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Gene Review:

MYBPH - myosin binding protein H

Homo sapiens

Synonyms: H-protein, MyBP-H, Myosin-binding protein H

Hundley, A.F. et al., Parisi, M.J. et al., Vaughan, K.T. et al., Karpen, H.E. et al., Visco, A.G. et al., et al.

Visco, Yuan, Parisi, Lin, Hundley, Yuan, Visco,

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Disease relevance of MYBPH

Myosin-binding protein H was 24.7 times underexpressed in patients with prolapse (normalized signal intensity [NSI]: 0.46 [0.2-0.6]) compared with controls (NSI: 11.4 [0.2-31.3]) [1].

High impact information on MYBPH

The remainder of the molecule (1,032 amino acids) could interact with titin, MyBP-H (H protein) or thin filament components [2].
A dinucleotide repeat polymorphism in the MYBPH gene [3].
These data suggest that caveolin-1 may be integral for sequestering the Hh receptor complex in these caveolin-enriched microdomains, which act as a scaffold for the interactions with the Hh protein [4].
Partial amino acid sequences proved that the 15- and 14-kDa fragments are located at the C termini of cardiac MyBP-C and skeletal MyBP-H, respectively [5].
For example, domains C7-C10 of MyBP-C and domains H1-H4 of MyBP-H are required for the faithful targeting of these proteins to the A-bands of myofibrils in skeletal muscle [6].

Biological context of MYBPH

Specifically, advanced pelvic organ prolapse may be related to down-regulation of skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H [7].
OBJECTIVE: The purpose of this study was to compare gene expression of skeletal muscle heavy-chain polypeptide 3 (MYH3) and myosin binding protein H (MyBP-H) in the pubococcygeus muscle of patients with pelvic organ prolapse and controls [7].

Anatomical context of MYBPH

The myosin filaments of striated muscle contain a family of enigmatic myosin-binding proteins (MyBP), MyBP-C and MyBP-H [8].
Mutant and ectopic expression analyses in Drosophila suggest that the HH protein diffuses from the signaling cells to promote the proliferation of nearby ovarian somatic stem cells by antagonizing the suppression of its receptor PTC towards the CI transcription factor in the stem cells [9].

Associations of MYBPH with chemical compounds

Some of these proteins, including MyBP-H and MyBP-C, are characterized by a series of internal repeats (motifs) with homology to either the C2-set of the immunoglobulin superfamily or the fibronectin type III repeat [10].
Over 83% of the cases of HH result from a single mutation of a Cys to Tyr in the HH protein [11].

Other interactions of MYBPH

The relationship between myosin binding proteins (MyBPs) C and H is confirmed, and MyBP-H is proposed to have given rise to MyBP-C by the acquisition of some titin domains [12].

References

Differential gene expression in pubococcygeus muscle from patients with pelvic organ prolapse. Visco, A.G., Yuan, L. Am. J. Obstet. Gynecol. (2003) [Pubmed]
The major myosin-binding domain of skeletal muscle MyBP-C (C protein) resides in the COOH-terminal, immunoglobulin C2 motif. Okagaki, T., Weber, F.E., Fischman, D.A., Vaughan, K.T., Mikawa, T., Reinach, F.C. J. Cell Biol. (1993) [Pubmed]
A dinucleotide repeat polymorphism in the MYBPH gene. Watkins, H., MacRae, C.A., Fischman, D.A., Seidman, J.G., Seidman, C.E. Hum. Mol. Genet. (1994) [Pubmed]
The sonic hedgehog receptor patched associates with caveolin-1 in cholesterol-rich microdomains of the plasma membrane. Karpen, H.E., Bukowski, J.T., Hughes, T., Gratton, J.P., Sessa, W.C., Gailani, M.R. J. Biol. Chem. (2001) [Pubmed]
Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain. Alyonycheva, T.N., Mikawa, T., Reinach, F.C., Fischman, D.A. J. Biol. Chem. (1997) [Pubmed]
The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. Welikson, R.E., Fischman, D.A. J. Cell. Sci. (2002) [Pubmed]
Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. Hundley, A.F., Yuan, L., Visco, A.G. Am. J. Obstet. Gynecol. (2006) [Pubmed]
Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. Gruen, M., Gautel, M. J. Mol. Biol. (1999) [Pubmed]
The role of the hedgehog/patched signaling pathway in epithelial stem cell proliferation: from fly to human. Parisi, M.J., Lin, H. Cell Res. (1998) [Pubmed]
Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. Vaughan, K.T., Weber, F.E., Ried, T., Ward, D.C., Reinach, F.C., Fischman, D.A. Genomics (1993) [Pubmed]
Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis. Enns, C.A. Biol. Res. (2006) [Pubmed]
Molecular evolution of immunoglobulin and fibronectin domains in titin and related muscle proteins. Kenny, P.A., Liston, E.M., Higgins, D.G. Gene (1999) [Pubmed]

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MYBPH	Bos taurus
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mybphb	Danio rerio
mybpha	Danio rerio
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MYBPH	Pan troglodytes
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