1iur

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{{STRUCTURE_1iur| PDB=1iur | SCENE= }}
 
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===DnaJ domain of human KIAA0730 protein===
 
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==Disease==
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==DnaJ domain of human KIAA0730 protein==
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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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<StructureSection load='1iur' size='340' side='right'caption='[[1iur]]' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[1iur]] 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=1IUR OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1IUR FirstGlance]. <br>
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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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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1iur FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1iur OCA], [https://pdbe.org/1iur PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1iur RCSB], [https://www.ebi.ac.uk/pdbsum/1iur PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1iur ProSAT], [https://www.topsan.org/Proteins/RSGI/1iur TOPSAN]</span></td></tr>
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==About this Structure==
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</table>
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[[1iur]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1IUR OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/SACS_HUMAN SACS_HUMAN] Defects in SACS are the cause of spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:[https://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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==Reference==
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== Function ==
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<references group="xtra"/><references/>
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[https://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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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/iu/1iur_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1iur ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Kigawa, T.]]
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[[Category: Large Structures]]
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[[Category: Kobayashi, N.]]
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[[Category: Kigawa T]]
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[[Category: Koshiba, S.]]
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[[Category: Kobayashi N]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Koshiba S]]
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[[Category: Yokoyama, S.]]
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[[Category: Yokoyama S]]
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[[Category: Dnaj like domain]]
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[[Category: Riken structural genomics/proteomics initiative]]
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[[Category: Rsgi]]
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[[Category: Structural genomic]]
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[[Category: Unknown function]]
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Current revision

DnaJ domain of human KIAA0730 protein

PDB ID 1iur

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