1a6z - Revision history

OCA at 10:48, 2 August 2023

2023-08-02T10:48:20Z

←Older revision		Revision as of 10:48, 2 August 2023
Line 3:		Line 3:
	<StructureSection load='1a6z' size='340' side='right'caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>		<StructureSection load='1a6z' size='340' side='right'caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1a6z]] is a 4 chain structure with sequence from [~~http://en.wikipedia.org/wiki/Human Human] and [http~~://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://proteopedia.org/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1a6z]] is a 4 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=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>
-	</td></tr><tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat">~~HFE (~~[~~http://www~~.~~ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info~~&~~srchmode=5&id=9606 HUMAN])~~</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]] 2.6Å</td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[~~http~~://proteopedia.org/fgij/fg.htm?mol=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [~~http~~://pdbe.org/1a6z PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/1a6z PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=1a6z 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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [https://pdbe.org/1a6z PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [https://www.ebi.ac.uk/pdbsum/1a6z PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1a6z ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[~~[http~~://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Defects in HFE are a cause of hemochromatosis (HFE) [MIM:[~~http~~://omim.org/entry/235200 235200]]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.<ref>PMID:8696333</ref> <ref>PMID:9106528</ref> <ref>PMID:9024376</ref> <ref>PMID:9620340</ref> <ref>PMID:10194428</ref> <ref>PMID:10575540</ref> <ref>PMID:10401000</ref> <ref>PMID:10094552</ref> [:]<ref>PMID:11423500</ref> <ref>PMID:11446670</ref> <ref>PMID:12542741</ref> <ref>PMID:12737937</ref> <ref>PMID:14633868</ref> <ref>PMID:12584229</ref> <ref>PMID:15046077</ref> <ref>PMID:15965644</ref> <ref>PMID:18157833</ref> Defects in HFE are associated with variegate porphyria (VP) [MIM:[~~http~~://omim.org/entry/176200 176200]]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:[~~http~~://omim.org/entry/612635 612635]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:[http://omim.org/entry/241600 241600]]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.<ref>PMID:16549777</ref> Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.<ref>PMID:3532124</ref> <ref>PMID:1336137</ref> <ref>PMID:7554280</ref> <ref>PMID:4586824</ref> <ref>PMID:8084451</ref> <ref>PMID:12119416</ref> <ref>PMID:12796775</ref> <ref>PMID:16901902</ref> <ref>PMID:16491088</ref> <ref>PMID:17646174</ref> <ref>PMID:18835253</ref> <ref>PMID:18395224</ref> <ref>PMID:19284997</ref>	+	[https://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN] Defects in HFE are a cause of hemochromatosis (HFE) [MIM:[https://omim.org/entry/235200 235200]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.<ref>PMID:8696333</ref> <ref>PMID:9106528</ref> <ref>PMID:9024376</ref> <ref>PMID:9620340</ref> <ref>PMID:10194428</ref> <ref>PMID:10575540</ref> <ref>PMID:10401000</ref> <ref>PMID:10094552</ref> [:]<ref>PMID:11423500</ref> <ref>PMID:11446670</ref> <ref>PMID:12542741</ref> <ref>PMID:12737937</ref> <ref>PMID:14633868</ref> <ref>PMID:12584229</ref> <ref>PMID:15046077</ref> <ref>PMID:15965644</ref> <ref>PMID:18157833</ref> Defects in HFE are associated with variegate porphyria (VP) [MIM:[https://omim.org/entry/176200 176200]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:[https://omim.org/entry/612635 612635]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis.
	== Function ==		== Function ==
-	[~~[http~~://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.<ref>PMID:9465039</ref> ~~[[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.~~	+	[https://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN] Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.<ref>PMID:9465039</ref>
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
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	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Human]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Bennett~~, M J~~]]	+	[[Category: Bennett MJ]]
-	[[Category: Bjorkman~~, P J~~]]	+	[[Category: Bjorkman PJ]]
-	[[Category: Chirino~~, A J~~]]	+	[[Category: Chirino AJ]]
-	[[Category: Feder~~, J N~~]]	+	[[Category: Feder JN]]
-	[[Category: Lebron~~, J A~~]]	+	[[Category: Lebron JA]]
-	[[Category: Mintier~~, G A~~]]	+	[[Category: Mintier GA]]
-	[[Category: Snow~~, P M~~]]	+	[[Category: Snow PM]]
-	[[Category: Vaughn~~, D E]]~~	+	[[Category: Vaughn DE]]
-	~~[[Category: Hereditary hemochromatosis]]~~	+
-	~~[[Category: Hfe]]~~	+
-	~~[[Category: Mhc class i]]~~	+
-	~~[[Category: Mhc class i complex~~]]	+

