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5v44
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | + | ==Crystal structure of the SR1 domain of human sacsin== | |
| - | + | <StructureSection load='5v44' size='340' side='right' caption='[[5v44]], [[Resolution|resolution]] 1.56Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[5v44]] is a 3 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5V44 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5V44 FirstGlance]. <br> | |
| - | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr> | |
| - | [[Category: | + | <tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr> |
| + | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[5v45|5v45]], [[5v46|5v46]], [[5v47|5v47]]</td></tr> | ||
| + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5v44 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5v44 OCA], [http://pdbe.org/5v44 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5v44 RCSB], [http://www.ebi.ac.uk/pdbsum/5v44 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5v44 ProSAT]</span></td></tr> | ||
| + | </table> | ||
| + | == Disease == | ||
| + | [[http://www.uniprot.org/uniprot/SACS_HUMAN SACS_HUMAN]] Defects in SACS are the cause of spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:[http://omim.org/entry/270550 270550]]. It is a neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.<ref>PMID:10655055</ref> <ref>PMID:19529988</ref> <ref>PMID:12873855</ref> <ref>PMID:15156359</ref> <ref>PMID:14718708</ref> <ref>PMID:16007637</ref> <ref>PMID:15985586</ref> <ref>PMID:17290461</ref> <ref>PMID:18398442</ref> <ref>PMID:18484239</ref> <ref>PMID:17716690</ref> <ref>PMID:18465152</ref> <ref>PMID:20876471</ref> | ||
| + | == Function == | ||
| + | [[http://www.uniprot.org/uniprot/SACS_HUMAN SACS_HUMAN]] Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.<ref>PMID:19208651</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Gehring, K]] | ||
| + | [[Category: Kozlov, G]] | ||
[[Category: Menade, M]] | [[Category: Menade, M]] | ||
| - | [[Category: | + | [[Category: Alpha-beta sandwich]] |
| - | [[Category: | + | [[Category: Bergerat fold]] |
| + | [[Category: Chaperone]] | ||
Revision as of 13:50, 24 May 2017
Crystal structure of the SR1 domain of human sacsin
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