The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

MTMR1  -  myotubularin related protein 1

Homo sapiens

Synonyms: Myotubularin-related protein 1, Phosphatidylinositol-3-phosphate phosphatase
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of MTMR1


High impact information on MTMR1


Biological context of MTMR1


Anatomical context of MTMR1

  • We found a striking reduction in the level of the muscle-specific isoform and the appearance of an abnormal MTMR1 transcript in differentiated cDM1 muscle cells in culture and in skeletal muscle from cDM1 patients [1].
  • To this end, we have analyzed myotubularin and MTMR2 transcripts during induced differentiation of cultured murine C2C12 myoblasts and find that their expression is divergently regulated [2].
  • Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve [10].
  • Localization of SBF2 within the candidate interval, cosegregation with the disease, expression in the peripheral nervous system, and resemblance of the histopathological phenotype to that related to mutations in its paralogue MTMR2 indicate that this gene is the CMT4B2 gene [11].
  • Moreover, by inhibiting KCa3.1, MTMR6 functions as a negative regulator of Ca2+ influx and proliferation of reactivated human CD4 T cells [12].

Associations of MTMR1 with chemical compounds


Other interactions of MTMR1


Analytical, diagnostic and therapeutic context of MTMR1

  • Subtle alterations in the mineral or collagen matrix were observed by Raman spectroscopy using established Raman markers such as the carbonate-to-phosphate ratio, mineral-to-matrix ratio (MTMR), and amide I ratio [19].


  1. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Buj-Bello, A., Furling, D., Tronchère, H., Laporte, J., Lerouge, T., Butler-Browne, G.S., Mandel, J.L. Hum. Mol. Genet. (2002) [Pubmed]
  2. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim, S.A., Taylor, G.S., Torgersen, K.M., Dixon, J.E. J. Biol. Chem. (2002) [Pubmed]
  3. The human myotubularin-related protein suppresses the growth of lung carcinoma cells. Yoo, Y.D., Cho, S.M., Kim, J.S., Chang, Y.S., Ahn, C.M., Kim, H.J. Oncol. Rep. (2004) [Pubmed]
  4. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Wishart, M.J., Dixon, J.E. Trends Cell Biol. (2002) [Pubmed]
  5. Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. Begley, M.J., Taylor, G.S., Kim, S.A., Veine, D.M., Dixon, J.E., Stuckey, J.A. Mol. Cell (2003) [Pubmed]
  6. Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. Begley, M.J., Taylor, G.S., Brock, M.A., Ghosh, P., Woods, V.L., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  7. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E. Am. J. Hum. Genet. (2003) [Pubmed]
  8. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Kim, S.A., Vacratsis, P.O., Firestein, R., Cleary, M.L., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  9. Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23. Appel, S., Reichwald, K., Zimmermann, W., Reis, A., Rosenthal, A., Hennies, H.C. Genomics (2001) [Pubmed]
  10. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Previtali, S.C., Zerega, B., Sherman, D.L., Brophy, P.J., Dina, G., King, R.H., Salih, M.M., Feltri, L., Quattrini, A., Ravazzolo, R., Wrabetz, L., Monaco, A.P., Bolino, A. Hum. Mol. Genet. (2003) [Pubmed]
  11. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Senderek, J., Bergmann, C., Weber, S., Ketelsen, U.P., Schorle, H., Rudnik-Schöneborn, S., Büttner, R., Buchheim, E., Zerres, K. Hum. Mol. Genet. (2003) [Pubmed]
  12. Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells. Srivastava, S., Ko, K., Choudhury, P., Li, Z., Johnson, A.K., Nadkarni, V., Unutmaz, D., Coetzee, W.A., Skolnik, E.Y. Mol. Cell. Biol. (2006) [Pubmed]
  13. The myotubularin family: from genetic disease to phosphoinositide metabolism. Laporte, J., Blondeau, F., Buj-Bello, A., Mandel, J.L. Trends Genet. (2001) [Pubmed]
  14. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Berger, P., Bonneick, S., Willi, S., Wymann, M., Suter, U. Hum. Mol. Genet. (2002) [Pubmed]
  15. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Tsai, T.C., Horinouchi, H., Noguchi, S., Minami, N., Murayama, K., Hayashi, Y.K., Nonaka, I., Nishino, I. Neuromuscul. Disord. (2005) [Pubmed]
  16. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. Bolino, A., Marigo, V., Ferrera, F., Loader, J., Romio, L., Leoni, A., Di Duca, M., Cinti, R., Cecchi, C., Feltri, M.L., Wrabetz, L., Ravazzolo, R., Monaco, A.P. Gene (2002) [Pubmed]
  17. Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Taylor, G.S., Maehama, T., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  18. Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment. Faustino, N.A., Cooper, T.A. Mol. Cell. Biol. (2005) [Pubmed]
  19. Identifying chemical changes in subchondral bone taken from murine knee joints using Raman spectroscopy. Dehring, K.A., Crane, N.J., Smukler, A.R., McHugh, J.B., Roessler, B.J., Morris, M.D. Applied spectroscopy. (2006) [Pubmed]
WikiGenes - Universities