MTM1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MTM1 |
| Official Name | myotubularin 1 [Source:HGNC Symbol;Acc:HGNC:7448] |
| Ensembl ID | ENSG00000171100 |
| Bio databases IDs | |
| Aliases | myotubularin 1 |
| Synonyms | CNM, CNMX, mKIAA4176, Mtm, MTMX, MYOTUBULARIN, myotubularin 1, X-linked myotubular myopathy gene 1, XLMTM |
| Species | Human, Homo sapiens |
| 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 human 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 human 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