2rq1

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{{STRUCTURE_2rq1| PDB=2rq1 | SCENE= }}
 
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===Solution structure of the 4.1R FERM alpha lobe domain===
 
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==Disease==
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==Solution structure of the 4.1R FERM alpha lobe domain==
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[[http://www.uniprot.org/uniprot/41_HUMAN 41_HUMAN]] Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:[http://omim.org/entry/611804 611804]]. EL1 is a Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant, hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:[http://omim.org/entry/266140 266140]]. HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
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<StructureSection load='2rq1' size='340' side='right'caption='[[2rq1]]' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2rq1]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2RQ1 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2RQ1 FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/41_HUMAN 41_HUMAN]] Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes.
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2rq1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2rq1 OCA], [https://pdbe.org/2rq1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2rq1 RCSB], [https://www.ebi.ac.uk/pdbsum/2rq1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2rq1 ProSAT]</span></td></tr>
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==About this Structure==
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</table>
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[[2rq1]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2RQ1 OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/EPB41_HUMAN EPB41_HUMAN] Hereditary elliptocytosis. The disease is caused by variants affecting the gene represented in this entry.
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==Reference==
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== Function ==
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<ref group="xtra">PMID:019338061</ref><references group="xtra"/><references/>
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[https://www.uniprot.org/uniprot/EPB41_HUMAN EPB41_HUMAN] Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).<ref>PMID:23870127</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/rq/2rq1_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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=2rq1 ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Kohno, T.]]
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[[Category: Large Structures]]
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[[Category: Kusunoki, H.]]
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[[Category: Kohno T]]
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[[Category: Actin-binding]]
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[[Category: Kusunoki H]]
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[[Category: Cytoskeleton]]
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[[Category: Elliptocytosis]]
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[[Category: Glycoprotein]]
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[[Category: Hereditary hemolytic anemia]]
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[[Category: Membrane protein]]
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[[Category: Nucleus]]
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[[Category: Phosphoprotein]]
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[[Category: Protein]]
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[[Category: Pyropoikilocytosis]]
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Current revision

Solution structure of the 4.1R FERM alpha lobe domain

PDB ID 2rq1

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