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Gene Review

TPM1  -  tropomyosin 1 (alpha)

Homo sapiens

Synonyms: Alpha-tropomyosin, C15orf13, CMD1Y, CMH3, HTM-alpha, ...
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Disease relevance of TPM1


Psychiatry related information on TPM1


High impact information on TPM1


Biological context of TPM1


Anatomical context of TPM1


Associations of TPM1 with chemical compounds


Physical interactions of TPM1

  • This study was initiated with exons 9 and 11 of TNNT2 because of their crucial role in the binding ability of cardiac troponin T to alpha-tropomyosin, and continued with analyses in other regions of the gene [21].
  • The 65-kDa protein bound to the G+U-rich NRE 3' half which shows homology to the B2P2 sequence a known U2AF65 binding site in the alpha-tropomyosin gene, and the G+U-rich element can be replaced by B2P2 in the binding assay [22].

Regulatory relationships of TPM1


Other interactions of TPM1


Analytical, diagnostic and therapeutic context of TPM1


  1. De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. Durling, H.J., Reilich, P., Müller-Höcker, J., Mendel, B., Pongratz, D., Wallgren-Pettersson, C., Gunning, P., Lochmüller, H., Laing, N.G. Neuromuscul. Disord. (2002) [Pubmed]
  2. Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. Karibe, A., Tobacman, L.S., Strand, J., Butters, C., Back, N., Bachinski, L.L., Arai, A.E., Ortiz, A., Roberts, R., Homsher, E., Fananapazir, L. Circulation (2001) [Pubmed]
  3. Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy. Jongbloed, R.J., Marcelis, C.L., Doevendans, P.A., Schmeitz-Mulkens, J.M., Van Dockum, W.G., Geraedts, J.P., Smeets, H.J. J. Am. Coll. Cardiol. (2003) [Pubmed]
  4. A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood. Van Driest, S.L., Will, M.L., Atkins, D.L., Ackerman, M.J. Am. J. Cardiol. (2002) [Pubmed]
  5. Temporal minor slow and sharp activity in psychiatric patients. Koshino, Y., Murata, T., Oomori, M., Horie, T., Isaki, K., Tsubokawa, M., Hamada, T., Fukui, J. Clinical EEG (electroencephalography). (1990) [Pubmed]
  6. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Watkins, H., Conner, D., Thierfelder, L., Jarcho, J.A., MacRae, C., McKenna, W.J., Maron, B.J., Seidman, J.G., Seidman, C.E. Nat. Genet. (1995) [Pubmed]
  7. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D.R. Nat. Genet. (1995) [Pubmed]
  8. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. Watkins, H., McKenna, W.J., Thierfelder, L., Suk, H.J., Anan, R., O'Donoghue, A., Spirito, P., Matsumori, A., Moravec, C.S., Seidman, J.G. N. Engl. J. Med. (1995) [Pubmed]
  9. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Thierfelder, L., Watkins, H., MacRae, C., Lamas, R., McKenna, W., Vosberg, H.P., Seidman, J.G., Seidman, C.E. Cell (1994) [Pubmed]
  10. Silencing of the Tropomyosin-1 gene by DNA methylation alters tumor suppressor function of TGF-beta. Varga, A.E., Stourman, N.V., Zheng, Q., Safina, A.F., Quan, L., Li, X., Sossey-Alaoui, K., Bakin, A.V. Oncogene (2005) [Pubmed]
  11. Expression of a novel cardiac-specific tropomyosin isoform in humans. Denz, C.R., Narshi, A., Zajdel, R.W., Dube, D.K. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  12. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Gommans, I.M., Davis, M., Saar, K., Lammens, M., Mastaglia, F., Lamont, P., van Duijnhoven, G., ter Laak, H.J., Reis, A., Vogels, O.J., Laing, N., van Engelen, B.G., Kremer, H. Brain (2003) [Pubmed]
  13. Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization. Eyre, H., Akkari, P.A., Wilton, S.D., Callen, D.C., Baker, E., Laing, N.G. Cytogenet. Cell Genet. (1995) [Pubmed]
  14. Exon selection in alpha-tropomyosin mRNA is regulated by the antagonistic action of RBM4 and PTB. Lin, J.C., Tarn, W.Y. Mol. Cell. Biol. (2005) [Pubmed]
  15. Cloning and characterization of a cDNA encoding transformation-sensitive tropomyosin isoform 3 from tumorigenic human fibroblasts. Lin, C.S., Leavitt, J. Mol. Cell. Biol. (1988) [Pubmed]
