Mtm1 Gene Summary [Mouse]
Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in mitochondrion distribution; mitochondrion organization; and muscle cell cellular homeostasis. Acts upstream of or within negative regulation of catabolic process; negative regulation of intracellular signal transduction; and positive regulation of skeletal muscle tissue growth. Located in I band. Is expressed in embryo and trunk unsegmented mesenchyme. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in centronuclear myopathy X-linked and congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mtm1 |
| Official Name | X-linked myotubular myopathy gene 1 [Source:MGI Symbol;Acc:MGI:1099452] |
| Ensembl ID | ENSMUSG00000031337 |
| Bio databases IDs | |
| Aliases | X-linked myotubular myopathy gene 1 |
| Synonyms | CNM, CNMX, mKIAA4176, Mtm, MTMX, MYOTUBULARIN, myotubularin 1, X-linked myotubular myopathy gene 1, XLMTM |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mtm1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein tyrosine phosphatase, catalytic domain, undefined specificity
- intermediate filament binding
- phosphatidylinositol-3-phosphatase
- protein phosphatase
- phosphatase
- Myotubularin-like phosphatase domain
- protein binding
- Pleckstrin homology-like domain
- PTP_DSP_cys
- Protein tyrosine phosphatase, catalytic domain motif
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myopathy
- cachexia
- severe X-linked myotubular myopathy
- centronuclear myopathy
- paralysis
- hereditary disorder
- dyspnea
- growth failure
- congenital myopathy with fiber type disproportion
- motor dysfunction or movement disorder
role in cell
- apoptosis
- hydrolysis in
- phosphorylation in
- formation
- accumulation in
- binding
- induction
- induction in
- number
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ruffle
- cell periphery
- perinuclear region
- Plasma Membrane
- cytoplasmic matrix
- cytosol
- plasma membrane projections
- I band
- late endosomes
- filopodia
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mtm1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle cell homeostasis
- protein dephosphorylation
- protein transport
- endosome to lysosome transport
- TOR signaling cascade
- positive regulation of skeletal muscle tissue growth
- phosphatidylinositol biosynthetic process
- intermediate filament organization
- mitochondrion organization
- phosphatidylinositol dephosphorylation
- autophagic vacuole assembly
- proteasomal ubiquitin-dependent protein catabolic process
- protein kinase B signaling cascade
- skeletal muscle tissue growth
- mitochondrion distribution
- regulation of vacuole organization
- negative regulation of TOR signaling cascade
- negative regulation of protein kinase B signaling cascade
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- late endosome
- ruffle
- filopodium
- cytosol
- I band
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphoprotein phosphatase activity
- phosphatidylinositol-3-phosphatase activity
- protein binding
- phosphatidylinositol binding
- phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
- intermediate filament binding