5v46

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'''Unreleased structure'''
 
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The entry 5v46 is ON HOLD until Paper Publication
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==Crystal structure of the I113M, F270M, K291M, L308M mutant of SR1 domain of human sacsin==
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<StructureSection load='5v46' size='340' side='right' caption='[[5v46]], [[Resolution|resolution]] 1.80&Aring;' scene=''>
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Authors: Menade, M., Kozlov, G., Gehring, K.
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== Structural highlights ==
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<table><tr><td colspan='2'>[[5v46]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5V46 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5V46 FirstGlance]. <br>
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Description: Crystal structure of the I113M, F270M, K291M, L308M mutant of SR1 domain of human sacsin
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</td></tr><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>
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[[Category: Unreleased Structures]]
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<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[5v44|5v44]], [[5v45|5v45]], [[5v47|5v47]]</td></tr>
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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=5v46 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5v46 OCA], [http://pdbe.org/5v46 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5v46 RCSB], [http://www.ebi.ac.uk/pdbsum/5v46 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5v46 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: Gehring, K]]
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[[Category: Kozlov, G]]
[[Category: Menade, M]]
[[Category: Menade, M]]
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[[Category: Kozlov, G]]
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[[Category: Alpha-beta sandwich]]
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[[Category: Gehring, K]]
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[[Category: Bergerat fold]]
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[[Category: Chaperone]]

Revision as of 13:51, 24 May 2017

Crystal structure of the I113M, F270M, K291M, L308M mutant of SR1 domain of human sacsin

5v46, resolution 1.80Å

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