Myotubularin 1

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MTM1
Identifiers
Aliases	MTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX
External IDs	OMIM: 300415; MGI: 1099452; HomoloGene: 37279; GeneCards: MTM1; OMA:MTM1 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq28 Start 150,568,417 bp End 150,673,143 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X A7.2- A7.3|X 36.55 cM Start 70,254,373 bp End 70,359,297 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte rectum germinal epithelium monocyte mucosa of colon mucosa of sigmoid colon jejunal mucosa epithelium of colon Achilles tendon bone marrow cells Top expressed in left colon jejunum Epithelium of choroid plexus lobe of cerebellum ileum soleus muscle cerebellar vermis brown adipose tissue granulocyte myocardium of ventricle More reference expression data BioGPS n/a
Gene ontology Molecular function phosphoprotein phosphatase activity intermediate filament binding phosphatase activity protein binding phosphatidylinositol binding protein tyrosine phosphatase activity hydrolase activity phosphatidylinositol-3-phosphatase activity phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Cellular component cytoplasm endosome late endosome cell projection membrane I band filopodium ruffle plasma membrane cytosol sarcomere Biological process negative regulation of autophagosome assembly negative regulation of protein kinase B signaling muscle cell cellular homeostasis lipid metabolism protein dephosphorylation negative regulation of TOR signaling mitochondrion distribution negative regulation of proteasomal ubiquitin-dependent protein catabolic process protein transport phosphatidylinositol biosynthetic process peptidyl-tyrosine dephosphorylation mitochondrion morphogenesis positive regulation of skeletal muscle tissue growth dephosphorylation endosome to lysosome transport regulation of vacuole organization intermediate filament organization phosphatidylinositol dephosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4534 17772 Ensembl ENSG00000171100 ENSMUSG00000031337 UniProt Q13496 Q9Z2C5 RefSeq (mRNA) NM_000252 NM_001376906 NM_001376907 NM_001376908 NM_001164190 NM_001164191 NM_001164192 NM_001164193 NM_019926 NM_001358113 RefSeq (protein) NP_000243 NP_001363835 NP_001363836 NP_001363837 NP_001157662 NP_001157663 NP_001157664 NP_001157665 NP_064310 NP_001345042 Location (UCSC) Chr X: 150.57 – 150.67 Mb Chr X: 70.25 – 70.36 Mb PubMed search
Wikidata
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Myotubularin is a protein that in humans is encoded by the MTM1 gene.

This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.

Further reading

• Laporte J, Biancalana V, Tanner SM, et al. (2000). "MTM1 mutations in X-linked myotubular myopathy". Hum. Mutat. 15 (5): 393–409. doi:10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. PMID 10790201. S2CID 27091541.
• Wishart MJ, Dixon JE (2003). "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease". Trends Cell Biol. 12 (12): 579–85. doi:10.1016/S0962-8924(02)02412-1. PMID 12495846.
• Laporte J, Bedez F, Bolino A, Mandel JL (2004). "Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases". Hum. Mol. Genet. 12. Spec No 2 (90002): R285–92. doi:10.1093/hmg/ddg273. PMID 12925573.
• Kovács SK, Korcsik J, Szabó H, et al. (2007). "[Myotubular myopathy. Case report and review of the literature]". Orvosi Hetilap. 148 (37): 1757–62. doi:10.1556/OH.2007.28054. PMID 17827085.
• Magnussen E (1975). "[In memoriam: Elisabeth Larsen]". Sygeplejersken. 75 (9): 16–7. PMID 1090027.
• Liechti-Gallati S, Müller B, Grimm T, et al. (1992). "X-linked centronuclear myopathy: mapping the gene to Xq28". Neuromuscul. Disord. 1 (4): 239–45. doi:10.1016/0960-8966(91)90096-B. PMID 1822801. S2CID 34044731.
• Laporte J, Hu LJ, Kretz C, et al. (1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat. Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223. S2CID 30028223.
• de Gouyon BM, Zhao W, Laporte J, et al. (1998). "Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy". Hum. Mol. Genet. 6 (9): 1499–504. doi:10.1093/hmg/6.9.1499. PMID 9285787.
• Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. (1998). "Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center". Hum. Mol. Genet. 6 (9): 1505–11. doi:10.1093/hmg/6.9.1505. PMID 9305655.
• Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S (1998). "Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene". Hum. Mutat. 11 (1): 62–8. doi:10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X. PMID 9450905. S2CID 39568857.
• Cui X, De Vivo I, Slany R, et al. (1998). "Association of SET domain and myotubularin-related proteins modulates growth control". Nat. Genet. 18 (4): 331–7. doi:10.1038/ng0498-331. PMID 9537414. S2CID 25209204.
• Laporte J, Blondeau F, Buj-Bello A, et al. (1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
• Laporte J, Guiraud-Chaumeil C, Tanner SM, et al. (1998). "Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy". Eur. J. Hum. Genet. 6 (4): 325–30. doi:10.1038/sj.ejhg.5200189. PMID 9781038.
• Kioschis P, Wiemann S, Heiss NS, et al. (1999). "Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)". Genomics. 54 (2): 256–66. doi:10.1006/geno.1998.5560. PMID 9828128.
• Nishino I, Minami N, Kobayashi O, et al. (1999). "MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy". Neuromuscul. Disord. 8 (7): 453–8. doi:10.1016/S0960-8966(98)00075-3. PMID 9829274. S2CID 7841418.
• Tanner SM, Schneider V, Thomas NS, et al. (1999). "Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients". Neuromuscul. Disord. 9 (1): 41–9. doi:10.1016/S0960-8966(98)00090-X. PMID 10063835. S2CID 10574620.
• Häne BG, Rogers RC, Schwartz CE (1999). "Germline mosaicism in X-linked myotubular myopathy". Clin. Genet. 56 (1): 77–81. doi:10.1034/j.1399-0004.1999.560111.x. PMID 10466421. S2CID 826588.
• Buj-Bello A, Biancalana V, Moutou C, et al. (1999). "Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy". Hum. Mutat. 14 (4): 320–5. doi:10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O. PMID 10502779. S2CID 6417585.
• Taylor GS, Maehama T, Dixon JE (2000). "Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate". Proc. Natl. Acad. Sci. U.S.A. 97 (16): 8910–5. Bibcode:2000PNAS...97.8910T. doi:10.1073/pnas.160255697. PMC 16795. PMID 10900271.
• Mansat M, Kpotor AO, Chicanne G, Picot M, Mazars A, Flores-Flores R, Payrastre B, Hnia K, Viaud J (2024). "MTM1-mediated production of phosphatidylinositol 5-phosphate fuels the formation of podosome-like protrusions regulating myoblast fusion". Proc. Natl. Acad. Sci. U.S.A. 97 (16): 8910–5. doi:10.1073/pnas.2217971121. PMC 11161799. PMID 38805272.

External links

• GeneReviews/NCBI/NIH/UW entry on X-Linked Myotubular Myopathy or Centronuclear Myopathy