Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.3.-
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
3.1.3.16
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
protein-serine/threonine phosphatase
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 |
|---|---|---|
| 7K1W | 5.1 | PIKfyve/Fig4/Vac14 complex centered on Fig4 - map3 |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0007626 | locomotory behavior |
| Biological Process | GO:0032288 | myelin assembly |
| Biological Process | GO:0031642 | negative regulation of myelination |
| Biological Process | GO:0048666 | neuron development |
| Biological Process | GO:0006661 | phosphatidylinositol biosynthetic process |
| Biological Process | GO:0046856 | phosphatidylinositol dephosphorylation |
| Biological Process | GO:0043473 | pigmentation |
| Biological Process | GO:0010976 | positive regulation of neuron projection development |
| Biological Process | GO:0007033 | vacuole organization |
| 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:0004438 | phosphatidylinositol-3-phosphate phosphatase activity |
| Molecular Function | GO:0004439 | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
| Molecular Function | GO:0043812 | phosphatidylinositol-4-phosphate phosphatase activity |
| Molecular Function | GO:0004722 | protein serine/threonine phosphatase activity |
| Cellular Component | GO:0000139 | Golgi membrane |
| Cellular Component | GO:0031901 | early endosome membrane |
| Cellular Component | GO:0005783 | endoplasmic reticulum |
| Cellular Component | GO:0010008 | endosome membrane |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0031902 | late endosome membrane |
| Cellular Component | GO:0005811 | lipid droplet |
| Cellular Component | GO:0055037 | recycling endosome |
| 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-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 |
|---|---|---|
| Endosome membrane | ECO:0000269 | PubMed:17556371 |
| HPO ID
|
HPO name |
|---|---|
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0040163 | Abnormal pelvis bone morphology |
| HP:0001257 | Spasticity |
| HP:0000347 | Micrognathia |
| HP:0009381 | Short finger |
| HP:0005461 | Craniofacial disproportion |
| HP:0001374 | Congenital hip dislocation |
| HP:0030816 | Gingival recession |
| HP:0001655 | Patent foramen ovale |
| HP:0004993 | Slender long bones with narrow diaphyses |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0200021 | Down-sloping shoulders |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000708 | Atypical behavior |
| HP:0003394 | Muscle spasm |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0001263 | Global developmental delay |
| HP:0003447 | Axonal loss |
| HP:0011951 | Aspiration pneumonia |
| HP:0002878 | Respiratory failure |
| HP:0002795 | Abnormal respiratory system physiology |
| HP:0003676 | Progressive |
| HP:0001631 | Atrial septal defect |
| HP:0025709 | Intermediate young adult onset |
| HP:0001636 | Tetralogy of Fallot |
| HP:0033258 | Sudden unexpected death in epilepsy |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001252 | Hypotonia |
| HP:0001920 | Renal artery stenosis |
| HP:0006466 | Ankle flexion contracture |
| HP:0001159 | Syndactyly |
| HP:0011968 | Feeding difficulties |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0002017 | Nausea and vomiting |
| HP:0001288 | Gait disturbance |
| HP:0000822 | Hypertension |
| HP:0000951 | Abnormality of the skin |
| HP:0010102 | Aplasia of the distal phalanx of the hallux |
| HP:0000972 | Palmoplantar hyperkeratosis |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001789 | Hydrops fetalis |
| HP:0007633 | Bilateral microphthalmos |
| HP:0002561 | Absent nipple |
| HP:0002094 | Dyspnea |
| HP:0008765 | Auditory hallucinations |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0005684 | Distal arthrogryposis |
| HP:0008386 | Aplasia/Hypoplasia of the nails |
| HP:0003828 | Variable expressivity |
| HP:0003593 | Infantile onset |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
| HP:0000894 | Short clavicles |
| HP:0002808 | Kyphosis |
| HP:0011061 | Abnormality of dental structure |
| HP:0030148 | Heart murmur |
| HP:0000174 | Abnormal palate morphology |
