Group:MUZIC:Nebulin
From Proteopedia
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==Introduction== | ==Introduction== | ||
<StructureSection load='1ark' size='500' side='right' caption='NMR structure of the SH3 domain of Nebulin' scene='User:Marie-Cecile_Pelissier/Workbench/Nebulin/Overall/2'> | <StructureSection load='1ark' size='500' side='right' caption='NMR structure of the SH3 domain of Nebulin' scene='User:Marie-Cecile_Pelissier/Workbench/Nebulin/Overall/2'> | ||
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The Nebulin protein is involved in the structural integrity of the sarcomeres and is linked to many signalling pathways crucial for the maintenance of the sarcomere. | The Nebulin protein is involved in the structural integrity of the sarcomeres and is linked to many signalling pathways crucial for the maintenance of the sarcomere. | ||
The main fucntions of Nebulin are <ref>PMID 20940435</ref>: | The main fucntions of Nebulin are <ref>PMID 20940435</ref>: | ||
| - | 1. To define and regulate the length of the thin filaments of actin (molecular ruler); | + | #1. To define and regulate the length of the thin filaments of actin (molecular ruler); |
| - | 2. To maintain the alignment of adjacent myofibrills (linker of adjacent Z-disks); | + | #2. To maintain the alignment of adjacent myofibrills (linker of adjacent Z-disks); |
| - | 3. To regulate muscle contraction (regulator of cross-bridge cycles). | + | #3. To regulate muscle contraction (regulator of cross-bridge cycles). |
Mutations in the Nebulin encoding gene are the most common cause of Nemaline myopathy (NM), a non-dystrophic congenital muscle disorder characterised by muscle weakness. | Mutations in the Nebulin encoding gene are the most common cause of Nemaline myopathy (NM), a non-dystrophic congenital muscle disorder characterised by muscle weakness. | ||
Revision as of 12:57, 13 July 2011
Contents |
Introduction
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Domains and interactions
Glutamic rich region
Nebulin modules
Serine rich region
SH3 domain
The Nebulin SH3 domain adopts a ß-Barrel . The SH3 domain is the only domain of Nebulin for which a 3D structure is available.
References
- ↑ Wang K. Cytoskeletal matrix in striated muscle: the role of titin, nebulin and intermediate filaments. Adv Exp Med Biol. 1984;170:285-305. PMID:6547565
- ↑ Kazmierski ST, Antin PB, Witt CC, Huebner N, McElhinny AS, Labeit S, Gregorio CC. The complete mouse nebulin gene sequence and the identification of cardiac nebulin. J Mol Biol. 2003 May 9;328(4):835-46. PMID:12729758
- ↑ Moncman CL, Wang K. Nebulette: a 107 kD nebulin-like protein in cardiac muscle. Cell Motil Cytoskeleton. 1995;32(3):205-25. PMID:8581976 doi:http://dx.doi.org/10.1002/cm.970320305
- ↑ Ottenheijm CA, Granzier H. Lifting the nebula: novel insights into skeletal muscle contractility. Physiology (Bethesda). 2010 Oct;25(5):304-10. PMID:20940435 doi:10.1152/physiol.00016.2010
Proteopedia Page Contributors and Editors (what is this?)
Marie-Cecile Pelissier, Michal Harel, Jaime Prilusky, Nikos Pinotsis
