| Gene Symbol |
MTM1
|
| Entrez Gene |
4534
|
| Alt Symbol |
CNM, MTMX, XLMTM
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
myotubularin 1
|
| Other Description |
myotubularin|phosphatidylinositol-3,5-bisphosphate 3-phosphatase|phosphatidylinositol-3-phosphate phosphatase
|
| Swissprots |
F2Z330 A6NDB1 Q13496 Q8NEL1 B7Z491
|
| Accessions |
AAC12865 EAW99377 EAW99378 EAW99379 EAW99380 Q13496 AK291710 BAF84399 AK297021 BAH12477 AK297057 BAH12485 AK304036 BAH14097 AL832715 BC030779 AAH30779 BQ002481 DC418907 JF432327 ADZ15544 U46024 AAC51682 XM_005274687 XP_005274744 XM_011531170 XP_011529472 XM_011531171 XP_011529473 XM_011531172 XP_011529474 XM_011531173 XP_011529475 NM_000252 NP_000243
|
| 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. {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070, ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:9537414}.
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925}. Cell membrane; Peripheral membrane protein {ECO:0000269|PubMed:11001925}. Cell projection, filopodium {ECO:0000269|PubMed:12118066}. Cell projection, ruffle {ECO:0000269|PubMed:12118066}. Late endosome {ECO:0000269|PubMed:14722070}. Note=Localizes as a dense cytoplasmic network. Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation. {ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066}.
|
| Top Pathways |
Inositol phosphate metabolism, Phosphatidylinositol signaling system
|
![Western Blot: Myotubularin Overexpression Lysate (Adult Normal) [NBL1-13369] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Myotubularin.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/4836_Myotubularin%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-13369-img0002.jpg)