Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.3.64
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
phosphatidylinositol-3-phosphatase
3.1.3.95
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1LW3 | 2.3 | Crystal Structure of Myotubularin-related protein 2 complexed with phosphate |
| 1M7R | 2.6 | Crystal Structure of Myotubularin-related Protein-2 (MTMR2) Complexed with Phosphate |
| 1ZSQ | 1.82 | Crystal Structure of MTMR2 in complex with phosphatidylinositol 3-phosphate |
| 1ZVR | 1.98 | Crystal Structure of MTMR2 in complex with phosphatidylinositol 3,5-bisphosphate |
| 5GNH | 2.6 | Myotubularin-related protein 2 |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0097062 | dendritic spine maintenance |
| Biological Process | GO:0032288 | myelin assembly |
| Biological Process | GO:0045806 | negative regulation of endocytosis |
| Biological Process | GO:0090394 | negative regulation of excitatory postsynaptic potential |
| Biological Process | GO:0031642 | negative regulation of myelination |
| Biological Process | GO:2000645 | negative regulation of receptor catabolic process |
| Biological Process | GO:0002091 | negative regulation of receptor internalization |
| Biological Process | GO:0048666 | neuron development |
| Biological Process | GO:0006661 | phosphatidylinositol biosynthetic process |
| Biological Process | GO:0046856 | phosphatidylinositol dephosphorylation |
| Biological Process | GO:2000643 | positive regulation of early endosome to late endosome transport |
| Biological Process | GO:0006470 | protein dephosphorylation |
| Biological Process | GO:0060304 | regulation of phosphatidylinositol dephosphorylation |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0052629 | phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
| Molecular Function | GO:0004438 | phosphatidylinositol-3-phosphate phosphatase activity |
| Molecular Function | GO:0008138 | protein tyrosine/serine/threonine phosphatase activity |
| Cellular Component | GO:0030424 | axon |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0030425 | dendrite |
| Cellular Component | GO:0043197 | dendritic spine |
| Cellular Component | GO:0031901 | early endosome membrane |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0048471 | perinuclear region of cytoplasm |
| Cellular Component | GO:0014069 | postsynaptic density |
| Cellular Component | GO:0097060 | synaptic membrane |
| Cellular Component | GO:0008021 | synaptic vesicle |
| Cellular Component | GO:0005774 | vacuolar membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR000387 | Tyrosine-specific protein phosphatases domain |
| IPR003595 | Protein-tyrosine phosphatase, catalytic |
| IPR004182 | GRAM domain |
| IPR010569 | Myotubularin-like, phosphatase domain |
| IPR011993 | PH-like domain superfamily |
| IPR016130 | Protein-tyrosine phosphatase, active site |
| IPR029021 | Protein-tyrosine phosphatase-like |
| IPR030564 | Myotubularin family |
| Pfam
|
Pfam name |
|---|---|
| PF02893 | GRAM domain |
| PF06602 | Myotubularin-like phosphatase domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1483248 | Synthesis of PIPs at the ER membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1660499 | Synthesis of PIPs at the plasma membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1660516 | Synthesis of PIPs at the early endosome membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1660517 | Synthesis of PIPs at the late endosome membrane | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell projection, axon | ECO:0000250 | |
| Cytoplasm | ECO:0000269 | PubMed:11733541 |
| Cytoplasm | ECO:0000269 | PubMed:12668758 |
| Cytoplasm | ECO:0000269 | PubMed:15998640 |
| Cytoplasm, perinuclear region | ECO:0000269 | PubMed:12668758 |
| Early endosome membrane | ECO:0000269 | PubMed:15998640 |
| Early endosome membrane | ECO:0000269 | PubMed:21372139 |
| Endosome membrane | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001270 | Motor delay |
| HP:0001762 | Talipes equinovarus |
| HP:0002460 | Distal muscle weakness |
| HP:0002650 | Scoliosis |
| HP:0002936 | Distal sensory impairment |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0004336 | Myelin outfoldings |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0007208 | Irregular myelin loops |
| HP:0010628 | Facial palsy |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| breast | glandular cells | High | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | High | Approved |
| liver | hepatocytes | Low | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | High | Approved |
| prostate | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Medium | Approved |
| skin 1 | keratinocytes | High | Approved |
| skin 2 | epidermal cells | High | Approved |
| testis | sertoli cells | High | Approved |
| tonsil | squamous epithelial cells | High | Approved |
| urinary bladder | urothelial cells | High | Approved |
| vagina | squamous epithelial cells | High | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| charcot-marie-tooth disease type 4b1 | MONDO:0011066 | G60 | chapter6, Diseases of the nervous system | OMIM:601382 | Orphanet:99955 |