1 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=2Q71 OCA].	+	[[2q71]] is a 1 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=2Q71 OCA].

	==Reference==		==Reference==
-	<ref group="xtra">PMID:017240319~~</ref><ref group="xtra">PMID:017591767~~</ref><references group="xtra"/><references/>	+	<ref group="xtra">PMID:017240319</ref><references group="xtra"/><references/>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Uroporphyrinogen decarboxylase]]		[[Category: Uroporphyrinogen decarboxylase]]
	[[Category: Edwards, C Q.]]		[[Category: Edwards, C Q.]]

OCA at 11:15, 24 March 2013

OCA — Sun, 24 Mar 2013 11:15:49 GMT

←Older revision		Revision as of 11:15, 24 March 2013
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-	[[Image:2q71.png\|left\|200px]]
-
	{{STRUCTURE_2q71\| PDB=2q71 \| SCENE= }}		{{STRUCTURE_2q71\| PDB=2q71 \| SCENE= }}
-
	===Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III===		===Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III===
		+	{{ABSTRACT_PUBMED_17240319}}

-	~~{{ABSTRACT_PUBMED_17240319}}~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref><ref>PMID:11719352</ref><ref>PMID:2920211</ref><ref>PMID:7706766</ref><ref>PMID:8896428</ref><ref>PMID:9792863</ref><ref>PMID:10338097</ref><ref>PMID:10477430</ref><ref>PMID:11069625</ref><ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref><ref>PMID:8644733</ref><ref>PMID:3775362</ref><ref>PMID:1905636</ref><ref>PMID:1634232</ref><ref>PMID:8176248</ref><ref>PMID:12071824</ref><ref>PMID:15491440</ref><ref>PMID:17240319</ref><ref>PMID:21668429</ref>
		+
		+	==Function==
		+	[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.

	==About this Structure==		==About this Structure==
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	==Reference==		==Reference==
-	<ref group="xtra">PMID:017240319</ref><ref group="xtra">PMID:017591767</ref><references group="xtra"/>	+	<ref group="xtra">PMID:017240319</ref><ref group="xtra">PMID:017591767</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Uroporphyrinogen decarboxylase]]		[[Category: Uroporphyrinogen decarboxylase]]

OCA: Protected "2q71" [edit=sysop:move=sysop]

OCA — Mon, 07 Jan 2013 18:48:54 GMT

Protected "2q71" [edit=sysop:move=sysop]

←Older revision

Revision as of 18:48, 7 January 2013