1a6z

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==HFE (HUMAN) HEMOCHROMATOSIS PROTEIN==
==HFE (HUMAN) HEMOCHROMATOSIS PROTEIN==
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<StructureSection load='1a6z' size='340' side='right' caption='[[1a6z]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
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<StructureSection load='1a6z' size='340' side='right'caption='[[1a6z]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<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>
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<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>
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</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>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.6&#8491;</td></tr>
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<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>
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<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 ==
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[[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>
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[https://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN] Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:[https://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 ==
== Function ==
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[[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.
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[https://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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
Check<jmol>
<jmolCheckbox>
<jmolCheckbox>
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<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/a6/1a6z_consurf.spt"</scriptWhenChecked>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/a6/1a6z_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>
<text>to colour the structure by Evolutionary Conservation</text>
<text>to colour the structure by Evolutionary Conservation</text>
</jmolCheckbox>
</jmolCheckbox>
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</div>
</div>
<div class="pdbe-citations 1a6z" style="background-color:#fffaf0;"></div>
<div class="pdbe-citations 1a6z" style="background-color:#fffaf0;"></div>
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==See Also==
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*[[Beta-2 microglobulin 3D structures|Beta-2 microglobulin 3D structures]]
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*[[Hemochromatosis protein|Hemochromatosis protein]]
== References ==
== References ==
<references/>
<references/>
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</StructureSection>
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Human]]
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[[Category: Large Structures]]
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[[Category: Bennett, M J]]
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[[Category: Bennett MJ]]
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[[Category: Bjorkman, P J]]
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[[Category: Bjorkman PJ]]
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[[Category: Chirino, A J]]
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[[Category: Chirino AJ]]
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[[Category: Feder, J N]]
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[[Category: Feder JN]]
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[[Category: Lebron, J A]]
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[[Category: Lebron JA]]
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[[Category: Mintier, G A]]
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[[Category: Mintier GA]]
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[[Category: Snow, P M]]
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[[Category: Snow PM]]
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[[Category: Vaughn, D E]]
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[[Category: Vaughn DE]]
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[[Category: Hereditary hemochromatosis]]
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[[Category: Hfe]]
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[[Category: Mhc class i]]
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[[Category: Mhc class i complex]]
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Current revision

HFE (HUMAN) HEMOCHROMATOSIS PROTEIN

PDB ID 1a6z

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