Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.7.1.20
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
adenosine kinase
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0044209 | AMP salvage |
| Biological Process | GO:0032263 | GMP salvage |
| Biological Process | GO:0106383 | dAMP salvage |
| Biological Process | GO:0006175 | dATP biosynthetic process |
| Biological Process | GO:0016310 | phosphorylation |
| Biological Process | GO:0006144 | purine nucleobase metabolic process |
| Biological Process | GO:0006166 | purine ribonucleoside salvage |
| Biological Process | GO:0009156 | ribonucleoside monophosphate biosynthetic process |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0004001 | adenosine kinase activity |
| Molecular Function | GO:0004136 | deoxyadenosine kinase activity |
| Molecular Function | GO:0046872 | metal ion binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-74217 | Purine salvage | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-9755088 | Ribavirin ADME | Leaf | R-HSA-9748784 | Drug ADME |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:19635462 |
| Nucleus | ECO:0000269 | PubMed:19635462 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000256 | Macrocephaly |
| HP:0000316 | Hypertelorism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001396 | Cholestasis |
| HP:0001397 | Hepatic steatosis |
| HP:0001508 | Failure to thrive |
| HP:0001642 | Pulmonic stenosis |
| HP:0001680 | Coarctation of aorta |
| HP:0001684 | Secundum atrial septal defect |
| HP:0001786 | Narrow foot |
| HP:0002007 | Frontal bossing |
| HP:0002059 | Cerebral atrophy |
| HP:0002465 | Poor speech |
| HP:0002904 | Hyperbilirubinemia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003235 | Hypermethioninemia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003676 | Progressive |
| HP:0006580 | Portal fibrosis |
| HP:0008151 | Prolonged prothrombin time |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0011344 | Severe global developmental delay |
| HP:0012736 | Profound global developmental delay |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0034730 | Elevated circulating S-adenosyl-L-homocysteine concentration |
| HP:0034731 | Elevated circulating S-adenosyl-L-methionine concentration |
| HP:0500210 | Increased CSF methionine concentration |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | Low | Approved |
| appendix | glandular cells | Medium | Approved |
| breast | glandular cells | Low | Approved |
| breast | myoepithelial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| cervix | glandular cells | Medium | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | 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 | Low | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Low | Approved |
| heart muscle | cardiomyocytes | Low | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Low | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Medium | 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 |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Low | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | 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 | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| adenosine kinase deficiency | MONDO:0100255 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:611094 | Orphanet:289290 |
| adenosine kinase deficiency | MONDO:0100255 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:614300 | Orphanet:289290 |