Myotubularin 1

For the 1996 racing video game, see Monster Truck Madness.

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) [1] Band Xq28 Start 150,568,417 bp [1] End 150,673,143 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X A7.2- A7.3|X 36.55 cM Start 70,254,373 bp [2] End 70,359,297 bp [2]
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 cell 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. 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. hdl: 2437/112730 . 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