Myotubularin 1

MTM1
Identifiers
Aliases	MTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX
External IDs	OMIM: 300415 MGI: 1099452 HomoloGene: 37279 GeneCards: MTM1
Gene location (Human)
Chr.	X chromosome (human)
End	150,673,143 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	70,359,297 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; rectum; ; germinal epithelium; ; monocyte; ; jejunal mucosa; ; Achilles tendon; ; bone marrow cells; ; right adrenal gland; ; left adrenal gland; ; hair follicle;
	Top expressed in
	left colon; ; jejunum; ; ileum; ; soleus muscle; ; cerebellar vermis; ; brown adipose tissue; ; myocardium of ventricle; ; digastric muscle; ; thoracic diaphragm; ; intercostal muscle;
	More reference expression data
	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
	4534
	17772
	ENSG00000171100
	ENSMUSG00000031337
	Q13496
	Q9Z2C5
	NM_000252; NM_001376906; NM_001376907; NM_001376908
NM_001164190; NM_001164191; NM_001164192; NM_001164193; NM_019926;
	NM_001358113
	NP_000243; NP_001363835; NP_001363836; NP_001363837
NP_001157662; NP_001157663; NP_001157664; NP_001157665; NP_064310;
	NP_001345042
	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 2 3 GRCh38: Ensembl release 89: ENSG00000171100 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031337 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: MTM1 myotubularin 1".

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.

External links

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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000171100 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: MTM1 myotubularin 1".

[1]

[2]

[3]

[4]

[5]

References

Further reading

External links