OCA at 10:07, 18 November 2020

2020-11-18T10:07:57Z

←Older revision		Revision as of 10:07, 18 November 2020
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	==HFE (HUMAN) HEMOCHROMATOSIS PROTEIN==		==HFE (HUMAN) HEMOCHROMATOSIS PROTEIN==
-	<StructureSection load='1a6z' size='340' side='right' caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>	+	<StructureSection load='1a6z' size='340' side='right'caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1a6z]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human] and [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1a6z]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human] and [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://pdbe.org/1a6z PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1a6z ProSAT]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://pdbe.org/1a6z PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1a6z ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 15:		Line 15:
	Check<jmol>		Check<jmol>
	<jmolCheckbox>		<jmolCheckbox>
-	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/a6/1a6z_consurf.spt"</scriptWhenChecked>	+	<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/a6/1a6z_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 30:		Line 30:
	</div>		</div>
	<div class="pdbe-citations 1a6z" style="background-color:#fffaf0;"></div>		<div class="pdbe-citations 1a6z" style="background-color:#fffaf0;"></div>
		+
		+	==See Also==
		+	*[[Beta-2 microglobulin 3D structures\|Beta-2 microglobulin 3D structures]]
		+	*[[Hemochromatosis protein\|Hemochromatosis protein]]
	== References ==		== References ==
	<references/>		<references/>
Line 36:		Line 40:
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Bennett, M J]]		[[Category: Bennett, M J]]
	[[Category: Bjorkman, P J]]		[[Category: Bjorkman, P J]]

OCA at 10:43, 15 November 2017

2017-11-15T10:43:57Z

←Older revision		Revision as of 10:43, 15 November 2017
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		+
	==HFE (HUMAN) HEMOCHROMATOSIS PROTEIN==		==HFE (HUMAN) HEMOCHROMATOSIS PROTEIN==
	<StructureSection load='1a6z' size='340' side='right' caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>		<StructureSection load='1a6z' size='340' side='right' caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[1a6z]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human] and [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>		<table><tr><td colspan='2'>[[1a6z]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human] and [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://pdbe.org/1a6z PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z 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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://pdbe.org/1a6z PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1a6z ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 29:		Line 30:
	</div>		</div>
	<div class="pdbe-citations 1a6z" style="background-color:#fffaf0;"></div>		<div class="pdbe-citations 1a6z" style="background-color:#fffaf0;"></div>
-
-	==See Also==
-	*[[Beta-2 microglobulin\|Beta-2 microglobulin]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 07:32, 8 February 2016

2016-02-08T07:32:39Z

←Older revision		Revision as of 07:32, 8 February 2016
Line 18:		Line 18:
	<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=1a6z ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">

OCA at 15:57, 9 September 2015

2015-09-09T15:57:40Z

←Older revision		Revision as of 15:57, 9 September 2015
Line 2:		Line 2:
	<StructureSection load='1a6z' size='340' side='right' caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>		<StructureSection load='1a6z' size='340' side='right' caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1a6z]] is a 4 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=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1a6z]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human] and [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z 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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://pdbe.org/1a6z PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 28:		Line 28:
	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 1a6z" style="background-color:#fffaf0;"></div>

	==See Also==		==See Also==
Line 36:		Line 37:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
		+	[[Category: Human]]
	[[Category: Bennett, M J]]		[[Category: Bennett, M J]]
	[[Category: Bjorkman, P J]]		[[Category: Bjorkman, P J]]

