Hmdb loader
Survey
You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP02745
Secondary Accession Numbers
  • 8250
Name Myotubularin
Synonyms Not Available
Gene Name MTM1
Protein Type Enzyme
Biological Properties
General Function Involved in phosphatase activity
Specific Function Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis.
Pathways
  • Inositol phosphate metabolism
  • Phosphatidylinositol signaling system
Reactions
1-phosphatidyl-1D-myo-inositol 3-phosphate + Water → 1-phosphatidyl-1D-myo-inositol + Phosphate details
D-myo-Inositol 1,3-bisphosphate + Water → myo-Inositol 6-phosphate + Phosphate details
1-Phosphatidyl-1D-myo-inositol 3-phosphate + Water → 1-Phosphatidyl-D-myo-inositol + Phosphate details
1-Phosphatidyl-1D-myo-inositol 3,4-bisphosphate + Water → 1-Phosphatidyl-1D-myo-inositol 4-phosphate + Phosphate details
GO Classification
Biological Process
small molecule metabolic process
mitochondrion morphogenesis
phosphatidylinositol biosynthetic process
protein transport
endosome to lysosome transport
intermediate filament organization
mitochondrion distribution
regulation of vacuole organization
phosphatidylinositol dephosphorylation
peptidyl-tyrosine dephosphorylation
Cellular Component
cytosol
filopodium
ruffle
plasma membrane
late endosome
Function
phosphoprotein phosphatase activity
protein tyrosine phosphatase activity
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
phosphoric ester hydrolase activity
phosphatase activity
Molecular Function
phosphoprotein phosphatase activity
intermediate filament binding
phosphatidylinositol binding
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
phosphatidylinositol-3-phosphatase activity
protein tyrosine phosphatase activity
Process
phosphorus metabolic process
phosphate metabolic process
dephosphorylation
metabolic process
cellular metabolic process
Cellular Location
  1. Cytoplasmic
Gene Properties
Chromosome Location X
Locus Xq28
SNPs MTM1
Gene Sequence
>1812 bp
ATGGCTTCTGCATCAACTTCTAAATATAATTCACACTCCTTGGAGAATGAGTCTATTAAG
AGGACGTCTCGAGATGGAGTCAATCGAGATCTCACTGAGGCTGTTCCTCGACTTCCAGGA
GAAACACTAATCACTGACAAAGAAGTTATTTACATATGTCCTTTCAATGGCCCCATTAAG
GGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGATTCTTCT
CTAATACTTGATGTTCCTCTGGGTGTGATCTCGAGAATTGAAAAAATGGGAGGCGCGACA
AGTAGAGGAGAAAATTCCTATGGTCTAGATATTACTTGTAAAGACATGAGAAACCTGAGG
TTCGCTTTGAAACAGGAAGGCCACAGCAGAAGAGATATGTTTGAGATCCTCACGAGATAC
GCGTTTCCCCTGGCTCACAGTCTGCCATTATTTGCATTTTTAAATGAAGAAAAGTTTAAC
GTGGATGGATGGACAGTTTACAATCCAGTGGAAGAATACAGGAGGCAGGGCTTGCCCAAT
CACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACTTACCCTGCT
CTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGG
TCCCGAAATCGAATTCCAGTGCTGTCATGGATTCATCCAGAAAATAAGACGGTCATTGTG
CGTTGCAGTCAGCCTCTTGTCGGTATGAGTGGGAAACGAAATAAAGATGATGAGAAATAT
CTCGATGTTATCAGGGAGACTAATAAACAAATTTCTAAACTCACCATTTATGATGCAAGA
CCCAGCGTAAATGCAGTGGCCAACAAGGCAACAGGAGGAGGATATGAAAGTGATGATGCA
TATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCT
TTAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGT
TTGGAGTCTACTCATTGGTTAGAACATATCAAGCTCGTTTTGACAGGAGCCATTCAAGTA
GCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGAC
AGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATT
GAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCT
CGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAG
TTTATTGATTGTGTGTGGCAAATGTCAAAACAGTTCCCTACAGCTTTTGAATTCAATGAA
CAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTC
AACTGTGAATCTGCTCGAGAAAGACAGAAGGTTACAGAAAGGACTGTTTCTTTATGGTCA
CTGATAAACAGTAATAAAGAAAAATTCAAAAACCCCTTCTATACTAAAGAAATCAATCGA
GTTTTATATCCAGTTGCCAGTATGCGTCACTTGGAACTCTGGGTGAATTACTACATTAGA
TGGAACCCCAGGATCAAGCAACAACAGCCGAATCCAGTGGAGCAGCGTTACATGGAGCTC
TTAGCCTTACGCGACGAATACATAAAGCGGCTTGAGGAACTGCAGCTCGCCAACTCTGCC
