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
3.1.3.86
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2XSW | 1.9 | Crystal structure of human INPP5E |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0014067 | negative regulation of phosphatidylinositol 3-kinase signaling |
| Biological Process | GO:1903565 | negative regulation of protein localization to cilium |
| Biological Process | GO:0017148 | negative regulation of translation |
| Biological Process | GO:0006661 | phosphatidylinositol biosynthetic process |
| Biological Process | GO:0046856 | phosphatidylinositol dephosphorylation |
| Molecular Function | GO:0004445 | inositol-polyphosphate 5-phosphatase activity |
| Molecular Function | GO:0016314 | phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity |
| Molecular Function | GO:0034485 | phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity |
| Molecular Function | GO:0004439 | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0032580 | Golgi cisterna membrane |
| Cellular Component | GO:0000139 | Golgi membrane |
| Cellular Component | GO:0005930 | axoneme |
| Cellular Component | GO:0005929 | cilium |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0001726 | ruffle |
| InterPro
|
InterPro name |
|---|---|
| IPR000300 | Inositol polyphosphate-related phosphatase |
| IPR005135 | Endonuclease/exonuclease/phosphatase |
| IPR036691 | Endonuclease/exonuclease/phosphatase superfamily |
| IPR042478 | 72kDa inositol polyphosphate 5-phosphatase |
| Pfam
|
Pfam name |
|---|---|
| PF03372 | Endonuclease/Exonuclease/phosphatase family |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660514 | Synthesis of PIPs at the Golgi membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-5624958 | ARL13B-mediated ciliary trafficking of INPP5E | Leaf | R-HSA-1852241 | Organelle biogenesis and maintenance |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell membrane | ECO:0000250 | |
| Cell projection, ruffle | ECO:0000250 | |
| Cytoplasm | ECO:0000250 | |
| Cytoplasm, cytoskeleton, cilium axoneme | ECO:0000269 | PubMed:19668215 |
| Cytoplasm, cytoskeleton, cilium axoneme | ECO:0000269 | PubMed:19668216 |
| Cytoplasm, cytoskeleton, cilium axoneme | ECO:0000269 | PubMed:24166846 |
| Golgi apparatus, Golgi stack membrane | ECO:0000250 | |
| Nucleus | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000054 | Micropenis |
| HP:0000077 | Abnormality of the kidney |
| HP:0000083 | Renal insufficiency |
| HP:0000107 | Renal cyst |
| HP:0000112 | Nephropathy |
| HP:0000158 | Macroglossia |
| HP:0000175 | Cleft palate |
| HP:0000202 | Orofacial cleft |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000276 | Long face |
| HP:0000286 | Epicanthus |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000426 | Prominent nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000480 | Retinal coloboma |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000543 | Optic disc pallor |
| HP:0000556 | Retinal dystrophy |
| HP:0000567 | Chorioretinal coloboma |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0000572 | Visual loss |
| HP:0000588 | Optic disc coloboma |
| HP:0000612 | Iris coloboma |
| HP:0000613 | Photophobia |
| HP:0000617 | Abnormality of ocular smooth pursuit |
| HP:0000639 | Nystagmus |
| HP:0000657 | Oculomotor apraxia |
| HP:0000662 | Nyctalopia |
| HP:0000718 | Aggressive behavior |
| HP:0000742 | Self-mutilation |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
| HP:0001105 | Retinal atrophy |
| HP:0001161 | Hand polydactyly |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001357 | Plagiocephaly |
| HP:0001394 | Cirrhosis |
| HP:0001395 | Hepatic fibrosis |
| HP:0001409 | Portal hypertension |
| HP:0001651 | Dextrocardia |
| HP:0001696 | Situs inversus totalis |
| HP:0001744 | Splenomegaly |
| HP:0001829 | Foot polydactyly |
| HP:0001830 | Postaxial foot polydactyly |
| HP:0001956 | Truncal obesity |
| HP:0002084 | Encephalocele |
| HP:0002085 | Occipital encephalocele |
| HP:0002104 | Apnea |
| HP:0002126 | Polymicrogyria |
| HP:0002195 | Dysgenesis of the cerebellar vermis |
| HP:0002240 | Hepatomegaly |
| HP:0002251 | Aganglionic megacolon |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002335 | Agenesis of cerebellar vermis |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002419 | Molar tooth sign on MRI |
| HP:0002421 | Poor head control |
| HP:0002465 | Poor speech |
| HP:0002508 | Brainstem dysplasia |
| HP:0002553 | Highly arched eyebrow |
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0002650 | Scoliosis |
| HP:0002790 | Neonatal breathing dysregulation |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0002871 | Central apnea |
| HP:0002876 | Episodic tachypnea |
| HP:0002896 | Neoplasm of the liver |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0003593 | Infantile onset |
| HP:0004422 | Biparietal narrowing |
| HP:0005248 | Intrahepatic biliary atresia |
| HP:0007271 | Occipital myelomeningocele |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0007663 | Reduced visual acuity |
| HP:0007675 | Progressive night blindness |
| HP:0007772 | Impaired smooth pursuit |
| HP:0007973 | Retinal dysplasia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008915 | Childhood-onset truncal obesity |
| HP:0010808 | Protruding tongue |
| HP:0010828 | Hemifacial spasm |
| HP:0010864 | Intellectual disability, severe |
| HP:0011220 | Prominent forehead |
| HP:0011933 | Elongated superior cerebellar peduncle |
| HP:0011968 | Feeding difficulties |
| HP:0025336 | Delayed ability to sit |
| HP:0030084 | Clinodactyly |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0031936 | Delayed ability to walk |
| HP:0100626 | Chronic hepatic failure |
| HP:0100951 | Enlarged fossa interpeduncularis |
| HP:0200096 | Triangular-shaped open mouth |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | Low | Approved |
| appendix | glandular cells | Medium | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | adipocytes | Medium | Approved |
| breast | glandular cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | High | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | Low | Approved |
| liver | cholangiocytes | Low | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| placenta | decidual cells | Low | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | High | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| spleen | cells in red pulp | Medium | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Low | Approved |
| tonsil | germinal center cells | Low | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| clubfoot | MONDO:0007342 | Q66 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:119800 | |
| joubert syndrome 1 | MONDO:0008944 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:213300 | |
| coach syndrome 1 | MONDO:0008996 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | ||
| morm syndrome | MONDO:0012423 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:610156 | Orphanet:75858 |
| joubert syndrome with ocular defect | MONDO:0016364 | H35 | chapter7, Diseases of the eye and adnexa | Orphanet:220493 | |
| joubert syndrome with ocular defect | MONDO:0016364 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:220493 | |
| leber congenital amaurosis | MONDO:0018998 | H35 | chapter7, Diseases of the eye and adnexa | OMIMPS:204000 | Orphanet:65 |