MTMR1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| myotubularin related protein 1 | MIM:300171 | Ensembl:ENSG00000063601 | HGNC:HGNC:7449 | PA31252 | Xq28 |
GO terms in MTMR1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004438 | phosphatidylinositol-3-phosphatase activity |
| MF | ISS | GO:0004438 | phosphatidylinositol-3-phosphatase activity |
| MF | TAS | GO:0004438 | phosphatidylinositol-3-phosphatase activity |
| MF | IEA | GO:0004725 | protein tyrosine phosphatase activity |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0052629 | phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
| MF | TAS | GO:0052629 | phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | ISS | GO:0005886 | plasma membrane |
| BP | TAS | GO:0006661 | phosphatidylinositol biosynthetic process |
| BP | IEA | GO:0035335 | peptidyl-tyrosine dephosphorylation |
| BP | IDA | GO:0046856 | phosphatidylinositol dephosphorylation |
| BP | IDA | GO:0060304 | regulation of phosphatidylinositol dephosphorylation |
Gene expression in normal tissue: MTMR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MTMR1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1483255 | PI Metabolism |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-1660499 | Synthesis of PIPs at the plasma membrane |
| reactome | R-HSA-556833 | Metabolism of lipids |
| kegg | hsa00562 | Inositol phosphate metabolism - Homo sapiens (human) |
| kegg | hsa04070 | Phosphatidylinositol signaling system - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MTMR1
CLASSFICATION
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