Application | Comment | Organism |
---|---|---|
medicine | mutations in the MTM1 gene are associated with theX-linked myotubular myopathy | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C375S | complete loss of activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q13496 | isoform MTM1 | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O | - |
Homo sapiens | 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate | isoform MTM1 can hydrolyze phosphatidylinositol 3,5-bisphosphate both in vitro and in mammalian cells | ? | |
additional information | isoform MTM1 additionally hydrolyzes 1-phosphatidyl-1D-myo-inositol 3-phosphate, reaction of EC 3.1.3.64 | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
MTM1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | in L6 myotubes overexpressing isoform MTM1, hyperosmotic shock induces an increase in the mass level of 1-phosphatidyl-1D-myo-inositol 5-phosphate that is reduced by 50% upon overexpression of the MTM1 inactive mutant D278A | Homo sapiens |