MTM1
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. In skeletal muscles, stabilizes MTMR12 protein levels. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: EC 3.1.3.64; EC 3.1.3.95; Motility/polarity/chemotaxis; Protein phosphatase, dual-specificity |
Chromosomal Location of human Ortholog: Xq28 |
Cellular Component:
cytoplasm; cytosol; filopodium; I band; late endosome; membrane; plasma membrane; ruffle
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Molecular Function:
intermediate filament binding; phosphatidylinositol binding; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; phosphoprotein phosphatase activity; protein binding
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Biological Process:
autophagosome assembly; endosome to lysosome transport; intermediate filament organization; mitochondrion distribution; mitochondrion morphogenesis; muscle cell cellular homeostasis; negative regulation of autophagosome assembly; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of protein kinase B signaling; negative regulation of TOR signaling; phosphatidylinositol biosynthetic process; phosphatidylinositol dephosphorylation; positive regulation of skeletal muscle tissue growth; proteasome-mediated ubiquitin-dependent protein catabolic process; protein dephosphorylation; protein kinase B signaling; protein transport; regulation of vacuole organization; skeletal muscle tissue growth; TOR signaling
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Disease: Myopathy, Centronuclear, X-linked
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Reference #:
Q13496
(UniProtKB)
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Alt. Names/Synonyms: CG2; CNM; MTM1; MTMX; Myotubularin; myotubularin 1; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; XLMTM
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Gene Symbols: MTM1
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Molecular weight:
69,932 Da
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Basal Isoelectric point:
8.38
Predict pI for various phosphorylation states
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