  16. Closely related alpha-tropomyosin mRNAs in quail fibroblasts and skeletal muscle cells. Hallauer, P.L., Hastings, K.E., Baldwin, A.S., Pearson-White, S., Merrifield, P.A., Emerson, C.P. J. Biol. Chem. (1987) [Pubmed]
  17. Role of an inhibitory pyrimidine element and polypyrimidine tract binding protein in repression of a regulated alpha-tropomyosin exon. Gooding, C., Roberts, G.C., Smith, C.W. RNA (1998) [Pubmed]
  18. Relation of streptococcal M protein with human and rabbit tropomyosin: the complete amino acid sequence of human cardiac alpha tropomyosin, a highly conserved contractile protein. Mische, S.M., Manjula, B.N., Fischetti, V.A. Biochem. Biophys. Res. Commun. (1987) [Pubmed]
  19. Activation of {alpha}-Tropomyosin Exon 2 Is Regulated by the SR Protein 9G8 and Heterogeneous Nuclear Ribonucleoproteins H and F. Crawford, J.B., Patton, J.G. Mol. Cell. Biol. (2006) [Pubmed]
  20. Synthesis of a model protein of defined secondary and quaternary structure. Effect of chain length on the stabilization and formation of two-stranded alpha-helical coiled-coils. Lau, S.Y., Taneja, A.K., Hodges, R.S. J. Biol. Chem. (1984) [Pubmed]
  21. Hypertrophic cardiomyopathy--molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients. Capek, P., Skvor, J. Methods of information in medicine. (2006) [Pubmed]
  22. A cellular 65-kDa protein recognizes the negative regulatory element of human papillomavirus late mRNA. Dietrich-Goetz, W., Kennedy, I.M., Levins, B., Stanley, M.A., Clements, J.B. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  23. Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast. Tiso, N., Rampoldi, L., Pallavicini, A., Zimbello, R., Pandolfo, D., Valle, G., Lanfranchi, G., Danieli, G.A. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  24. Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes. Jääskeläinen, P., Miettinen, R., Kärkkäinen, P., Toivonen, L., Laakso, M., Kuusisto, J. Ann. Med. (2004) [Pubmed]
  25. Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Van Driest, S.L., Ackerman, M.J., Ommen, S.R., Shakur, R., Will, M.L., Nishimura, R.A., Tajik, A.J., Gersh, B.J. Circulation (2002) [Pubmed]
  26. DAP kinase mediates the phosphorylation of tropomyosin-1 downstream of the ERK pathway, which regulates the formation of stress fibers in response to oxidative stress. Houle, F., Poirier, A., Dumaresq, J., Huot, J. J. Cell. Sci. (2007) [Pubmed]
  27. Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. Nakajima-Taniguchi, C., Matsui, H., Nagata, S., Kishimoto, T., Yamauchi-Takihara, K. J. Mol. Cell. Cardiol. (1995) [Pubmed]
  28. alpha-Tropomyosin mutations Asp(175)Asn and Glu(180)Gly affect cardiac function in transgenic rats in different ways. Wernicke, D., Thiel, C., Duja-Isac, C.M., Essin, K.V., Spindler, M., Nunez, D.J., Plehm, R., Wessel, N., Hammes, A., Edwards, R.J., Lippoldt, A., Zacharias, U., Strömer, H., Neubauer, S., Davies, M.J., Morano, I., Thierfelder, L. Am. J. Physiol. Regul. Integr. Comp. Physiol. (2004) [Pubmed]
  29. First-pass MR imaging in the assessment of perfusion impairment in patients with hypertrophic cardiomyopathy and the Asp175Asn mutation of the alpha-tropomyosin gene. Sipola, P., Lauerma, K., Husso-Saastamoinen, M., Kuikka, J.T., Vanninen, E., Laitinen, T., Manninen, H., Niemi, P., Peuhkurinen, K., Jääskeläinen, P., Laakso, M., Kuusisto, J., Aronen, H.J. Radiology. (2003) [Pubmed]
  30. Enhancer elements activate the weak 3' splice site of alpha-tropomyosin exon 2. Dye, B.T., Buvoli, M., Mayer, S.A., Lin, C.H., Patton, J.G. RNA (1998) [Pubmed]
  31. Effects of two familial hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on the thermal unfolding of actin-bound tropomyosin. Kremneva, E., Boussouf, S., Nikolaeva, O., Maytum, R., Geeves, M.A., Levitsky, D.I. Biophys. J. (2004) [Pubmed]
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