Genomes and Genes
Gene Symbol: Nrap
Description: nebulin-related anchoring protein
Alias: nebulin-related-anchoring protein, N-RAP, nrap
- Luo G, Zhang J, Nguyen T, Herrera A, Paterson B, Horowits R. Complete cDNA sequence and tissue localization of N-RAP, a novel nebulin-related protein of striated muscle. Cell Motil Cytoskeleton. 1997;38:75-90 pubmed
- Mohiddin S, Lu S, Cardoso J, Carroll S, Jha S, Horowits R, et al. Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle. Cell Motil Cytoskeleton. 2003;55:200-12 pubmed..N-RAP is highly conserved and exclusively expressed in cardiac and skeletal muscle. Genetic abnormalities remain excellent candidate causes for cardiac and skeletal myopathies. ..
- Lin X, Miller J, Mankodi A, Kanadia R, Yuan Y, Moxley R, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet. 2006;15:2087-97 pubmed..Sequestration of MBNL1, and failure to maintain these splicing transitions, has a pivotal role in the pathogenesis of muscle disease in DM. ..
- Gladman J, Mandal M, Srinivasan V, Mahadevan M. Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1). PLoS ONE. 2013;8:e72907 pubmed publisher..Furthermore, these results also represent the first murine model for early-onset DM1 and provide a tool to investigate the effects of RNA toxicity at various stages of development. ..
- Luo G, Leroy E, Kozak C, Polymeropoulos M, Horowits R. Mapping of the gene (NRAP) encoding N-RAP in the mouse and human genomes. Genomics. 1997;45:229-32 pubmed..We mapped the NRAP gene to mouse chromosome 19 using interspecific crosses and to human chromosome 10 using radiation hybrid panels...
- Luo G, Herrera A, Horowits R. Molecular interactions of N-RAP, a nebulin-related protein of striated muscle myotendon junctions and intercalated disks. Biochemistry. 1999;38:6135-43 pubmed
- Lu S, Carroll S, Herrera A, Ozanne B, Horowits R. New N-RAP-binding partners alpha-actinin, filamin and Krp1 detected by yeast two-hybrid screening: implications for myofibril assembly. J Cell Sci. 2003;116:2169-78 pubmed..The results suggest that sequential recruitment of N-RAP binding partners may serve an important role during myofibril assembly. ..
- Carroll S, Lu S, Herrera A, Horowits R. N-RAP scaffolds I-Z-I assembly during myofibrillogenesis in cultured chick cardiomyocytes. J Cell Sci. 2004;117:105-14 pubmed..This work strongly supports the N-RAP scaffolding model of premyofibril assembly. ..
- Zhang J, Elzey B, Williams G, Lu S, Law D, Horowits R. Ultrastructural and biochemical localization of N-RAP at the interface between myofibrils and intercalated disks in the mouse heart. Biochemistry. 2001;40:14898-906 pubmed..These results demonstrate that N-RAP remains tightly bound to myofibrils and fasciae adherentes during biochemical purification and may be a key constituent in the mechanical link between these two structures. ..
- Lu S, Borst D, Horowits R. N-RAP expression during mouse heart development. Dev Dyn. 2005;233:201-12 pubmed..The results are consistent with N-RAP functioning as a catalytic scaffolding molecule, with low levels of the scaffold being sufficient to repetitively catalyze key steps in myofibril assembly. ..
- Lu S, Borst D, Horowits R. Expression and alternative splicing of N-RAP during mouse skeletal muscle development. Cell Motil Cytoskeleton. 2008;65:945-54 pubmed publisher..The results establish that N-RAP-s is the predominant spliced form of N-RAP present throughout skeletal muscle development. ..
- Lu S, Crawford G, Dore J, Anderson S, Despres D, Horowits R. Cardiac-specific NRAP overexpression causes right ventricular dysfunction in mice. Exp Cell Res. 2011;317:1226-37 pubmed publisherThe muscle-specific protein NRAP is concentrated at cardiac intercalated disks, plays a role in myofibril assembly, and is upregulated early in mouse models of dilated cardiomyopathy...
- Garg A, O Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, et al. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest. 2014;124:3529-39 pubmed publisher..Loss of sarcomere thin filament proteins is a frequent cause of NM; therefore, our data that KLHL40 stabilizes NEB and LMOD3 provide a potential basis for the development of NM in KLHL40-deficient patients. ..