Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.3.1
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
alkaline phosphatase
3.9.1.1
Hydrolases;
Acting on phosphorus-nitrogen bonds;
Acting on phosphorus-nitrogen bonds (only sub-subclass identified to date);
phosphoamidase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0030282 | bone mineralization |
| Biological Process | GO:0055074 | calcium ion homeostasis |
| Biological Process | GO:0019725 | cellular homeostasis |
| Biological Process | GO:0071407 | cellular response to organic cyclic compound |
| Biological Process | GO:0071529 | cementum mineralization |
| Biological Process | GO:0016311 | dephosphorylation |
| Biological Process | GO:0003006 | developmental process involved in reproduction |
| Biological Process | GO:0001958 | endochondral ossification |
| Biological Process | GO:0140651 | futile creatine cycle |
| Biological Process | GO:0140928 | inhibition of non-skeletal tissue mineralization |
| Biological Process | GO:0001649 | osteoblast differentiation |
| Biological Process | GO:0055062 | phosphate ion homeostasis |
| Biological Process | GO:0120162 | positive regulation of cold-induced thermogenesis |
| Biological Process | GO:0042822 | pyridoxal phosphate metabolic process |
| Biological Process | GO:0046677 | response to antibiotic |
| Biological Process | GO:0051384 | response to glucocorticoid |
| Biological Process | GO:0032868 | response to insulin |
| Biological Process | GO:0032496 | response to lipopolysaccharide |
| Biological Process | GO:0036005 | response to macrophage colony-stimulating factor |
| Biological Process | GO:1904383 | response to sodium phosphate |
| Biological Process | GO:0034516 | response to vitamin B6 |
| Biological Process | GO:0033280 | response to vitamin D |
| Biological Process | GO:0001501 | skeletal system development |
| Molecular Function | GO:0043262 | ADP phosphatase activity |
| Molecular Function | GO:0016887 | ATP hydrolysis activity |
| Molecular Function | GO:0004035 | alkaline phosphatase activity |
| Molecular Function | GO:0005509 | calcium ion binding |
| Molecular Function | GO:0004427 | inorganic diphosphate phosphatase activity |
| Molecular Function | GO:0050187 | phosphoamidase activity |
| Molecular Function | GO:0052732 | phosphoethanolamine phosphatase activity |
| Molecular Function | GO:0033883 | pyridoxal phosphatase activity |
| Molecular Function | GO:0016462 | pyrophosphatase activity |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0031012 | extracellular matrix |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005758 | mitochondrial intermembrane space |
| Cellular Component | GO:0031966 | mitochondrial membrane |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins | Internal node | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell membrane | ECO:0000269 | PubMed:2220817 |
| Cell membrane | ECO:0000269 | PubMed:23688511 |
| Cell membrane | ECO:0000269 | PubMed:25982064 |
| Cell membrane | ECO:0000269 | PubMed:33821301 |
| Extracellular vesicle membrane | ECO:0000250 | |
| Mitochondrion intermembrane space | ECO:0000250 | |
| Mitochondrion membrane | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000121 | Nephrocalcinosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0000268 | Dolichocephaly |
| HP:0000520 | Proptosis |
| HP:0000592 | Blue sclerae |
| HP:0000670 | Carious teeth |
| HP:0000737 | Irritability |
| HP:0000773 | Short ribs |
| HP:0000897 | Rachitic rosary |
| HP:0000926 | Platyspondyly |
| HP:0000934 | Chondrocalcinosis |
| HP:0001024 | Skin dimple over apex of long bone angulation |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001363 | Craniosynostosis |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001561 | Polyhydramnios |
| HP:0001760 | Abnormal foot morphology |
| HP:0001903 | Anemia |
| HP:0001945 | Fever |
| HP:0002007 | Frontal bossing |
| HP:0002013 | Vomiting |
| HP:0002019 | Constipation |
