MTMR1 Gene Summary [Human]
This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MTMR1 |
| Official Name | myotubularin related protein 1 [Source:HGNC Symbol;Acc:HGNC:7449] |
| Ensembl ID | ENSG00000063601 |
| Bio databases IDs | |
| Aliases | myotubularin related protein 1 |
| Synonyms | Myotubularin Related Protein 1 |
| 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 MTMR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphatidylinositol-3-phosphatase
- phosphatase
- protein homodimerization
- Myotubularin-like phosphatase domain
- Pleckstrin homology-like domain
- PTP_DSP_cys
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoporosis
regulates
- phosphatidylinositol
- phosphatidylinositol-3-phosphate
role in cell
- survival
- mitochondrial respiration in
- dephosphorylation in
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
- Plasma Membrane
- cytosol
- paranodes
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTMR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylinositol biosynthetic process
- phosphatidylinositol dephosphorylation
- regulation of phosphatidylinositol dephosphorylation
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3-phosphatase activity
- protein homodimerization activity
- phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity