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4d1e

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Revision as of 07:42, 14 September 2022

THE CRYSTAL STRUCTURE OF HUMAN MUSCLE ALPHA-ACTININ-2

Structural highlights

4d1e is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[ACTN2_HUMAN] Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.^[1]

Function

[ACTN2_HUMAN] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Publication Abstract from PubMed

The spectrin superfamily of proteins plays key roles in assembling the actin cytoskeleton in various cell types, crosslinks actin filaments, and acts as scaffolds for the assembly of large protein complexes involved in structural integrity and mechanosensation, as well as cell signaling. alpha-actinins in particular are the major actin crosslinkers in muscle Z-disks, focal adhesions, and actin stress fibers. We report a complete high-resolution structure of the 200 kDa alpha-actinin-2 dimer from striated muscle and explore its functional implications on the biochemical and cellular level. The structure provides insight into the phosphoinositide-based mechanism controlling its interaction with sarcomeric proteins such as titin, lays a foundation for studying the impact of pathogenic mutations at molecular resolution, and is likely to be broadly relevant for the regulation of spectrin-like proteins.

The Structure and Regulation of Human Muscle alpha-Actinin.,Ribeiro Ede A Jr, Pinotsis N, Ghisleni A, Salmazo A, Konarev PV, Kostan J, Sjoblom B, Schreiner C, Polyansky AA, Gkougkoulia EA, Holt MR, Aachmann FL, Zagrovic B, Bordignon E, Pirker KF, Svergun DI, Gautel M, Djinovic-Carugo K Cell. 2014 Dec 4;159(6):1447-60. doi: 10.1016/j.cell.2014.10.056. Epub 2014 Nov, 26. PMID:25433700^[2]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

References

↑ Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15. PMID:14567970
↑ Ribeiro Ede A Jr, Pinotsis N, Ghisleni A, Salmazo A, Konarev PV, Kostan J, Sjoblom B, Schreiner C, Polyansky AA, Gkougkoulia EA, Holt MR, Aachmann FL, Zagrovic B, Bordignon E, Pirker KF, Svergun DI, Gautel M, Djinovic-Carugo K. The Structure and Regulation of Human Muscle alpha-Actinin. Cell. 2014 Dec 4;159(6):1447-60. doi: 10.1016/j.cell.2014.10.056. Epub 2014 Nov, 26. PMID:25433700 doi:http://dx.doi.org/10.1016/j.cell.2014.10.056

1 Structural highlights
2 Disease
3 Function
4 Publication Abstract from PubMed
5 See Also
6 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/4d1e"

@@ Line 3: / Line 3: @@
 <StructureSection load='4d1e' size='340' side='right'caption='[[4d1e]], [[Resolution|resolution]] 3.50&Aring;' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[4d1e]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4D1E OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4D1E FirstGlance]. <br>
+<table><tr><td colspan='2'>[[4d1e]] is a 1 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=4D1E OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4D1E FirstGlance]. <br>
-</td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=MLZ:N-METHYL-LYSINE'>MLZ</scene></td></tr>
+</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=MLZ:N-METHYL-LYSINE'>MLZ</scene></td></tr>
-<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=4d1e FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4d1e OCA], [http://pdbe.org/4d1e PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4d1e RCSB], [http://www.ebi.ac.uk/pdbsum/4d1e PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4d1e ProSAT]</span></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=4d1e FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4d1e OCA], [https://pdbe.org/4d1e PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4d1e RCSB], [https://www.ebi.ac.uk/pdbsum/4d1e PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4d1e ProSAT]</span></td></tr>
 </table>
 == Disease ==
-[[http://www.uniprot.org/uniprot/ACTN2_HUMAN ACTN2_HUMAN]] Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:[http://omim.org/entry/612158 612158]]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:14567970</ref>
+[[https://www.uniprot.org/uniprot/ACTN2_HUMAN ACTN2_HUMAN]] Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:[https://omim.org/entry/612158 612158]]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:14567970</ref>
 == Function ==
-[[http://www.uniprot.org/uniprot/ACTN2_HUMAN ACTN2_HUMAN]] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
+[[https://www.uniprot.org/uniprot/ACTN2_HUMAN ACTN2_HUMAN]] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
 <div style="background-color:#fffaf0;">
 == Publication Abstract from PubMed ==
@@ Line 27: / Line 27: @@
 __TOC__
 </StructureSection>
-[[Category: Human]]
+[[Category: Homo sapiens]]
 [[Category: Large Structures]]
-[[Category: Djinovic-Carugo, K]]
+[[Category: Djinovic-Carugo K]]
-[[Category: Gkougkoulia, E]]
+[[Category: Gkougkoulia E]]
-[[Category: Pinotsis, N]]
+[[Category: Pinotsis N]]
-[[Category: Salmazo, A]]
+[[Category: Salmazo A]]
-[[Category: Sjoeblom, B]]
+[[Category: Sjoeblom B]]
-[[Category: Abd]]
-[[Category: Actin binding domain]]
-[[Category: Calmodulin-like domain]]
-[[Category: Contractile protein]]
-[[Category: Spectrin domain]]
-[[Category: Z-disc]]
 [[Category: Z-disk]]

4d1e

From Proteopedia

Revision as of 07:42, 14 September 2022

THE CRYSTAL STRUCTURE OF HUMAN MUSCLE ALPHA-ACTININ-2

Structural highlights

Disease

Function

Publication Abstract from PubMed

See Also

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

Views

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