OCA at 11:37, 22 December 2014

2014-12-22T11:37:21Z

←Older revision		Revision as of 11:37, 22 December 2014
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[1a6z]] is a 4 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=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>		<table><tr><td colspan='2'>[[1a6z]] is a 4 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=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z 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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Defects in HFE are a cause of hemochromatosis (HFE) [MIM:[http://omim.org/entry/235200 235200]]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.<ref>PMID:8696333</ref> <ref>PMID:9106528</ref> <ref>PMID:9024376</ref> <ref>PMID:9620340</ref> <ref>PMID:10194428</ref> <ref>PMID:10575540</ref> <ref>PMID:10401000</ref> <ref>PMID:10094552</ref> [:]<ref>PMID:11423500</ref> <ref>PMID:11446670</ref> <ref>PMID:12542741</ref> <ref>PMID:12737937</ref> <ref>PMID:14633868</ref> <ref>PMID:12584229</ref> <ref>PMID:15046077</ref> <ref>PMID:15965644</ref> <ref>PMID:18157833</ref> Defects in HFE are associated with variegate porphyria (VP) [MIM:[http://omim.org/entry/176200 176200]]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:[http://omim.org/entry/612635 612635]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:[http://omim.org/entry/241600 241600]]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.<ref>PMID:16549777</ref> Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.<ref>PMID:3532124</ref> <ref>PMID:1336137</ref> <ref>PMID:7554280</ref> <ref>PMID:4586824</ref> <ref>PMID:8084451</ref> <ref>PMID:12119416</ref> <ref>PMID:12796775</ref> <ref>PMID:16901902</ref> <ref>PMID:16491088</ref> <ref>PMID:17646174</ref> <ref>PMID:18835253</ref> <ref>PMID:18395224</ref> <ref>PMID:19284997</ref>		[[http://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Defects in HFE are a cause of hemochromatosis (HFE) [MIM:[http://omim.org/entry/235200 235200]]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.<ref>PMID:8696333</ref> <ref>PMID:9106528</ref> <ref>PMID:9024376</ref> <ref>PMID:9620340</ref> <ref>PMID:10194428</ref> <ref>PMID:10575540</ref> <ref>PMID:10401000</ref> <ref>PMID:10094552</ref> [:]<ref>PMID:11423500</ref> <ref>PMID:11446670</ref> <ref>PMID:12542741</ref> <ref>PMID:12737937</ref> <ref>PMID:14633868</ref> <ref>PMID:12584229</ref> <ref>PMID:15046077</ref> <ref>PMID:15965644</ref> <ref>PMID:18157833</ref> Defects in HFE are associated with variegate porphyria (VP) [MIM:[http://omim.org/entry/176200 176200]]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:[http://omim.org/entry/612635 612635]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:[http://omim.org/entry/241600 241600]]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.<ref>PMID:16549777</ref> Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.<ref>PMID:3532124</ref> <ref>PMID:1336137</ref> <ref>PMID:7554280</ref> <ref>PMID:4586824</ref> <ref>PMID:8084451</ref> <ref>PMID:12119416</ref> <ref>PMID:12796775</ref> <ref>PMID:16901902</ref> <ref>PMID:16491088</ref> <ref>PMID:17646174</ref> <ref>PMID:18835253</ref> <ref>PMID:18395224</ref> <ref>PMID:19284997</ref>
Line 36:		Line 36:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Bennett, M J.]]	+	[[Category: Bennett, M J]]
-	[[Category: Bjorkman, P J.]]	+	[[Category: Bjorkman, P J]]
-	[[Category: Chirino, A J.]]	+	[[Category: Chirino, A J]]
-	[[Category: Feder, J N.]]	+	[[Category: Feder, J N]]
-	[[Category: Lebron, J A.]]	+	[[Category: Lebron, J A]]
-	[[Category: Mintier, G A.]]	+	[[Category: Mintier, G A]]
-	[[Category: Snow, P M.]]	+	[[Category: Snow, P M]]
-	[[Category: Vaughn, D E.]]	+	[[Category: Vaughn, D E]]
	[[Category: Hereditary hemochromatosis]]		[[Category: Hereditary hemochromatosis]]
	[[Category: Hfe]]		[[Category: Hfe]]
	[[Category: Mhc class i]]		[[Category: Mhc class i]]
	[[Category: Mhc class i complex]]		[[Category: Mhc class i complex]]

