2gql: Difference between revisions
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==Solution structure of Human Ni(II)-Sco1== | ==Solution structure of Human Ni(II)-Sco1== | ||
<StructureSection load='2gql' size='340' side='right' caption='[[2gql | <StructureSection load='2gql' size='340' side='right'caption='[[2gql]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2gql]] is a 1 chain structure with sequence from [ | <table><tr><td colspan='2'>[[2gql]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2GQL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2GQL FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> | ||
<tr id=' | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=NI:NICKEL+(II)+ION'>NI</scene></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=2gql FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2gql OCA], [https://pdbe.org/2gql PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2gql RCSB], [https://www.ebi.ac.uk/pdbsum/2gql PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2gql ProSAT]</span></td></tr> | |||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | |||
</table> | </table> | ||
== Disease == | == Disease == | ||
[ | [https://www.uniprot.org/uniprot/SCO1_HUMAN SCO1_HUMAN] Defects in SCO1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:[https://omim.org/entry/220110 220110]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.<ref>PMID:17189203</ref> <ref>PMID:11013136</ref> | ||
== Function == | == Function == | ||
[ | [https://www.uniprot.org/uniprot/SCO1_HUMAN SCO1_HUMAN] Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX.<ref>PMID:17189203</ref> <ref>PMID:15659396</ref> <ref>PMID:16735468</ref> | ||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Banci | [[Category: Large Structures]] | ||
[[Category: Bertini | [[Category: Banci L]] | ||
[[Category: Calderone | [[Category: Bertini I]] | ||
[[Category: Ciofi-Baffoni | [[Category: Calderone V]] | ||
[[Category: Mangani | [[Category: Ciofi-Baffoni S]] | ||
[[Category: Martinelli | [[Category: Mangani S]] | ||
[[Category: Palumaa | [[Category: Martinelli M]] | ||
[[Category: Palumaa P]] | |||
[[Category: Wang | [[Category: Wang S]] | ||