Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.3.36
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
phosphoinositide 5-phosphatase
3.1.3.56
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
inositol-polyphosphate 5-phosphatase
3.1.3.86
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2KIE | A PH domain within OCRL bridges clathrin mediated membrane trafficking to phosphoinositide metabolis | |
| 2QV2 | 2.4 | A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway |
| 3QBT | 2.0 | Crystal structure of OCRL1 540-678 in complex with Rab8a:GppNHp |
| 3QIS | 2.3 | Recognition of the F&H motif by the Lowe Syndrome protein OCRL |
| 4CMN | 3.13 | Crystal structure of OCRL in complex with a phosphate ion |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0060271 | cilium assembly |
| Biological Process | GO:0001701 | in utero embryonic development |
| Biological Process | GO:0043647 | inositol phosphate metabolic process |
| Biological Process | GO:0006629 | lipid metabolic process |
| Biological Process | GO:0061024 | membrane organization |
| Biological Process | GO:0006661 | phosphatidylinositol biosynthetic process |
| Biological Process | GO:0046856 | phosphatidylinositol dephosphorylation |
| Biological Process | GO:0043087 | regulation of GTPase activity |
| Biological Process | GO:0007165 | signal transduction |
| Molecular Function | GO:0005096 | GTPase activator activity |
| Molecular Function | GO:0052745 | inositol phosphate phosphatase activity |
| Molecular Function | GO:0052659 | inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity |
| Molecular Function | GO:0052658 | inositol-1,4,5-trisphosphate 5-phosphatase activity |
| Molecular Function | GO:0004445 | inositol-polyphosphate 5-phosphatase activity |
| Molecular Function | GO:0034596 | phosphatidylinositol phosphate 4-phosphatase activity |
| Molecular Function | GO:0034485 | phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity |
| Molecular Function | GO:0043813 | phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity |
| Molecular Function | GO:0004439 | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
| Molecular Function | GO:0031267 | small GTPase binding |
| Cellular Component | GO:0005795 | Golgi stack |
| Cellular Component | GO:0005798 | Golgi-associated vesicle |
| Cellular Component | GO:0005905 | clathrin-coated pit |
| Cellular Component | GO:0030136 | clathrin-coated vesicle |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005769 | early endosome |
| Cellular Component | GO:0031901 | early endosome membrane |
| Cellular Component | GO:0005764 | lysosome |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0030670 | phagocytic vesicle membrane |
| Cellular Component | GO:0001750 | photoreceptor outer segment |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0005802 | trans-Golgi network |
| InterPro
|
InterPro name |
|---|---|
| IPR000198 | Rho GTPase-activating protein domain |
| IPR000300 | Inositol polyphosphate-related phosphatase |
| IPR005135 | Endonuclease/exonuclease/phosphatase |
| IPR008936 | Rho GTPase activation protein |
| IPR013783 | Immunoglobulin-like fold |
| IPR031995 | Inositol polyphosphate 5-phosphatase, clathrin binding domain |
| IPR036691 | Endonuclease/exonuclease/phosphatase superfamily |
| IPR037787 | OCRL1, PH domain |
| IPR037793 | OCRL1/INPP5B, INPP5c domain |
| IPR046985 | Inositol 5-phosphatase |
| IPR047078 | Inositol polyphosphate 5-phosphatase OCRL, RhoGAP |
| Pfam
|
Pfam name |
|---|---|
| PF00620 | RhoGAP domain |
| PF03372 | Endonuclease/Exonuclease/phosphatase family |
| PF16726 | Inositol polyphosphate 5-phosphatase clathrin binding 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-1660514 | Synthesis of PIPs at the Golgi membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1855183 | Synthesis of IP2, IP, and Ins in the cytosol | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1855204 | Synthesis of IP3 and IP4 in the cytosol | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-8856828 | Clathrin-mediated endocytosis | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-9013409 | RHOJ GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013423 | RAC3 GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell projection, cilium | ECO:0000269 | PubMed:22543976 |
| Cell projection, cilium, photoreceptor outer segment | ECO:0000269 | PubMed:22543976 |
