View source for 3lbx


==Crystal Structure of the Erythrocyte Spectrin Tetramerization Domain Complex==
<StructureSection load='3lbx' size='340' side='right'caption='[[3lbx]], [[Resolution|resolution]] 2.80&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[3lbx]] is a 2 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=3LBX OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3LBX 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]] 2.8&#8491;</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=3lbx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3lbx OCA], [https://pdbe.org/3lbx PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3lbx RCSB], [https://www.ebi.ac.uk/pdbsum/3lbx PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3lbx ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN] Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2) [MIM:[https://omim.org/entry/130600 130600]. EL2 is a Rhesus-unlinked 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.<ref>PMID:2794061</ref> <ref>PMID:8018926</ref> <ref>PMID:1679439</ref> <ref>PMID:1878597</ref> <ref>PMID:2568862</ref> <ref>PMID:1541680</ref> <ref>PMID:8364215</ref> <ref>PMID:2384601</ref> <ref>PMID:1638030</ref> <ref>PMID:2568861</ref> <ref>PMID:8193371</ref> <ref>PMID:7772539</ref>   Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:[https://omim.org/entry/266140 266140]. HPP is an autosomal recessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.<ref>PMID:1878597</ref>   Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3) [MIM:[https://omim.org/entry/270970 270970]; also known as hereditary spherocytosis type 3 (HS3). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.
== Function ==
[https://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN] Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.
== 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/lb/3lbx_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=3lbx ConSurf].
<div style="clear:both"></div>

==See Also==
*[[Spectrin|Spectrin]]
*[[Spectrin 3D structures|Spectrin 3D structures]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Harper SL]]
[[Category: Ipsaro JJ]]
[[Category: Marmorstein R]]
[[Category: Messick TE]]
[[Category: Mondragon A]]
[[Category: Speicher DW]]