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6anu
From Proteopedia
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| - | '''Unreleased structure''' | ||
| - | + | ==Cryo-EM structure of F-actin complexed with the beta-III-spectrin actin-binding domain== | |
| + | <SX load='6anu' size='340' side='right' viewer='molstar' caption='[[6anu]], [[Resolution|resolution]] 7.00Å' scene=''> | ||
| + | == Structural highlights == | ||
| + | <table><tr><td colspan='2'>[[6anu]] is a 12 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=6ANU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6ANU FirstGlance]. <br> | ||
| + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 7Å</td></tr> | ||
| + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6anu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6anu OCA], [https://pdbe.org/6anu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6anu RCSB], [https://www.ebi.ac.uk/pdbsum/6anu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6anu ProSAT]</span></td></tr> | ||
| + | </table> | ||
| + | == Disease == | ||
| + | [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> | ||
| + | == Function == | ||
| + | [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. | ||
| - | + | ==See Also== | |
| - | + | *[[Actin 3D structures|Actin 3D structures]] | |
| - | + | *[[Spectrin 3D structures|Spectrin 3D structures]] | |
| - | [[Category: | + | == References == |
| - | [[Category: Avery | + | <references/> |
| - | [[Category: Egelman | + | __TOC__ |
| - | [[Category: | + | </SX> |
| - | [[Category: | + | [[Category: Homo sapiens]] |
| - | [[Category: | + | [[Category: Large Structures]] |
| + | [[Category: Avery AW]] | ||
| + | [[Category: Egelman EH]] | ||
| + | [[Category: Hays TS]] | ||
| + | [[Category: Orlova A]] | ||
| + | [[Category: Wang F]] | ||
Current revision
Cryo-EM structure of F-actin complexed with the beta-III-spectrin actin-binding domain
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Categories: Homo sapiens | Large Structures | Avery AW | Egelman EH | Hays TS | Orlova A | Wang F