OCA at 17:22, 29 September 2014

2014-09-29T17:22:41Z

←Older revision		Revision as of 17:22, 29 September 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_1a6z~~\| ~~PDB~~=1a6z \| ~~SCENE~~= }}	+	==HFE (HUMAN) HEMOCHROMATOSIS PROTEIN==
-	===~~HFE~~ (~~HUMAN~~) ~~HEMOCHROMATOSIS PROTEIN~~===	+	<StructureSection load='1a6z' size='340' side='right' caption='[[1a6z]], [[Resolution\|resolution]] 2.60Å' scene=''>
-	~~{{ABSTRACT_PUBMED_9546397}}~~	+	== Structural highlights ==
		+	<table><tr><td colspan='2'>[[1a6z]] is a 4 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=1A6Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1A6Z FirstGlance]. <br>
		+	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">HFE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=1a6z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1a6z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1a6z RCSB], [http://www.ebi.ac.uk/pdbsum/1a6z PDBsum]</span></td></tr>
		+	<table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Defects in HFE are a cause of hemochromatosis (HFE) [MIM:[http://omim.org/entry/235200 235200]]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.<ref>PMID:8696333</ref> <ref>PMID:9106528</ref> <ref>PMID:9024376</ref> <ref>PMID:9620340</ref> <ref>PMID:10194428</ref> <ref>PMID:10575540</ref> <ref>PMID:10401000</ref> <ref>PMID:10094552</ref> [:]<ref>PMID:11423500</ref> <ref>PMID:11446670</ref> <ref>PMID:12542741</ref> <ref>PMID:12737937</ref> <ref>PMID:14633868</ref> <ref>PMID:12584229</ref> <ref>PMID:15046077</ref> <ref>PMID:15965644</ref> <ref>PMID:18157833</ref> Defects in HFE are associated with variegate porphyria (VP) [MIM:[http://omim.org/entry/176200 176200]]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:[http://omim.org/entry/612635 612635]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:[http://omim.org/entry/241600 241600]]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.<ref>PMID:16549777</ref> Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.<ref>PMID:3532124</ref> <ref>PMID:1336137</ref> <ref>PMID:7554280</ref> <ref>PMID:4586824</ref> <ref>PMID:8084451</ref> <ref>PMID:12119416</ref> <ref>PMID:12796775</ref> <ref>PMID:16901902</ref> <ref>PMID:16491088</ref> <ref>PMID:17646174</ref> <ref>PMID:18835253</ref> <ref>PMID:18395224</ref> <ref>PMID:19284997</ref>
		+	== Function ==
		+	[[http://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.<ref>PMID:9465039</ref> [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.
		+	== 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/a6/1a6z_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 ==
		+	HFE is an MHC-related protein that is mutated in the iron-overload disease hereditary hemochromatosis. HFE binds to transferrin receptor (TfR) and reduces its affinity for iron-loaded transferrin, implicating HFE in iron metabolism. The 2.6 A crystal structure of HFE reveals the locations of hemochromatosis mutations and a patch of histidines that could be involved in pH-dependent interactions. We also demonstrate that soluble TfR and HFE bind tightly at the basic pH of the cell surface, but not at the acidic pH of intracellular vesicles. TfR:HFE stoichiometry (2:1) differs from TfR:transferrin stoichiometry (2:2), implying a different mode of binding for HFE and transferrin to TfR, consistent with our demonstration that HFE, transferrin, and TfR form a ternary complex.

-	~~==Disease==~~	+	Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.,Lebron JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, Feder JN, Bjorkman PJ Cell. 1998 Apr 3;93(1):111-23. PMID:9546397<ref>PMID:9546397</ref>
-	~~[[http://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Defects in HFE are a cause~~ of hemochromatosis (HFE~~) [MIM:[http://omim.org/entry/235200 235200]]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure,~~ and ~~resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects~~ of the disease usually do not appear until after decades of progressive iron loading.<ref>PMID:8696333</ref><ref>PMID:9106528</ref><ref>PMID:9024376</ref><ref>PMID:9620340</ref><ref>PMID:10194428</ref><ref>PMID:10575540</ref><ref>PMID:10401000</ref><ref>PMID:10094552</ref>[:]<ref>PMID:11423500</ref><ref>PMID:11446670</ref><ref>PMID:12542741</ref><ref>PMID:12737937</ref><ref>PMID:14633868</ref><ref>PMID:12584229</ref><ref>PMID:15046077</ref><ref>PMID:15965644</ref><ref>PMID:18157833</ref> Defects in HFE are associated with ~~variegate porphyria (VP) [MIM:[http://omim~~.~~org/entry/176200 176200]]. Porphyrias are inherited defects in the biosynthesis of heme~~, ~~resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic~~, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, ~~abdominal pain~~, ~~tachycardia~~, ~~hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin~~, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:[http://omim.org/entry/612635 612635]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, ~~diabetic nephropathy leading to end-stage renal disease~~, ~~and diabetic neuropathy~~. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Defects in B2M are the cause of hypercatabolic hypoproteinemia (~~HYCATHYP~~) ~~[MIM~~:[http://omim.org/entry/241600 241600]]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.<ref>PMID:16549777</ref> Note=Beta-~~2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states~~. ~~The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.<ref>~~PMID:3532124</ref><ref>PMID:1336137</ref><ref>PMID:7554280</ref><ref>PMID:4586824</ref><ref>PMID:8084451</ref><ref>PMID:12119416</ref><ref>PMID:12796775</ref><ref>PMID:16901902</ref><ref>PMID:16491088</ref><ref>PMID:17646174</ref><ref>PMID:18835253</ref><ref>PMID:18395224</ref><ref>PMID:~~19284997~~</ref>	+

