| Gene Information | |
|---|---|
| Gene Name | MTM1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 603 |
| Protein Names | Myotubularin (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000171100 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q13496 |
| Gene Card | MTM1 |
| Uniprot ID | Q13496 |
| Pfam | PF02893; PF06602 |
| In ASD | no |
| Allosteric Prediction | no (-0.581901122) |
| Ortholog in Animals | Alpaca_ MTM1 ( ortholog_one2one ) Dog_ MTM1 ( ortholog_one2one ) GuineaPig_ MTM1 ( ortholog_one2one ) Macaque_ MTM1 ( ortholog_one2one ) Mouse_ Mtm1 ( ortholog_one2one ) Pig_ MTM1 ( ortholog_one2one ) Rat_ Mtm1 ( ortholog_one2one ) Rabbit_ MTM1 ( ortholog_one2one ) |
| Ohnologs | MTMR2 |
| Paralogs | MTMR10, MTMR7, SBF1, SBF2, MTMR9, MTMR8, MTMR6, MTMR12, MTMR2, MTMR1, MTMR11, MTMR3, MTMR4 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs587783788 rs587783796 rs132630304 rs587783809 rs587783816 rs132630307 rs587783832 rs587783835 rs587783836 rs132630302 rs587783841 rs587783848 rs587783850 rs587783851 rs132630305 rs587783856 rs587783754 rs587783755 rs587783759 rs132630303 rs587783762 rs1569565525 rs781933660 rs587783764 rs587783772 rs886044782 rs886044783 rs587783789 rs587783801 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12847286}. Cell membrane; Peripheral membrane protein {ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12847286}. Cell projection, filopodium {ECO:0000269|PubMed:12118066}. Cell projection, ruffle {ECO:0000269|PubMed:12118066}. Late endosome {ECO:0000269|PubMed:14722070}. Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:Q9Z2C5}. Note=Localizes as a dense cytoplasmic network (PubMed:11001925). Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles (PubMed:12118066). Predominantly located in the cytoplasm following interaction with MTMR12 (PubMed:12847286). Recruited to the late endosome following EGF stimulation (PubMed:14722070). In skeletal muscles, co-localizes with MTMR12 in the sarcomere (By similarity). {ECO:0000250|UniProtKB:Q9Z2C5, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066, ECO:0000269|PubMed:12847286, ECO:0000269|PubMed:14722070}. |
| Mouse PG classification | NA |
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