| Cytoplasmic vesicle | ECO:0000250 | |
| Cytoplasmic vesicle, phagosome membrane | ECO:0000250 | |
| Early endosome membrane | ECO:0000269 | PubMed:21971085 |
| Early endosome membrane | ECO:0000269 | PubMed:25869668 |
| Endosome | ECO:0000269 | PubMed:21971085 |
| Endosome | ECO:0000269 | PubMed:25869668 |
| Golgi apparatus, trans-Golgi network | ECO:0000250 | |
| Lysosome | ECO:0000269 | PubMed:9430698 |
| Membrane, clathrin-coated pit | ECO:0000269 | PubMed:25869668 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000023 | Inguinal hernia |
| HP:0000027 | Azoospermia |
| HP:0000028 | Cryptorchidism |
| HP:0000083 | Renal insufficiency |
| HP:0000091 | Abnormal renal tubule morphology |
| HP:0000093 | Proteinuria |
| HP:0000114 | Proximal tubulopathy |
| HP:0000121 | Nephrocalcinosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0000189 | Narrow palate |
| HP:0000194 | Open mouth |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000230 | Gingivitis |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000276 | Long face |
| HP:0000293 | Full cheeks |
| HP:0000303 | Mandibular prognathia |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000389 | Chronic otitis media |
| HP:0000411 | Protruding ear |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000518 | Cataract |
| HP:0000519 | Developmental cataract |
| HP:0000557 | Buphthalmos |
| HP:0000559 | Corneal scarring |
| HP:0000568 | Microphthalmia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000615 | Abnormal pupil morphology |
| HP:0000632 | Lacrimation abnormality |
| HP:0000639 | Nystagmus |
| HP:0000646 | Amblyopia |
| HP:0000670 | Carious teeth |
| HP:0000678 | Dental crowding |
| HP:0000679 | Taurodontia |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000704 | Periodontitis |
| HP:0000716 | Depression |
| HP:0000718 | Aggressive behavior |
| HP:0000722 | Compulsive behaviors |
| HP:0000733 | Abnormal repetitive mannerisms |
| HP:0000739 | Anxiety |
| HP:0000772 | Abnormal rib morphology |
| HP:0000787 | Nephrolithiasis |
| HP:0000790 | Hematuria |
| HP:0000823 | Delayed puberty |
| HP:0000843 | Hyperparathyroidism |
| HP:0000859 | Hyperaldosteronism |
| HP:0000873 | Diabetes insipidus |
| HP:0000926 | Platyspondyly |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0000987 | Atypical scarring of skin |
| HP:0001225 | Wrist swelling |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001284 | Areflexia |
| HP:0001319 | Neonatal hypotonia |
| HP:0001369 | Arthritis |
| HP:0001382 | Joint hypermobility |
| HP:0001386 | Joint swelling |
| HP:0001387 | Joint stiffness |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001482 | Subcutaneous nodule |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001537 | Umbilical hernia |
| HP:0001608 | Abnormality of the voice |
| HP:0001873 | Thrombocytopenia |
| HP:0001903 | Anemia |
| HP:0001944 | Dehydration |
| HP:0001994 | Renal Fanconi syndrome |
| HP:0002002 | Deep philtrum |
| HP:0002007 | Frontal bossing |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002024 | Malabsorption |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0002093 | Respiratory insufficiency |
| HP:0002119 | Ventriculomegaly |
| HP:0002148 | Hypophosphatemia |
| HP:0002150 | Hypercalciuria |
| HP:0002151 | Increased serum lactate |
| HP:0002169 | Clonus |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002209 | Sparse scalp hair |
| HP:0002213 | Fine hair |
| HP:0002353 | EEG abnormality |
| HP:0002381 | Aphasia |
| HP:0002650 | Scoliosis |
| HP:0002748 | Rickets |
| HP:0002749 | Osteomalacia |
| HP:0002756 | Pathologic fracture |
| HP:0002757 | Recurrent fractures |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0002857 | Genu valgum |
| HP:0002900 | Hypokalemia |
| HP:0002902 | Hyponatremia |
| HP:0002999 | Patellar dislocation |
| HP:0003109 | Hyperphosphaturia |
| HP:0003124 | Hypercholesterolemia |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0003148 | Elevated serum acid phosphatase |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003355 | Aminoaciduria |
| HP:0003577 | Congenital onset |
| HP:0003646 | Bicarbonaturia |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004322 | Short stature |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein |
| HP:0005469 | Flat occiput |
| HP:0005562 | Multiple renal cysts |
