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3lue

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{{Seed}}
 
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[[Image:3lue.jpg|left|200px]]
 
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<!--
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==Model of alpha-actinin CH1 bound to F-actin==
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The line below this paragraph, containing "STRUCTURE_3lue", creates the "Structure Box" on the page.
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<SX load='3lue' size='340' side='right' viewer='molstar' caption='[[3lue]], [[Resolution|resolution]] 15.00&Aring;' scene=''>
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You may change the PDB parameter (which sets the PDB file loaded into the applet)
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== Structural highlights ==
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or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
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<table><tr><td colspan='2'>[[3lue]] is a 20 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=3LUE OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3LUE FirstGlance]. <br>
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or leave the SCENE parameter empty for the default display.
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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]] 15&#8491;</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=3lue FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3lue OCA], [https://pdbe.org/3lue PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3lue RCSB], [https://www.ebi.ac.uk/pdbsum/3lue PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3lue ProSAT]</span></td></tr>
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{{STRUCTURE_3lue| PDB=3lue | SCENE= }}
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</table>
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== Disease ==
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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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== Function ==
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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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== 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/lu/3lue_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=3lue ConSurf].
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<div style="clear:both"></div>
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===Model of alpha-actinin CH1 bound to F-actin===
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==See Also==
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*[[Actin 3D structures|Actin 3D structures]]
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*[[Actinin 3D structures|Actinin 3D structures]]
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== References ==
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The line below this paragraph, {{ABSTRACT_PUBMED_20383143}}, adds the Publication Abstract to the page
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<references/>
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(as it appears on PubMed at http://www.pubmed.gov), where 20383143 is the PubMed ID number.
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__TOC__
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-->
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</SX>
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{{ABSTRACT_PUBMED_20383143}}
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==Disease==
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Known disease associated with this structure: Dystonia, juvenile-onset OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102630 102630]], Alpha-actinin-3 deficiency OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102574 102574]], Sprinting performance OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102574 102574]]
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==About this Structure==
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3LUE is a 20 chains structure with sequences from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3LUE OCA].
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==Reference==
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<ref group="xtra">PMID:20383143</ref><references group="xtra"/>
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Djinovic-Carugo, K.]]
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[[Category: Large Structures]]
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[[Category: Egelman, E H.]]
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[[Category: Djinovic-Carugo K]]
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[[Category: Galkin, V E.]]
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[[Category: Egelman EH]]
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[[Category: Orlova, A.]]
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[[Category: Galkin VE]]
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[[Category: Salmazo, A.]]
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[[Category: Orlova A]]
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[[Category: Acetylation]]
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[[Category: Salmazo A]]
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[[Category: Actin-binding]]
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[[Category: Atp-binding]]
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[[Category: Calcium]]
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[[Category: Calponin homology domain]]
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[[Category: Cytoplasm]]
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[[Category: Cytoskeleton]]
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[[Category: Deafness]]
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[[Category: Disease mutation]]
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[[Category: Dystonia]]
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[[Category: Methylation]]
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[[Category: Nucleotide-binding]]
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[[Category: Phosphoprotein]]
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[[Category: Polymorphism]]
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[[Category: Structural protein]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Apr 28 10:59:42 2010''
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Current revision

Model of alpha-actinin CH1 bound to F-actin

3lue, resolution 15.00Å

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