2mkp: Difference between revisions
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{{STRUCTURE_2mkp| PDB=2mkp | SCENE= }} | |||
===N domain of cardiac troponin C bound to the switch fragment of fast skeletal troponin I at pH 6=== | |||
{{ABSTRACT_PUBMED_24333682}} | |||
The entry | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TNNC1_HUMAN TNNC1_HUMAN]] Defects in TNNC1 are the cause of cardiomyopathy dilated type 1Z (CMD1Z) [MIM:[http://omim.org/entry/611879 611879]]. 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:15542288</ref> Defects in TNNC1 are the cause of familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:[http://omim.org/entry/613243 613243]]. A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.<ref>PMID:11385718</ref> <ref>PMID:16302972</ref> <ref>PMID:18572189</ref> <ref>PMID:19439414</ref> [[http://www.uniprot.org/uniprot/TNNI2_HUMAN TNNI2_HUMAN]] Sheldon-Hall syndrome;Digitotalar dysmorphism. The disease is caused by mutations affecting the gene represented in this entry. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TNNC1_HUMAN TNNC1_HUMAN]] Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments. [[http://www.uniprot.org/uniprot/TNNI2_HUMAN TNNI2_HUMAN]] Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. | |||
==About this Structure== | |||
[[2mkp]] is a 2 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2MKP OCA]. | |||
==Reference== | |||
<ref group="xtra">PMID:024333682</ref><references group="xtra"/><references/> | |||
[[Category: Holmes, P C.]] | |||
[[Category: Pineda-Sanabria, S E.]] | |||
[[Category: Robertson, I M.]] | |||
[[Category: Sykes, B D.]] | |||
[[Category: Calcium binding]] | |||
[[Category: Ef-hand]] | |||
[[Category: Ischemia]] | |||
[[Category: Metal binding protein]] | |||
[[Category: Troponin c]] | |||
[[Category: Troponin i]] | |||
Revision as of 20:58, 3 March 2014
N domain of cardiac troponin C bound to the switch fragment of fast skeletal troponin I at pH 6N domain of cardiac troponin C bound to the switch fragment of fast skeletal troponin I at pH 6
Template:ABSTRACT PUBMED 24333682
DiseaseDisease
[TNNC1_HUMAN] Defects in TNNC1 are the cause of cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]. 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] Defects in TNNC1 are the cause of familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243]. A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.[2] [3] [4] [5] [TNNI2_HUMAN] Sheldon-Hall syndrome;Digitotalar dysmorphism. The disease is caused by mutations affecting the gene represented in this entry.
FunctionFunction
[TNNC1_HUMAN] Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments. [TNNI2_HUMAN] Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
About this StructureAbout this Structure
2mkp is a 2 chain structure. Full experimental information is available from OCA.
ReferenceReference
- ↑ Robertson IM, Pineda-Sanabria SE, Holmes PC, Sykes BD. Conformation of the critical pH sensitive region of troponin depends upon a single residue in troponin I. Arch Biochem Biophys. 2013 Dec 12. pii: S0003-9861(13)00368-8. doi:, 10.1016/j.abb.2013.12.003. PMID:24333682 doi:http://dx.doi.org/10.1016/j.abb.2013.12.003
- ↑ Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004 Nov 16;44(10):2033-40. PMID:15542288 doi:S0735-1097(04)01700-0
- ↑ Hoffmann B, Schmidt-Traub H, Perrot A, Osterziel KJ, Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat. 2001 Jun;17(6):524. PMID:11385718 doi:10.1002/humu.1143
- ↑ Schmidtmann A, Lindow C, Villard S, Heuser A, Mugge A, Gessner R, Granier C, Jaquet K. Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. FEBS J. 2005 Dec;272(23):6087-97. PMID:16302972 doi:10.1111/j.1742-4658.2005.05001.x
- ↑ Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol. 2008 Aug;45(2):281-8. doi: 10.1016/j.yjmcc.2008.05.003. Epub , 2008 May 11. PMID:18572189 doi:10.1016/j.yjmcc.2008.05.003
- ↑ Pinto JR, Parvatiyar MS, Jones MA, Liang J, Ackerman MJ, Potter JD. A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. J Biol Chem. 2009 Jul 10;284(28):19090-100. doi: 10.1074/jbc.M109.007021. Epub, 2009 May 12. PMID:19439414 doi:10.1074/jbc.M109.007021