Myotubularin 1

MTM1

Identifiers

MTM1, CNM, MTMX, XLMTM, Myotubularin 1

External IDs

MGI: 1099452 HomoloGene: 37279 GeneCards: MTM1

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	No data available	Start	150,568,619 bp^[1]
Band	No data available	End	150,673,322 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	No data available	Start	71,210,767 bp^[2]
Band	No data available	End	71,315,691 bp^[2]

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 • extracellular exosome • cytosol
Biological process	• negative regulation of autophagosome assembly • intermediate filament organization • negative regulation of protein kinase B signaling • muscle cell cellular homeostasis • endosome to lysosome transport • lipid metabolic process • protein dephosphorylation • regulation of vacuole organization • negative regulation of TOR signaling • phosphatidylinositol dephosphorylation • 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 • transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


4534


17772

Ensembl


ENSG00000171100


ENSMUSG00000031337

UniProt


Q13496


Q9Z2C5

RefSeq (mRNA)


NM_000252


NM_001164190 NM_001164191 NM_001164192 NM_001164193 NM_019926

RefSeq (protein)


NP_000243


NP_001157662 NP_001157663 NP_001157664 NP_001157665 NP_064310

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

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:".
↑ "Mouse PubMed Reference:".
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. PMID 10790201. doi:10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R.
Wishart MJ, Dixon JE (2003). "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease.". Trends Cell Biol. 12 (12): 579–85. PMID 12495846. doi:10.1016/S0962-8924(02)02412-1.
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. PMID 12925573. doi:10.1093/hmg/ddg273.
Kovács SK, Korcsik J, Szabó H, et al. (2007). "[Myotubular myopathy. Case report and review of the literature]". Orvosi hetilap. 148 (37): 1757–62. PMID 17827085. doi:10.1556/OH.2007.28054.
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. PMID 1822801. doi:10.1016/0960-8966(91)90096-B.
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. PMID 8640223. doi:10.1038/ng0696-175.
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. PMID 9285787. doi:10.1093/hmg/6.9.1499.
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. PMID 9305655. doi:10.1093/hmg/6.9.1505.
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. PMID 9450905. doi:10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X.
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. PMID 9537414. doi:10.1038/ng0498-331.
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. PMID 9736772. doi:10.1093/hmg/7.11.1703.
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. PMID 9781038. doi:10.1038/sj.ejhg.5200189.
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. PMID 9828128. doi:10.1006/geno.1998.5560.
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. PMID 9829274. doi:10.1016/S0960-8966(98)00075-3.
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. PMID 10063835. doi:10.1016/S0960-8966(98)00090-X.
Häne BG, Rogers RC, Schwartz CE (1999). "Germline mosaicism in X-linked myotubular myopathy.". Clin. Genet. 56 (1): 77–81. PMID 10466421. doi:10.1034/j.1399-0004.1999.560111.x.
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. PMID 10502779. doi:10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O.
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. PMC 16795 . PMID 10900271. doi:10.1073/pnas.160255697.

External links

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

Esterase: protein tyrosine phosphatases (EC 3.1.3.48)

Class I

Classical PTPs

Receptor type PTPs	PTPRA PTPRB PTPRC PTPRD PTPRE PTPRF PTPRG PTPRH PTPRJ PTPRK PTPRM PTPRN PTPRN2 PTPRO PTPRQ PTPRR PTPRS PTPRT PTPRU PTPRZ1 PTPRZ2
Non receptor type PTPs	PTPN1 PTPN2 PTPN3 PTPN4 PTPN5 PTPN6 PTPN7 PTPN9 PTPN11 PTPN12 PTPN13 PTPN14 PTPN18 PTPN20 PTPN21 PTPN22 PTPN23

VH1-like or
dual specific
phosphatases
(DSPs)

MAPK phosphatases (MKPs)	DUSP1 DUSP2 DUSP4 DUSP5 DUSP6 DUSP7 DUSP8 DUSP9 DUSP10 DUSP16 MK-STYX
Slingshots	SSH1 SSH2 SSH3
PRLs	PTP4A1 PTP4A2 PTP4A3
CDC14s	CDC14A CDC14B CDKN3 PTP9Q22
Atypical DSPs	DUSP3 DUSP11 DUSP12 DUSP13A DUSP13B DUSP14 DUSP15 DUSP18 DUSP19 DUSP21 DUSP22 DUSP23 DUSP24 DUSP25 DUSP26 DUSP27 EMP2A RNGTT STYX
Phosphatase and tensin homologs (PTENs)	PTEN TPIP TPTE TNS TENC1
Myotubularins	MTM1 MTMR2 MTMR3 MTMR4 MTMR5 MTMR6 MTMR7 MTMR8 MTMR9 MTMR10 MTMR11 MTMR12 MTMR13 MTMR14 MTMR15

Class II

ACP1

Class III

Cdc25
- CDC25A
- CDC25B
- CDC25C

Class IV

EYA1
EYA2
EYA3
EYA4

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Myotubularin 1

References

Further reading

External links