| HP:0005692 | Joint hyperflexibility |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0005984 | Elevated maternal serum alpha-fetoprotein |
| HP:0006297 | Enamel hypoplasia |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007109 | Periventricular cysts |
| HP:0007513 | Generalized hypopigmentation |
| HP:0007663 | Reduced visual acuity |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007948 | Dense posterior cortical cataract |
| HP:0007957 | Corneal opacity |
| HP:0008069 | Neoplasm of the skin |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008897 | Postnatal growth retardation |
| HP:0009473 | Joint contracture of the hand |
| HP:0009804 | Tooth agenesis |
| HP:0010471 | Oligosacchariduria |
| HP:0010562 | Keloids |
| HP:0010807 | Open bite |
| HP:0011342 | Mild global developmental delay |
| HP:0011463 | Childhood onset |
| HP:0011527 | Lentiglobus |
| HP:0012622 | Chronic kidney disease |
| HP:0025131 | Finger swelling |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0100490 | Camptodactyly of finger |
| HP:0100493 | Hypoammonemia |
| HP:0100512 | Low levels of vitamin D |
| HP:0100530 | Abnormal calcium-phosphate regulating hormone level |
| HP:0100543 | Cognitive impairment |
| HP:0100589 | Urogenital fistula |
| HP:0100612 | Odontogenic neoplasm |
| HP:0100716 | Self-injurious behavior |
| HP:0100750 | Atelectasis |
| HP:0100820 | Glomerulopathy |
| HP:0100825 | Cheilitis |
| HP:0100835 | Benign neoplasm of the central nervous system |
| HP:0200042 | Skin ulcer |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | High | Approved |
| breast | adipocytes | Medium | Approved |
| breast | glandular cells | High | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | High | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebellum | cells in granular layer | High | Approved |
| cerebellum | cells in molecular layer | High | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | Medium | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cerebral cortex | neuropil | High | Approved |
| cervix | glandular cells | High | Approved |
| cervix | squamous epithelial cells | High | Approved |
| colon | endothelial cells | High | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | High | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | High | Approved |
| endometrium 2 | cells in endometrial stroma | Medium | Approved |
| endometrium 2 | glandular cells | High | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | High | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | High | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | High | Approved |
| kidney | cells in glomeruli | High | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | High | Approved |
| lymph node | germinal center cells | High | Approved |
| lymph node | non-germinal center cells | High | Approved |
| nasopharynx | respiratory epithelial cells | High | Approved |
| oral mucosa | squamous epithelial cells | High | Approved |
| ovary | follicle cells | High | Approved |
| ovary | ovarian stroma cells | High | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | High | Approved |
| parathyroid gland | glandular cells | High | Approved |
| placenta | decidual cells | High | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | High | Approved |
| seminal vesicle | glandular cells | High | Approved |
| skeletal muscle | myocytes | High | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | High | Approved |
| skin 1 | keratinocytes | High | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | High | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Medium | Approved |
| soft tissue 1 | fibroblasts | High | Approved |
| soft tissue 2 | fibroblasts | High | Approved |
| soft tissue 2 | peripheral nerve | Medium | Approved |
| spleen | cells in red pulp | High | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | High | Approved |
| testis | cells in seminiferous ducts | High | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | High | Approved |
| tonsil | non-germinal center 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
|
|---|---|---|---|---|---|
| dent disease type 2 | MONDO:0010359 | N25 | chapter14, Diseases of the genitourinary system | OMIM:300555 | Orphanet:93623 |
| oculocerebrorenal syndrome | MONDO:0010645 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:309000 | Orphanet:534 |