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==Solution structure of the 4.1R FERM alpha lobe domain==
==Solution structure of the 4.1R FERM alpha lobe domain==
<StructureSection load='2rq1' size='340' side='right'caption='[[2rq1]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2rq1' size='340' side='right'caption='[[2rq1]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2rq1]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. 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>
<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>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[1gg3|1gg3]]</div></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">EPB41, E41P ([https://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'>[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>
<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>
</table>
</table>
== Disease ==
== Disease ==
[[https://www.uniprot.org/uniprot/41_HUMAN 41_HUMAN]] Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:[https://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:[https://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.  
[https://www.uniprot.org/uniprot/EPB41_HUMAN EPB41_HUMAN] Hereditary elliptocytosis. The disease is caused by variants affecting the gene represented in this entry.
== Function ==
== Function ==
[[https://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.  
[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>
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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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].
</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].
<div style="clear:both"></div>
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Kohno, T]]
[[Category: Kohno T]]
[[Category: Kusunoki, H]]
[[Category: Kusunoki H]]
[[Category: Actin-binding]]
[[Category: Alternative splicing]]
[[Category: Cytoplasm]]
[[Category: Cytoskeleton]]
[[Category: Elliptocytosis]]
[[Category: Glycoprotein]]
[[Category: Hereditary hemolytic anemia]]
[[Category: Membrane protein]]
[[Category: Nucleus]]
[[Category: Phosphoprotein]]
[[Category: Polymorphism]]
[[Category: Protein]]
[[Category: Pyropoikilocytosis]]
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