| HP:0002539 | Cortical dysplasia |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0000750 | Delayed speech and language development |
| HP:0002936 | Distal sensory impairment |
| HP:0000047 | Hypospadias |
| HP:0025425 | Laryngospasm |
| HP:0000268 | Dolichocephaly |
| HP:0012725 | Cutaneous syndactyly |
| HP:0009777 | Absent thumb |
| HP:0006323 | Premature loss of primary teeth |
| HP:0000568 | Microphthalmia |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0002705 | High, narrow palate |
| HP:0000286 | Epicanthus |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000716 | Depression |
| HP:0011297 | Abnormal digit morphology |
| HP:0002557 | Hypoplastic nipples |
| HP:0000217 | Xerostomia |
| HP:0001270 | Motor delay |
| HP:0000187 | Broad alveolar ridges |
| HP:0012294 | Abnormal occipital bone morphology |
| HP:0000505 | Visual impairment |
| HP:0007182 | Peripheral hypomyelination |
| HP:0002209 | Sparse scalp hair |
| HP:0006628 | Absent sternal ossification |
| HP:0001284 | Areflexia |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0001525 | Severe failure to thrive |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001302 | Pachygyria |
| HP:0008362 | Aplasia/Hypoplasia of the hallux |
| HP:0001840 | Metatarsus adductus |
| HP:0000316 | Hypertelorism |
| HP:0005819 | Short middle phalanx of finger |
| HP:0000395 | Prominent antihelix |
| HP:0010067 | Aplasia/hypoplasia of the 1st metatarsal |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0010537 | Wide cranial sutures |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000385 | Small earlobe |
| HP:0003581 | Adult onset |
| HP:0030192 | Fatigable weakness of bulbar muscles |
| HP:0010743 | Short metatarsal |
| HP:0010880 | Increased nuchal translucency |
| HP:0000331 | Short chin |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000256 | Macrocephaly |
| HP:0031258 | Delirium |
| HP:0000238 | Hydrocephalus |
| HP:0007333 | Hypoplasia of the frontal lobes |
| HP:0008897 | Postnatal growth retardation |
| HP:0000216 | Broad secondary alveolar ridge |
| HP:0001182 | Tapered finger |
| HP:0005989 | Redundant neck skin |
| HP:0001640 | Cardiomegaly |
| HP:0002180 | Neurodegeneration |
| HP:0000242 | Parietal bossing |
| HP:0030195 | Fatigable weakness of swallowing muscles |
| HP:0011451 | Primary microcephaly |
| HP:0000712 | Emotional lability |
| HP:0012378 | Fatigue |
| HP:0002483 | Bulbar signs |
| HP:0010035 | Aplasia of the 1st metacarpal |
| HP:0002021 | Pyloric stenosis |
| HP:0030196 | Fatigable weakness of respiratory muscles |
| HP:0001622 | Premature birth |
| HP:0000369 | Low-set ears |
| HP:0002367 | Visual hallucinations |
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand |
| HP:0000463 | Anteverted nares |
| HP:0001250 | Seizure |
| HP:0000378 | Cupped ear |
| HP:0002119 | Ventriculomegaly |
| HP:0012386 | Absent hallux |
| HP:0011344 | Severe global developmental delay |
| HP:0010862 | Delayed fine motor development |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0009565 | Aplasia of the distal phalanx of the 2nd finger |
| HP:0001770 | Toe syndactyly |
| HP:0000718 | Aggressive behavior |
| HP:0000713 | Agitation |
| HP:0001265 | Hyporeflexia |
| HP:0000322 | Short philtrum |
| HP:0003470 | Paralysis |
| HP:0006660 | Aplastic clavicle |
| HP:0003324 | Generalized muscle weakness |
| HP:0005469 | Flat occiput |
| HP:0007024 | Pseudobulbar paralysis |
| HP:0001838 | Rocker bottom foot |
| HP:0003383 | Onion bulb formation |
| HP:0002683 | Abnormal calvaria morphology |
| HP:0001167 | Abnormal finger morphology |
| HP:0002692 | Hypoplastic facial bones |
| HP:0001817 | Absent fingernail |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles |
| HP:0003015 | Flared metaphysis |
| HP:0002359 | Frequent falls |
| HP:0000365 | Hearing impairment |
| HP:0002133 | Status epilepticus |
| HP:0002696 | Abnormal parietal bone morphology |
| HP:0000411 | Protruding ear |
| HP:0005793 | Shortening of all distal phalanges of the toes |
| HP:0001510 | Growth delay |
| HP:0001249 | Intellectual disability |
| HP:0006713 | Aplasia/Hypoplasia of the scapulae |
| HP:0002194 | Delayed gross motor development |
| HP:0000518 | Cataract |
| HP:0010107 | Short proximal phalanx of hallux |
| HP:0004322 | Short stature |
