Nebulette
NEBL encodes the protein Nebulette, a cardiac-specific isoform belonging to the nebulin family of proteins. This family is comprised of 5 members: nebulette, nebulin, N-RAP, LASP-1 and LASP-2. Nebulette localizes to Z-discs of cardiac muscle and appears to regulate the length of actin thin filaments.
Structure
Nebulette is a 116.4 kDa protein comprised of 1014 amino acids (See human NEBL sequence features here). As a member of the nebulin family of proteins, nebulette is characterized by 35 amino acid stretches of ‘‘nebulin repeats’’, which are actin binding domains containing a conserved SDxxYK motif (PMID 2037050). While nebulin (600-900 kDa) is expressed preferentially in skeletal muscle, nebulette (107 kDa) is expressed in cardiac muscle.
Function
Nebulette was identified in 1995 by Moncman and Wang using primary cultures of chicken embryonic cardiomyocytes by immunoprecipitations with certain anti-nebulin monoclonal antibodies.[1] Normal expression of nebulette is essential for the assembly and contractile function of myofibrils.[2]
Clinical Significance
References
- ^ Moncman & Wang; Wang, K (1995). "Nebulette: a 107 kD nebulin-like protein in cardiac muscle". Cell Motil Cytoskeleton. 32 (3): 205–25. doi:10.1002/cm.970320305. PMID 8581976.
- ^ Moncman & Wang; Wang, K (2002). "Targeted disruption of nebulette protein expression alters cardiac myofibril assembly and function". Exp Cell Res. 273 (2): 204–18. doi:10.1006/excr.2001.5423. PMID 11822876.
External links
- nebulette at the U.S. National Library of Medicine Medical Subject Headings (MeSH)