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8oi8

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Current revision (08:27, 16 August 2023) (edit) (undo)
 
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'''Unreleased structure'''
 
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The entry 8oi8 is ON HOLD until Paper Publication
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==Cryo-EM structure of ADP-bound, filamentous beta-actin harboring the R183W mutation==
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<StructureSection load='8oi8' size='340' side='right'caption='[[8oi8]], [[Resolution|resolution]] 2.28&Aring;' scene=''>
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Authors: Oosterheert, W., Blanc, F.E.C., Roy, A., Belyy, A., Hofnagel, O., Hummer, G., Bieling, P., Raunser, S.
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== Structural highlights ==
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<table><tr><td colspan='2'>[[8oi8]] is a 5 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8OI8 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8OI8 FirstGlance]. <br>
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Description: Cryo-EM structure of ADP-bound, filamentous beta-actin harboring the R183W mutation
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 2.28&#8491;</td></tr>
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[[Category: Unreleased Structures]]
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=HIC:4-METHYL-HISTIDINE'>HIC</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
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[[Category: Hofnagel, O]]
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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=8oi8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8oi8 OCA], [https://pdbe.org/8oi8 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8oi8 RCSB], [https://www.ebi.ac.uk/pdbsum/8oi8 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8oi8 ProSAT]</span></td></tr>
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[[Category: Oosterheert, W]]
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</table>
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[[Category: Roy, A]]
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== Disease ==
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[[Category: Bieling, P]]
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[https://www.uniprot.org/uniprot/ACTB_HUMAN ACTB_HUMAN] Defects in ACTB are a cause of dystonia juvenile-onset (DYTJ) [MIM:[https://omim.org/entry/607371 607371]. DYTJ is a form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTJ patients manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss.<ref>PMID:16685646</ref> Defects in ACTB are the cause of Baraitser-Winter syndrome type 1 (BRWS1) [MIM:[https://omim.org/entry/243310 243310]. A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.<ref>PMID:22366783</ref>
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[[Category: Blanc, F.E.C]]
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== Function ==
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[[Category: Belyy, A]]
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[https://www.uniprot.org/uniprot/ACTB_HUMAN ACTB_HUMAN] Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
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[[Category: Hummer, G]]
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== References ==
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[[Category: Raunser, S]]
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<references/>
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__TOC__
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</StructureSection>
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[[Category: Homo sapiens]]
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[[Category: Large Structures]]
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[[Category: Belyy A]]
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[[Category: Bieling P]]
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[[Category: Blanc FEC]]
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[[Category: Hofnagel O]]
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[[Category: Hummer G]]
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[[Category: Oosterheert W]]
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[[Category: Raunser S]]
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[[Category: Roy A]]

Current revision

Cryo-EM structure of ADP-bound, filamentous beta-actin harboring the R183W mutation

PDB ID 8oi8

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