| HP:0000954 | Single transverse palmar crease |
| HP:0008935 | Generalized neonatal hypotonia |
| HP:0003621 | Juvenile onset |
| HP:0000377 | Abnormal pinna morphology |
| HP:0008785 | Delayed ossification of pubic rami |
| HP:0009576 | Absent middle phalanx of 2nd finger |
| HP:0001638 | Cardiomyopathy |
| HP:0000739 | Anxiety |
| HP:0000233 | Thin vermilion border |
| HP:0100852 | Abnormal fear/anxiety-related behavior |
| HP:0031589 | Suicidal ideation |
| HP:0009778 | Short thumb |
| HP:0000737 | Irritability |
| HP:0002827 | Hip dislocation |
| HP:0000348 | High forehead |
| HP:0009881 | Aplasia of the distal phalanges of the hand |
| HP:0000773 | Short ribs |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0000486 | Strabismus |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001345 | Psychotic mentation |
| HP:0000520 | Proptosis |
| HP:0000653 | Sparse eyelashes |
| HP:0001798 | Anonychia |
| HP:0004611 | Anterior concavity of thoracic vertebrae |
| HP:0001518 | Small for gestational age |
| HP:0003577 | Congenital onset |
| HP:0009882 | Short distal phalanx of finger |
| HP:0008551 | Microtia |
| HP:0002460 | Distal muscle weakness |
| HP:0100817 | Renovascular hypertension |
| HP:0045075 | Sparse eyebrow |
| HP:0000162 | Glossoptosis |
| HP:0009835 | Aplasia/Hypoplasia of the distal phalanges of the hand |
| HP:0003561 | Birth length less than 3rd percentile |
| HP:0000028 | Cryptorchidism |
| HP:0001999 | Abnormal facial shape |
| HP:0000882 | Hypoplastic scapulae |
| HP:0002126 | Polymicrogyria |
| HP:0004331 | Decreased skull ossification |
| HP:0006709 | Aplasia/Hypoplasia of the nipples |
| HP:0002139 | Arrhinencephaly |
| HP:0001511 | Intrauterine growth retardation |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0025430 | High-pitched cry |
| HP:0000647 | Sclerocornea |
| HP:0009536 | Short 2nd finger |
| HP:0000188 | Short upper lip |
| HP:0011309 | Tapered toe |
| HP:0030084 | Clinodactyly |
| HP:0000054 | Micropenis |
| HP:0005474 | Decreased calvarial ossification |
| HP:0001561 | Polyhydramnios |
| HP:0001831 | Short toe |
| HP:0012809 | Narrow nasal base |
| HP:0007373 | Motor neuron atrophy |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0001629 | Ventricular septal defect |
| HP:0000239 | Large fontanelles |
| HP:0012531 | Pain |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0003180 | Flat acetabular roof |
| HP:0008665 | Clitoral hypertrophy |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Low | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | adipocytes | Medium | Approved |
| breast | glandular cells | High | Approved |
| breast | myoepithelial cells | High | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| caudate | glial cells | Medium | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebellum | cells in granular layer | Medium | 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 | Medium | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Medium | Approved |
| hippocampus | neuronal cells | High | Approved |
| kidney | cells in glomeruli | Medium | 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 | Medium | Approved |
| ovary | follicle cells | High | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Medium | 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 | Medium | Approved |
| seminal vesicle | glandular cells | High | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | High | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Medium | 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 | High | 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 | Medium | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | High | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| yunis-varon syndrome | MONDO:0008995 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:216340 | Orphanet:3472 |
| charcot-marie-tooth disease type 4j | MONDO:0012640 | G60 | chapter6, Diseases of the nervous system | OMIM:611228 | Orphanet:139515 |
| amyotrophic lateral sclerosis type 11 | MONDO:0012945 | G12 | chapter6, Diseases of the nervous system | OMIM:612577 | |
| bilateral parasagittal parieto-occipital polymicrogyria | MONDO:0012986 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:612691 | Orphanet:208441 |