Genomes and Genes
Gene Symbol: Obscn
Description: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Alias: BC046431, Gm878, UNC89, obscurin, obscn, obscurin-MLCK, obscurin-RhoGEF, obscurin-myosin light chain kinase
- Lange S, Perera S, Teh P, Chen J. Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover. Mol Biol Cell. 2012;23:2490-504 pubmed publisher..The presence of the sAnk1.5 binding partner obscurin, and mutation of lysine residues increased sAnk1.5 protein levels, as did knockdown of KCTD6 in cardiomyocytes...
- Ackermann M, Hu L, Bowman A, Bloch R, Kontrogianni Konstantopoulos A. Obscurin interacts with a novel isoform of MyBP-C slow at the periphery of the sarcomeric M-band and regulates thick filament assembly. Mol Biol Cell. 2009;20:2963-78 pubmed publisherb>Obscurin is a multidomain protein composed of adhesion and signaling domains that plays key roles in the organization of contractile and membrane structures in striated muscles...
- Borisov A, Raeker M, Russell M. Developmental expression and differential cellular localization of obscurin and obscurin-associated kinase in cardiac muscle cells. J Cell Biochem. 2008;103:1621-35 pubmedb>Obscurin and obscurin-associated kinase are two products of the obscurin transcriptional unit that encodes a recently identified giant muscle-specific protein obscurin...
- Armani A, Galli S, Giacomello E, Bagnato P, Barone V, Rossi D, et al. Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum. Exp Cell Res. 2006;312:3546-58 pubmed..basis of the interactions between muscle-specific ankyrin1 isoforms localized on the sarcoplasmic reticulum and obscurin a protein associated with the contractile apparatus. A novel small muscle-specific ankyrin isoform, ank1...
- Bang M. Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins. J Cell Physiol. 2017;232:38-52 pubmed publisher..Pros and cons of mouse models will be discussed and a future outlook will be given. J. Cell. Physiol. 232: 38-52, 2017. © 2016 Wiley Periodicals, Inc. ..
- Randazzo D, Blaauw B, Paolini C, Pierantozzi E, Spinozzi S, Lange S, et al. Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice. Am J Physiol Cell Physiol. 2017;312:C16-C28 pubmed publisherWe recently reported that skeletal muscle fibers of obscurin knockout (KO) mice present altered distribution of ankyrin B (ankB), disorganization of the subsarcolemmal microtubules, and reduced localization of dystrophin at costameres...
- Hu L, Ackermann M, Hecker P, Prosser B, King B, O Connell K, et al. Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin. Sci Adv. 2017;3:e1603081 pubmed publisherObscurins are cytoskeletal proteins with structural and regulatory roles encoded by OBSCN. Mutations in OBSCN are associated with the development of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM)...
- Ackermann M, Shriver M, Perry N, Hu L, Kontrogianni Konstantopoulos A. Obscurins: Goliaths and Davids take over non-muscle tissues. PLoS ONE. 2014;9:e88162 pubmed publisher..To date, two giant obscurin isoforms have been described in detail that differ only at the extreme COOH-terminus; while obscurin-A (?720 kDa) ..