-	~~==Function==~~	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~[[http:~~/~~/www~~.~~uniprot~~.~~org/uniprot/HFE_HUMAN HFE_HUMAN]] Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin~~.<~~ref~~>~~PMID:9465039~~</~~ref~~> ~~[[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.~~	+	</div>
-		+
-	~~==About this Structure==~~	+
-	[[1a6z]] is a 4 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=1A6Z OCA].	+

	==See Also==		==See Also==
	*[[Beta-2 microglobulin\|Beta-2 microglobulin]]		*[[Beta-2 microglobulin\|Beta-2 microglobulin]]
-		+	== References ==
-	==~~Reference~~==	+	<references/>
-	~~<ref group="xtra">PMID:009546397</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Bennett, M J.]]		[[Category: Bennett, M J.]]

OCA at 06:39, 25 March 2013

2013-03-25T06:39:17Z

←Older revision		Revision as of 06:39, 25 March 2013
Line 1:		Line 1:
-	[[Image:1a6z.png\|left\|200px]]
-
	{{STRUCTURE_1a6z\| PDB=1a6z \| SCENE= }}		{{STRUCTURE_1a6z\| PDB=1a6z \| SCENE= }}
-
	===HFE (HUMAN) HEMOCHROMATOSIS PROTEIN===		===HFE (HUMAN) HEMOCHROMATOSIS PROTEIN===
		+	{{ABSTRACT_PUBMED_9546397}}

-	~~{{ABSTRACT_PUBMED_9546397}}~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Defects in HFE are a cause of hemochromatosis (HFE) [MIM:[http://omim.org/entry/235200 235200]]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.<ref>PMID:8696333</ref><ref>PMID:9106528</ref><ref>PMID:9024376</ref><ref>PMID:9620340</ref><ref>PMID:10194428</ref><ref>PMID:10575540</ref><ref>PMID:10401000</ref><ref>PMID:10094552</ref>[:]<ref>PMID:11423500</ref><ref>PMID:11446670</ref><ref>PMID:12542741</ref><ref>PMID:12737937</ref><ref>PMID:14633868</ref><ref>PMID:12584229</ref><ref>PMID:15046077</ref><ref>PMID:15965644</ref><ref>PMID:18157833</ref> Defects in HFE are associated with variegate porphyria (VP) [MIM:[http://omim.org/entry/176200 176200]]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:[http://omim.org/entry/612635 612635]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:[http://omim.org/entry/241600 241600]]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.<ref>PMID:16549777</ref> Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.<ref>PMID:3532124</ref><ref>PMID:1336137</ref><ref>PMID:7554280</ref><ref>PMID:4586824</ref><ref>PMID:8084451</ref><ref>PMID:12119416</ref><ref>PMID:12796775</ref><ref>PMID:16901902</ref><ref>PMID:16491088</ref><ref>PMID:17646174</ref><ref>PMID:18835253</ref><ref>PMID:18395224</ref><ref>PMID:19284997</ref>
		+
		+	==Function==
		+	[[http://www.uniprot.org/uniprot/HFE_HUMAN HFE_HUMAN]] Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.<ref>PMID:9465039</ref> [[http://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN]] Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.

	==About this Structure==		==About this Structure==
Line 14:		Line 16:

	==Reference==		==Reference==
-	<ref group="xtra">PMID:009546397</ref><references group="xtra"/>	+	<ref group="xtra">PMID:009546397</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Bennett, M J.]]		[[Category: Bennett, M J.]]

OCA at 09:24, 20 October 2012

2012-10-20T09:24:28Z

←Older revision		Revision as of 09:24, 20 October 2012
Line 8:		Line 8:

	==About this Structure==		==About this Structure==
-	[[1a6z]] is a 4 chain structure ~~of [[Beta-2 microglobulin]]~~ 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=1A6Z OCA].	+	[[1a6z]] is a 4 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=1A6Z OCA].

	==See Also==		==See Also==

OCA: Protected "1a6z" [edit=sysop:move=sysop]

2012-07-25T22:45:15Z

Protected "1a6z" [edit=sysop:move=sysop]

←Older revision

Revision as of 22:45, 25 July 2012