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| | <StructureSection load='6uy9' size='340' side='right'caption='[[6uy9]], [[Resolution|resolution]] 1.60Å' scene=''> | | <StructureSection load='6uy9' size='340' side='right'caption='[[6uy9]], [[Resolution|resolution]] 1.60Å' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[6uy9]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6UY9 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=6UY9 FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[6uy9]] is a 1 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=6UY9 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6UY9 FirstGlance]. <br> |
| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</scene></td></tr> | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.6Å</td></tr> |
| - | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">STAC3 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</scene></td></tr> |
| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=6uy9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6uy9 OCA], [http://pdbe.org/6uy9 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6uy9 RCSB], [http://www.ebi.ac.uk/pdbsum/6uy9 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6uy9 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=6uy9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6uy9 OCA], [https://pdbe.org/6uy9 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6uy9 RCSB], [https://www.ebi.ac.uk/pdbsum/6uy9 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6uy9 ProSAT]</span></td></tr> |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/STAC3_HUMAN STAC3_HUMAN]] Native American myopathy. | + | [https://www.uniprot.org/uniprot/STAC3_HUMAN STAC3_HUMAN] Native American myopathy. |
| | + | == Function == |
| | + | [https://www.uniprot.org/uniprot/STAC3_HUMAN STAC3_HUMAN] |
| | <div style="background-color:#fffaf0;"> | | <div style="background-color:#fffaf0;"> |
| | == Publication Abstract from PubMed == | | == Publication Abstract from PubMed == |
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| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| | [[Category: Large Structures]] | | [[Category: Large Structures]] |
| - | [[Category: Petegem, F Van]]
| + | [[Category: Rufenach B]] |
| - | [[Category: Rufenach, B]] | + | [[Category: Van Petegem F]] |
| - | [[Category: Protein binding]] | + | |
| - | [[Category: Protein binding domain]]
| + | |
| Structural highlights
Disease
STAC3_HUMAN Native American myopathy.
Function
STAC3_HUMAN
Publication Abstract from PubMed
STAC3 is a soluble protein essential for skeletal muscle excitation-contraction (EC) coupling. Through its tandem SH3 domains, it interacts with the cytosolic II-III loop of the skeletal muscle voltage-gated calcium channel. STAC3 is the target for a mutation (W284S) that causes Native American myopathy, but multiple other sequence variants have been reported. Here, we report a crystal structure of the human STAC3 tandem SH3 domains. We analyzed the effect of five disease-associated variants, spread over both SH3 domains, on their ability to bind to the CaV1.1 II-III loop and on muscle EC coupling. In addition to W284S, we find the F295L and K329N variants to affect both binding and EC coupling. The ability of the K329N variant, located in the second SH3 domain, to affect the interaction highlights the importance of both SH3 domains in association with CaV1.1. Our results suggest that multiple STAC3 variants may cause myopathy.
Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling.,Rufenach B, Christy D, Flucher BE, Bui JM, Gsponer J, Campiglio M, Van Petegem F Structure. 2020 May 27. pii: S0969-2126(20)30174-X. doi:, 10.1016/j.str.2020.05.005. PMID:32492370[1]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
References
- ↑ Rufenach B, Christy D, Flucher BE, Bui JM, Gsponer J, Campiglio M, Van Petegem F. Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling. Structure. 2020 May 27. pii: S0969-2126(20)30174-X. doi:, 10.1016/j.str.2020.05.005. PMID:32492370 doi:http://dx.doi.org/10.1016/j.str.2020.05.005
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