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 |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0031929 | TOR signaling |
| Biological Process | GO:0000045 | autophagosome assembly |
| Biological Process | GO:0008333 | endosome to lysosome transport |
| Biological Process | GO:0045109 | intermediate filament organization |
| Biological Process | GO:0048311 | mitochondrion distribution |
| Biological Process | GO:0070584 | mitochondrion morphogenesis |
| Biological Process | GO:0046716 | muscle cell cellular homeostasis |
| Biological Process | GO:0032007 | negative regulation of TOR signaling |
| Biological Process | GO:1902902 | negative regulation of autophagosome assembly |
| Biological Process | GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process |
| Biological Process | GO:0051898 | negative regulation of protein kinase B signaling |
| Biological Process | GO:0006661 | phosphatidylinositol biosynthetic process |
| Biological Process | GO:0046856 | phosphatidylinositol dephosphorylation |
| Biological Process | GO:0048633 | positive regulation of skeletal muscle tissue growth |
| Biological Process | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process |
| Biological Process | GO:0006470 | protein dephosphorylation |
| Biological Process | GO:0043491 | protein kinase B signaling |
| Biological Process | GO:0015031 | protein transport |
| Biological Process | GO:0044088 | regulation of vacuole organization |
| Biological Process | GO:0048630 | skeletal muscle tissue growth |
| Molecular Function | GO:0019215 | intermediate filament binding |
| Molecular Function | GO:0035091 | phosphatidylinositol binding |
| Molecular Function | GO:0052629 | phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
| Molecular Function | GO:0004438 | phosphatidylinositol-3-phosphate phosphatase activity |
| Molecular Function | GO:0004721 | phosphoprotein phosphatase activity |
| Cellular Component | GO:0031674 | I band |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0030175 | filopodium |
| Cellular Component | GO:0005770 | late endosome |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0001726 | ruffle |
| 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-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 membrane | ECO:0000269 | PubMed:11001925 |
| Cell membrane | ECO:0000269 | PubMed:12847286 |
| Cell projection, filopodium | ECO:0000269 | PubMed:12118066 |
| Cell projection, ruffle | ECO:0000269 | PubMed:12118066 |
| Cytoplasm | ECO:0000269 | PubMed:10900271 |
| Cytoplasm | ECO:0000269 | PubMed:11001925 |
| Cytoplasm | ECO:0000269 | PubMed:12847286 |
| Cytoplasm, myofibril, sarcomere | ECO:0000250 | |
| Late endosome | ECO:0000269 | PubMed:14722070 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000028 | Cryptorchidism |
| HP:0000048 | Bifid scrotum |
| HP:0000054 | Micropenis |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000275 | Narrow face |
| HP:0000276 | Long face |
| HP:0000278 | Retrognathia |
| HP:0000348 | High forehead |
| HP:0000467 | Neck muscle weakness |
| HP:0000478 | Abnormality of the eye |
| HP:0000544 | External ophthalmoplegia |
| HP:0000689 | Dental malocclusion |
| HP:0000807 | Glandular hypospadias |
| HP:0000808 | Penoscrotal hypospadias |
| HP:0000883 | Thin ribs |
| HP:0001166 | Arachnodactyly |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001319 | Neonatal hypotonia |
| HP:0001371 | Flexion contracture |
| HP:0001382 | Joint hypermobility |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0001622 | Premature birth |
| HP:0001999 | Abnormal facial shape |
| HP:0002021 | Pyloric stenosis |
| HP:0002033 | Poor suck |
| HP:0002090 | Pneumonia |
| HP:0002093 | Respiratory insufficiency |
| HP:0002098 | Respiratory distress |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002375 | Hypokinesia |
| HP:0002540 | Inability to walk |
| HP:0002643 | Neonatal respiratory distress |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0003244 | Penile hypospadias |
| HP:0003324 | Generalized muscle weakness |
| HP:0003517 | Birth length greater than 97th percentile |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0006829 | Severe muscular hypotonia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009110 | Diaphragmatic eventration |
| HP:0010628 | Facial palsy |
| HP:0011308 | Slender toe |
| HP:0011410 | Caesarian section |
| HP:0011968 | Feeding difficulties |
| HP:0030192 | Fatigable weakness of bulbar muscles |
| HP:0030195 | Fatigable weakness of swallowing muscles |
| HP:0030319 | Weakness of facial musculature |
| HP:0030917 | Low APGAR score |
| HP:0030918 | Low 1-minute APGAR score |
| HP:0030919 | Low 5-minute APGAR score |
| HP:0031238 | Necklace skeletal muscle fibers |
| HP:0033454 | Tube feeding |
| HP:0040314 | Blind vagina |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | glandular cells | Low | Approved |
| bronchus | ciliated cells (cell body) | Low | Approved |
| bronchus | ciliated cells (ciliary rootlets) | Medium | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cervix | glandular cells | Medium | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | glandular cells | Low | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| fallopian tube | ciliated cells (cell body) | Medium | Approved |
| fallopian tube | ciliated cells (ciliary rootlets) | High | Approved |
| gallbladder | glandular cells | High | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | cholangiocytes | Low | Approved |
| liver | hepatocytes | Low | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Low | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | ciliated cells (cell body) | Medium | Approved |
| nasopharynx | ciliated cells (cilia axoneme) | High | Approved |
| nasopharynx | ciliated cells (ciliary rootlets) | High | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | decidual cells | Low | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | High | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skin 1 | melanocytes | Low | Approved |
| small intestine | glandular cells | High | Approved |
| soft tissue 1 | fibroblasts | Low | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Low | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| x-linked centronuclear myopathy | MONDO:0010683 | G71 | chapter6, Diseases of the nervous system | OMIM:310400 | Orphanet:596 |