7x9g: Difference between revisions

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OCA

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-'''Unreleased structure'''
-The entry 7x9g is ON HOLD
+==Crystal structure of human EDA and EDAR==
+<StructureSection load='7x9g' size='340' side='right'caption='[[7x9g]], [[Resolution|resolution]] 2.80&Aring;' scene=''>
+== Structural highlights ==
+<table><tr><td colspan='2'>[[7x9g]] is a 3 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=7X9G OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7X9G 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=7x9g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7x9g OCA], [https://pdbe.org/7x9g PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7x9g RCSB], [https://www.ebi.ac.uk/pdbsum/7x9g PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7x9g 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.
+<div style="background-color:#fffaf0;">
+== Publication Abstract from PubMed ==
+EDA is a tumor necrosis factor (TNF) family member, which functions together with its cognate receptor EDAR during ectodermal organ development. Mutations of EDA have long been known to cause X-linked hypohidrotic dysplasia in humans characterized by primary defects in teeth, hair and sweat glands. However, the structural information of EDA interaction with EDAR is lacking and the pathogenic mechanism of EDA variants is poorly understood. Here, we report the crystal structure of EDA C-terminal TNF homology domain bound to the N-terminal cysteine-rich domains of EDAR. Together with biochemical, cellular and mouse genetic studies, we show that different EDA mutations lead to varying degrees of ectodermal developmental defects in mice, which is consistent with the clinical observations on human patients. Our work extends the understanding of the EDA signaling mechanism, and provides important insights into the molecular pathogenesis of disease-causing EDA variants.
-Authors: Yu, K., Wan, F., Huang, C., Wu, J., Lei, M.
+Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.,Yu K, Huang C, Wan F, Jiang C, Chen J, Li X, Wang F, Wu J, Lei M, Wu Y Nat Commun. 2023 Feb 11;14(1):767. doi: 10.1038/s41467-023-36367-6. PMID:36765055<ref>PMID:36765055</ref>
-Description: Crystal structure of human EDA and EDAR
+From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
-[[Category: Unreleased Structures]]
+</div>
-[[Category: Wu, J]]
+<div class="pdbe-citations 7x9g" style="background-color:#fffaf0;"></div>
-[[Category: Huang, C]]
-[[Category: Lei, M]]
+==See Also==
-[[Category: Wan, F]]
+*[[Tumor necrosis factor receptor 3D structures|Tumor necrosis factor receptor 3D structures]]
-[[Category: Yu, K]]
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Homo sapiens]]
+[[Category: Large Structures]]
+[[Category: Huang C]]
+[[Category: Lei M]]
+[[Category: Wan F]]
+[[Category: Wu J]]
+[[Category: Yu K]]