Summary

Name MTM1
Full Name Myotubularin
Synonyms Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, 3.1.3.95, Phosphatidylinositol-3-phosphate phosphatase, 3.1.3.64 | CG2
Primary ID Q13496
Links - -
Type protein
Relations 1
Function Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:11001925, PubMed:10900271, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870).

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Relations

Regulator Mechanism target score
+ up-regulates quantity by expression img/indirect-activation.png transcriptional regulation MTM1 0.2
Publications: 1