1atn

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene></td></tr>

<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=ACE:ACETYL+GROUP'>ACE</scene>, <scene name='pdbligand=HIC:4-METHYL-HISTIDINE'>HIC</scene></td></tr>

== Disease ==

[[https://www.uniprot.org/uniprot/ACTS_HUMAN ACTS_HUMAN]] Defects in ACTA1 are the cause of nemaline myopathy type 3 (NEM3) [MIM:[https://omim.org/entry/161800 161800]]. A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. The phenotype at histological level is variable. Some patients present areas devoid of oxidative activity containg (cores) within myofibers. Core lesions are unstructured and poorly circumscribed.<ref>PMID:10508519</ref> <ref>PMID:11333380</ref> <ref>PMID:11166164</ref> <ref>PMID:15236405</ref> <ref>PMID:15198992</ref> <ref>PMID:15520409</ref> <ref>PMID:15336687</ref> <ref>PMID:16427282</ref> <ref>PMID:16945537</ref> <ref>PMID:17705262</ref> Defects in ACTA1 are a cause of myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:[https://omim.org/entry/161800 161800]]. A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent.<ref>PMID:10508519</ref> Defects in ACTA1 are a cause of congenital myopathy with fiber-type disproportion (CFTD) [MIM:[https://omim.org/entry/255310 255310]]; also known as congenital fiber-type disproportion myopathy (CFTDM). CFTD is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.<ref>PMID:15468086</ref> <ref>PMID:17387733</ref>

[[https://www.uniprot.org/uniprot/ACTS_HUMAN ACTS_HUMAN]] Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. [[https://www.uniprot.org/uniprot/DNAS1_BOVIN DNAS1_BOVIN]] Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity).

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== Publication Abstract from PubMed ==

The atomic models of the complex between rabbit skeletal muscle actin and bovine pancreatic deoxyribonuclease I both in the ATP and ADP forms have been determined by X-ray analysis at an effective resolution of 2.8 A and 3A, respectively. The two structures are very similar. The actin molecule consists of two domains which can be further subdivided into two subdomains. ADP or ATP is located in the cleft between the domains with a calcium ion bound to the beta- or beta- and gamma-phosphates, respectively. The motif of a five-stranded beta sheet consisting of a beta meander and a right handed beta alpha beta unit appears in each domain suggesting that gene duplication might have occurred. These sheets have the same topology as that found in hexokinase.

Atomic structure of the actin:DNase I complex.,Kabsch W, Mannherz HG, Suck D, Pai EF, Holmes KC Nature. 1990 Sep 6;347(6288):37-44. PMID:2395459<ref>PMID:2395459</ref>

From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>

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<div class="pdbe-citations 1atn" style="background-color:#fffaf0;"></div>

== References ==

<references/>

[[Category: Holmes, K C]]

[[Category: Kabsch, W]]

[[Category: Mannherz, H G]]

[[Category: Pai, E]]

[[Category: Suck, D]]

[[Category: Endodeoxyribonuclease]]