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2vgi
From Proteopedia
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| - | [[Image:2vgi.png|left|200px]] | ||
| - | + | ==HUMAN ERYTHROCYTE PYRUVATE KINASE: R486W MUTANT== | |
| - | + | <StructureSection load='2vgi' size='340' side='right'caption='[[2vgi]], [[Resolution|resolution]] 2.87Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[2vgi]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=1lix 1lix]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2VGI OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2VGI FirstGlance]. <br> | |
| - | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.87Å</td></tr> | |
| - | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=FBP:BETA-FRUCTOSE-1,6-DIPHOSPHATE'>FBP</scene>, <scene name='pdbligand=K:POTASSIUM+ION'>K</scene>, <scene name='pdbligand=MN:MANGANESE+(II)+ION'>MN</scene>, <scene name='pdbligand=PGA:2-PHOSPHOGLYCOLIC+ACID'>PGA</scene></td></tr> | |
| - | == | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2vgi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2vgi OCA], [https://pdbe.org/2vgi PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2vgi RCSB], [https://www.ebi.ac.uk/pdbsum/2vgi PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2vgi ProSAT]</span></td></tr> |
| - | [[2vgi]] is a 4 chain structure with sequence from [ | + | </table> |
| - | + | == Disease == | |
| - | == | + | [https://www.uniprot.org/uniprot/KPYR_HUMAN KPYR_HUMAN] Defects in PKLR are the cause of pyruvate kinase hyperactivity (PKHYP) [MIM:[https://omim.org/entry/102900 102900]; also known as high red cell ATP syndrome. This autosomal dominant phenotype is characterized by increase of red blood cell ATP.<ref>PMID:9090535</ref> Defects in PKLR are the cause of pyruvate kinase deficiency of red cells (PKRD) [MIM:[https://omim.org/entry/266200 266200]. A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. |
| - | + | == Function == | |
| - | + | [https://www.uniprot.org/uniprot/KPYR_HUMAN KPYR_HUMAN] Plays a key role in glycolysis (By similarity). | |
| - | == | + | == 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/vg/2vgi_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/main_output.php?pdb_ID=2vgi ConSurf]. | ||
| + | <div style="clear:both"></div> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: Abraham | + | [[Category: Abraham DJ]] |
| - | [[Category: Bianchi | + | [[Category: Bianchi P]] |
| - | [[Category: Chiarelli | + | [[Category: Chiarelli L]] |
| - | [[Category: Dolzan | + | [[Category: Dolzan M]] |
| - | [[Category: Fortin | + | [[Category: Fortin R]] |
| - | [[Category: Galizzi | + | [[Category: Galizzi A]] |
| - | [[Category: Mattevi | + | [[Category: Mattevi A]] |
| - | [[Category: Valentini | + | [[Category: Valentini G]] |
| - | [[Category: Wang | + | [[Category: Wang C]] |
| - | [[Category: Zanella | + | [[Category: Zanella A]] |
| - | + | ||
| - | + | ||
Current revision
HUMAN ERYTHROCYTE PYRUVATE KINASE: R486W MUTANT
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Categories: Homo sapiens | Large Structures | Abraham DJ | Bianchi P | Chiarelli L | Dolzan M | Fortin R | Galizzi A | Mattevi A | Valentini G | Wang C | Zanella A

