Gene Symbol: MTMR1
Description: myotubularin related protein 1
Alias: myotubularin-related protein 1, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase
Species: human
Products:     MTMR1

Top Publications

  1. Hu Y, Hu L, Gong D, Lu H, Xuan Y, Wang R, et al. Genome-wide DNA methylation analysis in jejunum of Sus scrofa with intrauterine growth restriction. Mol Genet Genomics. 2018;293:807-818 pubmed publisher
    ..PCR (Hiseq-BSP) was used for validations of 19 genes with epigenetic abnormality, confirming three genes (AIFM1, MTMR1, and TWIST2) in extra samples...
  2. Santoro M, Modoni A, Masciullo M, Gidaro T, Broccolini A, Ricci E, et al. Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). Exp Mol Pathol. 2010;89:158-68 pubmed publisher
    Among genes abnormally expressed in myotonic dystrophy type1 (DM1), the myotubularin-related 1 gene (MTMR1) was related to impaired muscle differentiation...
  3. Bong S, Son K, Yang S, Park J, Cho J, Kim K, et al. Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. PLoS ONE. 2016;11:e0152611 pubmed publisher
    Myotubularin-related protein 1 (MTMR1) is a phosphatase that belongs to the tyrosine/dual-specificity phosphatase superfamily...
  4. Laporte J, Hu L, Kretz C, Mandel J, Kioschis P, Coy J, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996;13:175-82 pubmed
    ..At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man...
  5. Lorenzo O, Urbé S, Clague M. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. J Cell Sci. 2006;119:2953-9 pubmed
    ..Despite this, only MTMR4 exerts any effect on EGF receptor trafficking and degradation, which is more pronounced with a phosphatase inactive form of MTMR4 and requires an intact FYVE domain. ..
  6. Kioschis P, Wiemann S, Heiss N, Francis F, Gotz C, Poustka A, et al. Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). Genomics. 1998;54:256-66 pubmed
    ..We describe 225 kb of genomic sequence containing MTM1 and the related gene, MTMR1, which lies 20 kb distal to MTM1...
  7. Laporte J, Bedez F, Bolino A, Mandel J. Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet. 2003;12 Spec No 2:R285-92 pubmed
    ..Myotubularins are thus proposed to be implicated in these cellular mechanisms, and recent observations on myotubularins homologues in the nematode Caenorhabditis elegans indicate a role in endocytosis. ..
  8. Laporte J, Liaubet L, Blondeau F, Tronchère H, Mandel J, Payrastre B. Functional redundancy in the myotubularin family. Biochem Biophys Res Commun. 2002;291:305-12 pubmed
    ..This might be explained by subtle differences in expression and/or in recruitment and regulation at their specific site of action. ..
  9. Buj Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler Browne G, et al. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet. 2002;11:2297-307 pubmed
    The myotubularin-related 1 (MTMR1) gene belongs to a highly conserved family of eucaryotic phosphatases, with at least 11 members in humans...

More Information


  1. Laporte J, Blondeau F, Buj Bello A, Tentler D, Kretz C, Dahl N, et al. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998;7:1703-12 pubmed
    ..Comparison of the various genes allowed construction of a phylogenetic tree and reveals conserved residues which may be essential for function. These genes may be good candidates for other genetic diseases. ..
  2. Kim S, Taylor G, Torgersen K, Dixon J. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. J Biol Chem. 2002;277:4526-31 pubmed
    ..Furthermore, the MTM-related phosphatases MTMR1, MTMR3, and MTMR6 also dephosphorylate PI(3)P, suggesting that activity toward this substrate is common to all ..
  3. Laporte J, Blondeau F, Buj Bello A, Mandel J. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 2001;17:221-8 pubmed