MTM1 blocking peptide

MTM1 Antibody (C-term) Blocking Peptide

• Gene Names: MTM1; CNM; MTMX; XLMTM
• Synonyms: MTM1; MTM1 Antibody (C-term) Blocking Peptide; Myotubularin; Phosphatidylinositol-3;5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; CG2; MTM1 blocking peptide

• Specificity: The synthetic peptide sequence used to generate the antibody was selected from the C-term region of human MTM1. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.
• Form/Format: The synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml deionized water for a final concentration of 1 mg/ml.
• Sequence Length: 603

• Cellular Location: Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. 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.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for MTM1 blocking peptide

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.

NCBI and Uniprot Product Information

• NCBI GI #: 2851537
• NCBI GeneID: 4534
• UniProt Accession #: Q13496; Q8NEL1; A6NDB1; B7Z491; F2Z330
• Molecular Weight: 66,053 Da
• NCBI Official Full Name: Myotubularin
• NCBI Official Synonym Full Names: myotubularin 1
• NCBI Official Symbol: MTM1
• NCBI Official Synonym Symbols: CNM; MTMX; XLMTM
• NCBI Protein Information: myotubularin
• UniProt Protein Name: Myotubularin
• Protein Family: Myotubularin
• UniProt Gene Name: MTM1
• UniProt Synonym Gene Names: CG2
• UniProt Entry Name: MTM1_HUMAN

NCBI Description

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]

Uniprot Description

MTM1: 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. Defects in MTM1 are the cause of centronuclear myopathy X-linked (CNMX). A congenital muscle disorder characterized by progressive muscular. weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Protein type: EC 3.1.3.95; Protein phosphatase, dual-specificity; Motility/polarity/chemotaxis; EC 3.1.3.64

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: cytoplasm; cytosol; filopodium; late endosome; plasma membrane; ruffle

Molecular Function: intermediate filament binding; phosphatidylinositol-3-phosphatase activity; phosphoinositide binding; phosphoprotein phosphatase activity; protein binding

Biological Process: endosome to lysosome transport; intermediate filament organization; mitochondrion distribution; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation; protein amino acid dephosphorylation

Disease: Myopathy, Centronuclear, X-linked