Showing Protein Myotubularin (BMDBP01237)
| Identification | |
|---|---|
| BMDB Protein ID | BMDBP01237 |
| Secondary Accession Numbers | None |
| Name | Myotubularin |
| Synonyms | Not Available |
| Gene Name | MTM1 |
| Protein Type | Enzyme |
| Biological Properties | |
| General Function | Involved in protein tyrosine 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. In skeletal muscles, stabilizes MTMR12 protein levels. |
| Pathways | Not Available |
| Reactions | Not Available |
| GO Classification | Not Available |
| Cellular Location | Not Available |
| Gene Properties | |
| Chromosome Location | X |
| Locus | Xq28 |
| SNPs | MTM1 |
| Gene Sequence | Not Available |
| Protein Properties | |
| Number of Residues | 603 |
| Molecular Weight | 70020.0 |
| Theoretical pI | 8.79 |
| Pfam Domain Function | Not Available |
| Signals |
|
| Transmembrane Regions | Not Available |
| Protein Sequence |
>Myotubularin MASAPTSKYNSHSLENESIKRTSRDGVNRDVGETLPRLPGEIRITDKEVIYICPFNGPIK GRVYITNYRLYLRSLETDSALILDVPLGVISRIEKMGGATSRGENSYGLDITCKDLRNLR FALKQEGHSRRDMFEILTRYAFPLAHSLPIFAFLNEEKFNVDGWTVYNPVEEYRRQGLPN HHWRITFINKCYKLCDTYPALLVVPYRASDEDLRRVATFRSRNRIPVLSWIHPENKTVIV RCSQPLVGMSGKRNKEDERYLDVIRETNRQVNKLTIYDARPNVNAVANKATGGGYESDDV YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQV ADRVSSGKSSVVVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS RIGHGDKNHADADRSPIFLQFIDCVWQMSKQFPTAFEFNERFLITILDHLYSCRFGTFLY NCESAREKQKVTERTVSLWSLINSNKDKFKNPFYTKEINRVLYPVASMRHLELWVNYYIR WNPRIKQQQPNPVEQRYMELLALRDEYIKRLDELQLANSAKLSDPSASPSSPSQMMPHVQ THF |
| External Links | |
| GenBank ID Protein | AAI48079.1 |
| UniProtKB/Swiss-Prot ID | A6QLT4 |
| UniProtKB/Swiss-Prot Entry Name | MTM1_BOVIN |
| PDB IDs | Not Available |
| GenBank Gene ID | BC148078 |
| GeneCard ID | MTM1 |
| GenAtlas ID | Not Available |
| HGNC ID | Not Available |
| References | |
| General References | Not Available |