View source for 5tzm


==59th Ig domain of human obscurin (OBSCN Ig59)==
<StructureSection load='5tzm' size='340' side='right'caption='[[5tzm]], [[Resolution|resolution]] 1.18&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[5tzm]] 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=5TZM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5TZM FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.177&#8491;</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=5tzm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5tzm OCA], [https://pdbe.org/5tzm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5tzm RCSB], [https://www.ebi.ac.uk/pdbsum/5tzm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5tzm ProSAT]</span></td></tr>
</table>
== Function ==
[https://www.uniprot.org/uniprot/OBSCN_HUMAN OBSCN_HUMAN] Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils.<ref>PMID:11448995</ref> <ref>PMID:16205939</ref> 
<div style="background-color:#fffaf0;">
== Publication Abstract from PubMed ==
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation (c.5160delC) that was identified in patients and in asymptomatic carriers of three Bulgarian families with distal muscular dystrophy, indicating a low penetrance of the FLNC frameshift mutations. Given these similarities, we believe that the two FLNC mutations alone can be causative of distal myopathy without full penetrance. Moreover, comparative analysis of the clinical manifestations indicates that patients of the French family show an earlier onset and a complete segregation of the disease. As a possible explanation of this, the two French patients also carry a OBSCN c.13330C&gt;T (p.Arg4444Trp) mutation. The p.Arg4444Trp variant is localized within the OBSCN Ig59 domain that, together with Ig58, binds to the ZIg9/ZIg10 domains of titin at Z-disks. Structural and functional studies indicate that this OBSCN p.Arg4444Trp mutation decreases titin binding by ~15-fold. On this line, we suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.,Rossi D, Palmio J, Evila A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642., eCollection 2017. PMID:29073160<ref>PMID:29073160</ref>

From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
</div>
<div class="pdbe-citations 5tzm" style="background-color:#fffaf0;"></div>

==See Also==
*[[Obscurin|Obscurin]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Berndsen CE]]
[[Category: Policke RA]]
[[Category: Wright NT]]