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2rq1
From Proteopedia
(Difference between revisions)
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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]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2rq1]] is a 1 chain structure with sequence from [ | + | <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> |
| - | </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1gg3|1gg3]]</td></tr> | + | </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> |
| - | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">EPB41, E41P ([ | + | <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'>[ | + | <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. |
== 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. |
== 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: Human]] | [[Category: Human]] | ||
| + | [[Category: Large Structures]] | ||
[[Category: Kohno, T]] | [[Category: Kohno, T]] | ||
[[Category: Kusunoki, H]] | [[Category: Kusunoki, H]] | ||
Revision as of 10:35, 7 July 2021
Solution structure of the 4.1R FERM alpha lobe domain
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