5vsx

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m (Protected "5vsx" [edit=sysop:move=sysop])
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'''Unreleased structure'''
 
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The entry 5vsx is ON HOLD
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==Structure of the Ubl domain of Sacsin==
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<StructureSection load='5vsx' size='340' side='right' caption='[[5vsx]], [[Resolution|resolution]] 2.10&Aring;' scene=''>
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Authors:
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== Structural highlights ==
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<table><tr><td colspan='2'>[[5vsx]] is a 2 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=5VSX OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5VSX FirstGlance]. <br>
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Description:
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SACS, KIAA0730 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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[[Category: Unreleased Structures]]
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<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=5vsx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vsx OCA], [http://pdbe.org/5vsx PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5vsx RCSB], [http://www.ebi.ac.uk/pdbsum/5vsx PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5vsx ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[[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>
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== Function ==
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[[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>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
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[[Category: Human]]
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[[Category: Gehring, K]]
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[[Category: Pande, H]]
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[[Category: Shenker, S]]
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[[Category: Trempe, J F]]
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[[Category: Chaperone]]
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[[Category: Ubiquitin-like]]

Revision as of 11:55, 16 November 2017

Structure of the Ubl domain of Sacsin

5vsx, resolution 2.10Å

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