Myotubularin 1

Myotubularin 1
Identifiers
Symbols	MTM1; CNM; MTMX; XLMTM
External IDs	OMIM: 300415 MGI: 1099452 HomoloGene: 37279 GeneCards: MTM1 Gene
EC number	3.1.3.48
Gene Ontology Molecular function • phosphatidylinositol-3-phosphatase activity • phosphoprotein phosphatase activity • protein tyrosine phosphatase activity • hydrolase activity • intermediate filament binding • phosphatidylinositol binding • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Cellular component • ruffle • cytoplasm • late endosome • plasma membrane • filopodium Biological process • protein dephosphorylation • endosome to lysosome transport • protein transport • regulation of vacuole organization • intermediate filament organization • muscle cell homeostasis • phosphatidylinositol dephosphorylation • mitochondrion distribution • mitochondrion morphogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4534	17772
Ensembl	ENSG00000171100	ENSMUSG00000031337
UniProt	Q13496	Q5BKQ5
RefSeq (mRNA)	NM_000252	NM_019926
RefSeq (protein)	NP_000243	NP_064310
Location (UCSC)	Chr X: 149.74 – 149.84 Mb	Chr X: 68.46 – 68.57 Mb
PubMed search	[1]	[2]

Myotubularin is a protein that in humans is encoded by the MTM1 gene.^[1]

This gene is a member of a gene family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.^[1]

References

1. ^ ^{a b} "Entrez Gene: MTM1 myotubularin 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4534. 

External links

• GeneReviews/NCBI/NIH/UW entry on X-Linked Myotubular Myopathy or Centronuclear 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. 
• 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. doi:10.1073/pnas.160255697. PMC 16795. PMID 10900271. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16795.