AAGCTTTCTGATCCCCCAACTTCACCTTCCAGTCCTTCGCAAATGATGCCCCATGTGCAA
ACTCACTTCTGA
Protein Properties
Number of Residues 603
Molecular Weight 69931.09
Theoretical pI 8.182
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Myotubularin
MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIK
GRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLR
FALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPN
HHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIV
RCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDA
YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQV
ADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS
RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLF
NCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIR
WNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQ
THF
GenBank ID Protein 4557896
UniProtKB/Swiss-Prot ID Q13496
UniProtKB/Swiss-Prot Entry Name MTM1_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_000252.2
GeneCard ID MTM1
GenAtlas ID MTM1
HGNC ID HGNC:7448
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
  3. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
  4. Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A: Phosphoproteome of resting human platelets. J Proteome Res. 2008 Feb;7(2):526-34. Epub 2007 Dec 19. [PubMed:18088087 ]
  5. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  6. Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP: A probability-based approach for high-throughput protein phosphorylation analysis and site localization. Nat Biotechnol. 2006 Oct;24(10):1285-92. Epub 2006 Sep 10. [PubMed:16964243 ]
  7. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996 Jun;13(2):175-82. [PubMed:8640223 ]
  8. Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, Liechti-Gallati S, Mandel JL: Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. Eur J Hum Genet. 1998 Jul-Aug;6(4):325-30. [PubMed:9781038 ]
  9. Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL: MTM1 mutations in X-linked myotubular myopathy. Hum Mutat. 2000;15(5):393-409. [PubMed:10790201 ]
  10. de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE: Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet. 1997 Sep;6(9):1499-504. [PubMed:9285787 ]
  11. Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E: Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet. 1997 Sep;6(9):1505-11. [PubMed:9305655 ]
  12. Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, Nonaka I: MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. Neuromuscul Disord. 1998 Oct;8(7):453-8. [PubMed:9829274 ]
  13. Hane BG, Rogers RC, Schwartz CE: Germline mosaicism in X-linked myotubular myopathy. Clin Genet. 1999 Jul;56(1):77-81. [PubMed:10466421 ]
  14. Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL: Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Hum Mutat. 1999;14(4):320-5. [PubMed:10502779 ]
  15. Tanner SM, Schneider V, Thomas NS, Clarke A, Lazarou L, Liechti-Gallati S: Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Neuromuscul Disord. 1999 Jan;9(1):41-9. [PubMed:10063835 ]
  16. Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S: Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb;19(2):114-21. [PubMed:11793470 ]
  17. Flex E, De Luca A, D'Apice MR, Buccino A, Dallapiccola B, Novelli G: Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). Neuromuscul Disord. 2002 Jun;12(5):501-5. [PubMed:12031625 ]
  18. Yu S, Manson J, White S, Bourne A, Waddy H, Davis M, Haan E: X-linked myotubular myopathy in a family with three adult survivors. Clin Genet. 2003 Aug;64(2):148-52. [PubMed:12859411 ]
  19. Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL: Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28. [PubMed:12522554 ]