Myotubularin 1

Myotubularin is a protein that in humans is encoded by the MTM1 gene.[5]

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MTM1
Identifiers
Aliases	MTM1, CNM, MTMX, XLMTM, Myotubularin 1
External IDs	OMIM: 300415 MGI: 1099452 HomoloGene: 37279 GeneCards: MTM1
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 150,568,619 bp[1] End 150,673,322 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 36.55 cM Start 71,210,767 bp[2] End 71,315,691 bp[2]
Gene ontology Molecular function • phosphoprotein phosphatase activity • intermediate filament binding • phosphatase activity • GO:0001948 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 • cell 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: 71.21 – 71.32 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000171100 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031337 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: MTM1 myotubularin 1".

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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.

External links

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