| HP:0002039 | Anorexia |
| HP:0002104 | Apnea |
| HP:0002150 | Hypercalciuria |
| HP:0002170 | Intracranial hemorrhage |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002515 | Waddling gait |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0002748 | Rickets |
| HP:0002749 | Osteomalacia |
| HP:0002756 | Pathologic fracture |
| HP:0002757 | Recurrent fractures |
| HP:0002979 | Bowing of the legs |
| HP:0002983 | Micromelia |
| HP:0003021 | Metaphyseal cupping |
| HP:0003040 | Arthropathy |
| HP:0003072 | Hypercalcemia |
| HP:0003198 | Myopathy |
| HP:0003239 | Phosphoethanolaminuria |
| HP:0003282 | Low alkaline phosphatase |
| HP:0003491 | Elevated urine pyrophosphate |
| HP:0003826 | Stillbirth |
| HP:0004322 | Short stature |
| HP:0004492 | Widely patent fontanelles and sutures |
| HP:0004606 | Unossified vertebral bodies |
| HP:0005474 | Decreased calvarial ossification |
| HP:0006323 | Premature loss of primary teeth |
| HP:0006357 | Premature loss of permanent teeth |
| HP:0006385 | Short lower limbs |
| HP:0008428 | Vertebral clefting |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0011864 | Elevated plasma pyrophosphate |
| HP:0025430 | High-pitched cry |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | High | Enhanced |
| appendix | glandular cells | Low | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| breast | glandular cells | Low | Enhanced |
| breast | myoepithelial cells | Medium | Enhanced |
| bronchus | ciliated cells (cell body) | Low | Enhanced |
| caudate | neuronal cells | Low | Enhanced |
| cerebellum | cells in molecular layer | Low | Enhanced |
| cerebral cortex | endothelial cells | Medium | Enhanced |
| cerebral cortex | neuronal cells | Medium | Enhanced |
| cervix | glandular cells | Low | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | Low | Enhanced |
| colon | peripheral nerve/ganglion | Low | Enhanced |
| duodenum | glandular cells | Low | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | glandular cells | Medium | Enhanced |
| epididymis | glandular cells | Medium | Enhanced |
| fallopian tube | glandular cells | Low | Enhanced |
| gallbladder | glandular cells | Low | Enhanced |
| hippocampus | neuronal cells | Low | Enhanced |
| kidney | cells in tubules | Medium | Enhanced |
| liver | hepatocytes | Medium | Enhanced |
| lung | macrophages | Medium | Enhanced |
| nasopharynx | ciliated cells (cell body) | Low | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| pancreas | pancreatic endocrine cells | Low | Enhanced |
| parathyroid gland | glandular cells | Low | Enhanced |
| placenta | decidual cells | Low | Enhanced |
| placenta | trophoblastic cells | Medium | Enhanced |
| prostate | glandular cells | Low | Enhanced |
| rectum | glandular cells | Low | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skeletal muscle | myocytes | Low | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Medium | Enhanced |
| small intestine | glandular cells | Low | Enhanced |
| stomach 1 | glandular cells | Low | Enhanced |
| stomach 2 | glandular cells | Low | Enhanced |
| testis | Leydig cells | Low | Enhanced |
| testis | cells in seminiferous ducts | Low | Enhanced |
| thyroid gland | glandular cells | Low | Enhanced |
| urinary bladder | urothelial cells | Low | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| obsolete adult hypophosphatasia | MONDO:0007798 | E83 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:146300 | Orphanet:247676 |
| obsolete infantile hypophosphatasia | MONDO:0009427 | E83 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:241500 | Orphanet:247651 |
| obsolete childhood hypophosphatasia | MONDO:0009428 | E83 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:241510 | Orphanet:247667 |
| perinatal lethal hypophosphatasia | MONDO:0016605 | E83 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:247623 | |
| odontohypophosphatasia | MONDO:0016607 | E83 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:247685 |