MTM1

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

• Antibodies
• Assays/Kits
• Proteins/Peptides
• siRNAs/Functional Genomics
• cDNA Clones
• Cell/Tissue/Blood Products

myotubularin CRISPR/Cas9 KO Plasmid (h) - sc-403912 from Santa Cruz Biotechnology Category CRISPR Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin HDR Plasmid (h) - sc-403912-HDR from Santa Cruz Biotechnology Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin Double Nickase Plasmid (h) - sc-403912-NIC from Santa Cruz Biotechnology Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin Double Nickase Plasmid (h2) - sc-403912-NIC-2 from Santa Cruz Biotechnology Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin CRISPR Activation Plasmid (h) - sc-403912-ACT from Santa Cruz Biotechnology Category CRISPR Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin CRISPR Activation Plasmid (h2) - sc-403912-ACT-2 from Santa Cruz Biotechnology Category CRISPR Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin Lentiviral Activation Particles (h) - sc-403912-LAC from Santa Cruz Biotechnology Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin Lentiviral Activation Particles (h2) - sc-403912-LAC-2 from Santa Cruz Biotechnology Prices $345.00 Sizes 20 µg Species Reactivities Human

myotubularin siRNA (h) - sc-44356 from Santa Cruz Biotechnology Category siRNA Prices $258.00 Sizes 10 µm Species Reactivities Human

myotublarin shRNA Plasmid (h) - sc-44356-SH from Santa Cruz Biotechnology Category siRNA Prices $258.00 Sizes 10 µm Species Reactivities Human

myotublarin shRNA (h) Lentiviral Particles - sc-44356-V from Santa Cruz Biotechnology Category siRNA Prices $258.00 Sizes 10 µm Species Reactivities Human

Myotubularin RNAi - H00004534-R01V from Novus Biologicals Category siRNA Prices $399.00 Sizes 20 nmol Species Reactivities Human

Myotubularin RNAi - H00004534-R01 from Novus Biologicals Category siRNA Prices $409.00 Sizes 20 nmol Species Reactivities Human

MISSION® esiRNA - EHU033361 from Sigma-Aldrich Category siRNA Prices $140.00, $250.00 Sizes 20 µg, 50 µg

MISSION® Human Phosphatase - SIHP0316 from Sigma-Aldrich Category siRNA Prices $25.00 Sizes 250 pmol

MISSION® Human Phosphatase - SIHP0318 from Sigma-Aldrich Category siRNA Prices $25.00 Sizes 250 pmol

MISSION® Human Phosphatase - SIHP0317 from Sigma-Aldrich Category siRNA Prices $25.00 Sizes 250 pmol

CompoZr® Knockout ZFN Kit - CKOZFN14713 from Sigma-Aldrich Category ZFN Kit Prices $4,999.00 Sizes 1 kt

CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND14713 from Sigma-Aldrich Category ZFN Kit Prices $3,999.00 Sizes 1 kt

MTM1 siRNA (Human) - CRH3004 from Cohesion Biosciences Category siRNA Prices $340.00, $510.00 Sizes 15 nmol, 30 nmol Species Reactivities Human

shRNA set against Human MTM1 (NM_000252.2) - SHH346416 from Creative biogene Category siRNA Species Reactivities Human

MTM1 shRNA Plasmid (Human) - CHH3004 from Cohesion Biosciences Category siRNA Prices $500.00, $750.00 Sizes 150 µg, 300 µg Species Reactivities Human

MTM1 miRNA 3'UTR clone - MiUTR3H-02765 from Creative biogene Species Reactivities Human

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