Myosin binding protein C, cardiac

Myosin binding protein C, cardiac
PDB rendering based on 1gxe.
Available structures PDB 1GXE, 1PD6, 2AVG, 2K1M, 2V6H, 3CX2
Identifiers
Symbols	MYBPC3; CMH4; DKFZp779E1762; FHC; MYBP-C
External IDs	OMIM: 600958 MGI: 102844 HomoloGene: 215 GeneCards: MYBPC3 Gene
Gene Ontology Molecular function • ATPase activator activity • actin binding • structural constituent of muscle • myosin binding • titin binding • myosin heavy chain binding • metal ion binding Cellular component • cytosol • striated muscle myosin thick filament • striated muscle myosin thick filament • C zone • sarcomere • A band Biological process • heart morphogenesis • regulation of striated muscle contraction • cell adhesion • muscle filament sliding • positive regulation of ATPase activity • regulation of muscle filament sliding • ventricular cardiac muscle tissue morphogenesis • cardiac muscle contraction Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4607	17868
Ensembl	ENSG00000134571	ENSMUSG00000002100
UniProt	Q14896	Q3TF37
RefSeq (mRNA)	NM_000256	NM_008653.2
RefSeq (protein)	NP_000247	NP_032679.2
Location (UCSC)	Chr 11: 47.35 – 47.37 Mb	Chr 2: 90.96 – 90.98 Mb
PubMed search	[1]	[2]

Cardiac Myosin binding protein-C (cMyBP-C), also known as MYBPC3, is a protein which in humans is encoded by the MYBPC3 gene.^[1][2][3]

Function

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. It is found in regularly spaced intervals and is hypothesised to act as like a "barrel hoop" and hold the thick filament together. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction.^[1]

Clinical significance

Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy.^[4]

A deletion of 25 bp in the gene encoding the MYBPC3 protein is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations.^[5]

References

1. ^ ^{a b} "Entrez Gene: MYBPC3 myosin binding protein C, cardiac". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4607. 
2. ^ Gautel M, Zuffardi O, Freiburg A, Labeit S (May 1995). "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?". EMBO J. 14 (9): 1952–60. PMC 398294. PMID 7744002. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=398294. 
3. ^ Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D (July 1993). "Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11". Nat. Genet. 4 (3): 311–3. doi:10.1038/ng0793-311. PMID 8358441. 
4. ^ Cardim N, Perrot A, Santos S, Morgado P, Pádua M, Ferreira S, Reis RP, Monteiro C, Ferreira T, Correia JM, Osterziel KJ (December 2005). "Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene". Rev Port Cardiol 24 (12): 1463–76. PMID 16566405. 
5. ^ Dhandapany1 PS, et al. (January 2009). "A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia". Nature Genetics 41 (2): 187. doi:10.1038/ng.309. PMC 2697598. PMID 19151713. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2697598. 

Further reading

• Vikstrom KL, Leinwand LA (1996). "Contractile protein mutations and heart disease.". Curr. Opin. Cell Biol. 8 (1): 97–105. doi:10.1016/S0955-0674(96)80053-6. PMID 8791411. 
• Schaub MC, Hefti MA, Zuellig RA, Morano I (1998). "Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms.". Cardiovasc. Res. 37 (2): 381–404. doi:10.1016/S0008-6363(97)00258-7. PMID 9614495. 
• Bonne G, Carrier L, Richard P, et al. (1998). "Familial hypertrophic cardiomyopathy: from mutations to functional defects.". Circ. Res. 83 (6): 580–93. PMID 9742053. 
• Jääskeläinen P, Miettinen R, Kärkkäinen P, et al. (2004). "Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.". Ann. Med. 36 (1): 23–32. doi:10.1080/07853890310017161. PMID 15000344. 
• Starr R, Offer G (1978). "The interaction of C-protein with heavy meromyosin and subfragment-2.". Biochem. J. 171 (3): 813–6. PMC 1184031. PMID 352343. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1184031. 
• Moos C, Feng IN (1980). "Effect of C-protein on actomyosin ATPase.". Biochim. Biophys. Acta 632 (2): 141–9. doi:10.1016/0304-4165(80)90071-9. PMID 6448079. 
• Watkins H, Conner D, Thierfelder L, et al. (1996). "Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.". Nat. Genet. 11 (4): 434–7. doi:10.1038/ng1295-434. PMID 7493025. 
• Bonne G, Carrier L, Bercovici J, et al. (1996). "Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.". Nat. Genet. 11 (4): 438–40. doi:10.1038/ng1295-438. PMID 7493026. 
• Gautel M, Zuffardi O, Freiburg A, Labeit S (1995). "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?". EMBO J. 14 (9): 1952–60. PMC 398294. PMID 7744002. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=398294. 
• Carrier L, Hengstenberg C, Beckmann JS, et al. (1993). "Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.". Nat. Genet. 4 (3): 311–3. doi:10.1038/ng0793-311. PMID 8358441. 
• Freiburg A, Gautel M (1996). "A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy.". Eur. J. Biochem. 235 (1–2): 317–23. doi:10.1111/j.1432-1033.1996.00317.x. PMID 8631348. 
• Carrier L, Bonne G, Bährend E, et al. (1997). "Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy". Circ. Res. 80 (3): 427–34. PMID 9048664. 
• Rottbauer W, Gautel M, Zehelein J, et al. (1997). "Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein". J. Clin. Invest. 100 (2): 475–82. doi:10.1172/JCI119555. PMC 508212. PMID 9218526. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=508212. 
• Yu B, French JA, Carrier L, et al. (1998). "Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene". J. Med. Genet. 35 (3): 205–10. doi:10.1136/jmg.35.3.205. PMC 1051243. PMID 9541104. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1051243. 
• Moolman-Smook JC, Mayosi B, Brink P, Corfield VA (1998). "Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy". J. Med. Genet. 35 (3): 253–4. doi:10.1136/jmg.35.3.253. PMC 1051254. PMID 9541115. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1051254. 
• Niimura H, Bachinski LL, Sangwatanaroj S, et al. (1998). "Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy". N. Engl. J. Med. 338 (18): 1248–57. doi:10.1056/NEJM199804303381802. PMID 9562578. 
• Richard P, Isnard R, Carrier L, et al. (1999). "Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy". J. Med. Genet. 36 (7): 542–5. doi:10.1136/jmg.36.7.542. PMC 1734410. PMID 10424815. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734410. 

External links

• GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview