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{{STRUCTURE_1rj7|  PDB=1rj7  |  SCENE=  }}
===Crystal structure of EDA-A1===
{{ABSTRACT_PUBMED_14656435}}


==Disease==
==Crystal structure of EDA-A1==
[[http://www.uniprot.org/uniprot/EDA_HUMAN EDA_HUMAN]] Defects in EDA are the cause of ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:[http://omim.org/entry/305100 305100]]; also known as Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia (XLHED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. XHED is a disease characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. XHED is the most common form of over 150 clinically distinct ectodermal dysplasias.<ref>PMID:8696334</ref><ref>PMID:9683615</ref><ref>PMID:9736768</ref><ref>PMID:11309369</ref><ref>PMID:11416205</ref><ref>PMID:9630076</ref><ref>PMID:9507389</ref><ref>PMID:10469321</ref><ref>PMID:10951256</ref><ref>PMID:11343303</ref><ref>PMID:11378824</ref><ref>PMID:11295832</ref><ref>PMID:11279189</ref><ref>PMID:12225002</ref><ref>PMID:12932274</ref><ref>PMID:17256800</ref><ref>PMID:18231121</ref><ref>PMID:19438931</ref><ref>PMID:19127222</ref><ref>PMID:20486090</ref><ref>PMID:20979233</ref><ref>PMID:22008666</ref><ref>PMID:22350046</ref> Defects in EDA are the cause of tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:[http://omim.org/entry/313500 313500]]. A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).<ref>PMID:16583127</ref><ref>PMID:18657636</ref>  
<StructureSection load='1rj7' size='340' side='right'caption='[[1rj7]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[1rj7]] is a 12 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=1RJ7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1RJ7 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]] 2.3&#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=1rj7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1rj7 OCA], [https://pdbe.org/1rj7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1rj7 RCSB], [https://www.ebi.ac.uk/pdbsum/1rj7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1rj7 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/EDA_HUMAN EDA_HUMAN] Defects in EDA are the cause of ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:[https://omim.org/entry/305100 305100]; also known as Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia (XLHED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. XHED is a disease characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. XHED is the most common form of over 150 clinically distinct ectodermal dysplasias.<ref>PMID:8696334</ref> <ref>PMID:9683615</ref> <ref>PMID:9736768</ref> <ref>PMID:11309369</ref> <ref>PMID:11416205</ref> <ref>PMID:9630076</ref> <ref>PMID:9507389</ref> <ref>PMID:10469321</ref> <ref>PMID:10951256</ref> <ref>PMID:11343303</ref> <ref>PMID:11378824</ref> <ref>PMID:11295832</ref> <ref>PMID:11279189</ref> <ref>PMID:12225002</ref> <ref>PMID:12932274</ref> <ref>PMID:17256800</ref> <ref>PMID:18231121</ref> <ref>PMID:19438931</ref> <ref>PMID:19127222</ref> <ref>PMID:20486090</ref> <ref>PMID:20979233</ref> <ref>PMID:22008666</ref> <ref>PMID:22350046</ref>   Defects in EDA are the cause of tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:[https://omim.org/entry/313500 313500]. A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).<ref>PMID:16583127</ref> <ref>PMID:18657636</ref>  
== Function ==
[https://www.uniprot.org/uniprot/EDA_HUMAN EDA_HUMAN] Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR.
== 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/rj/1rj7_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=1rj7 ConSurf].
<div style="clear:both"></div>
<div style="background-color:#fffaf0;">
== Publication Abstract from PubMed ==
EDA is a tumor necrosis factor family member involved in ectodermal development. Splice variants EDA-A1 and EDA-A2 differ only by the presence of Glu 308 and Val 309 in the expected receptor binding region of EDA-A1 but not EDA-A2. This two amino acid difference functions as a switch controlling receptor specificity. EDA-A1 binds only to EDAR, while EDA-A2 is specific for XEDAR. In order to understand the structural basis of this switch, we determined the X-ray crystal structures of the TNF domain of both EDA-A1 and EDA-A2 at 2.3 A and 2.2 A, respectively. While the backbone conformation around the splice difference is similar in both isoforms, the conformation of the following loop, the surface charge, and the shape of the expected receptor binding site differ significantly.


==Function==
The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity.,Hymowitz SG, Compaan DM, Yan M, Wallweber HJ, Dixit VM, Starovasnik MA, de Vos AM Structure. 2003 Dec;11(12):1513-20. PMID:14656435<ref>PMID:14656435</ref>
[[http://www.uniprot.org/uniprot/EDA_HUMAN EDA_HUMAN]] Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR.  


==About this Structure==
From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
[[1rj7]] is a 12 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1RJ7 OCA].
</div>
 
<div class="pdbe-citations 1rj7" style="background-color:#fffaf0;"></div>
==Reference==
== References ==
<ref group="xtra">PMID:014656435</ref><ref group="xtra">PMID:018160966</ref><references group="xtra"/><references/>
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Ackerly, H.]]
[[Category: Large Structures]]
[[Category: Compaan, D M.]]
[[Category: Ackerly H]]
[[Category: Dixit, V M.]]
[[Category: Compaan DM]]
[[Category: Hymowitz, S G.]]
[[Category: Dixit VM]]
[[Category: Starovasnik, M A.]]
[[Category: Hymowitz SG]]
[[Category: Vos, A M.de.]]
[[Category: Starovasnik MA]]
[[Category: Yan, M.]]
[[Category: Yan M]]
[[Category: Beta-bulge]]
[[Category: De Vos AM]]
[[Category: Eda]]
[[Category: Hormone-growth factor complex]]
[[Category: Morphogen]]
[[Category: Tnf]]

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