Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.7.1.113
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
deoxyguanosine kinase
2.7.1.76
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
2′-deoxyadenosine kinase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2OCP | 2.8 | Crystal Structure of Human Deoxyguanosine Kinase |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006754 | ATP biosynthetic process |
| Biological Process | GO:0106383 | dAMP salvage |
| Biological Process | GO:0046070 | dGTP metabolic process |
| Biological Process | GO:0008617 | guanosine metabolic process |
| Biological Process | GO:0042775 | mitochondrial ATP synthesis coupled electron transport |
| Biological Process | GO:0010977 | negative regulation of neuron projection development |
| Biological Process | GO:0006468 | protein phosphorylation |
| Biological Process | GO:0046122 | purine deoxyribonucleoside metabolic process |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0004136 | deoxyadenosine kinase activity |
| Molecular Function | GO:0004138 | deoxyguanosine kinase activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-74217 | Purine salvage | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000549 | Abnormal conjugate eye movement |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000952 | Jaundice |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001265 | Hyporeflexia |
| HP:0001271 | Polyneuropathy |
| HP:0001298 | Encephalopathy |
| HP:0001347 | Hyperreflexia |
| HP:0001397 | Hepatic steatosis |
| HP:0001399 | Hepatic failure |
| HP:0001404 | Hepatocellular necrosis |
| HP:0001405 | Periportal fibrosis |
| HP:0001409 | Portal hypertension |
| HP:0001413 | Micronodular cirrhosis |
| HP:0001488 | Bilateral ptosis |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0001541 | Ascites |
| HP:0001618 | Dysphonia |
| HP:0001744 | Splenomegaly |
| HP:0001873 | Thrombocytopenia |
| HP:0001943 | Hypoglycemia |
| HP:0002013 | Vomiting |
| HP:0002015 | Dysphagia |
| HP:0002040 | Esophageal varix |
| HP:0002045 | Hypothermia |
| HP:0002059 | Cerebral atrophy |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002151 | Increased serum lactate |
| HP:0002240 | Hepatomegaly |
| HP:0002460 | Distal muscle weakness |
| HP:0002904 | Hyperbilirubinemia |
| HP:0002909 | Generalized aminoaciduria |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0003073 | Hypoalbuminemia |
| HP:0003128 | Lactic acidosis |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003201 | Rhabdomyolysis |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003326 | Myalgia |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003394 | Muscle spasm |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003558 | Viral infection-induced rhabdomyolysis |
| HP:0003584 | Late onset |
| HP:0003593 | Infantile onset |
| HP:0003596 | Middle age onset |
| HP:0003623 | Neonatal onset |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers |
| HP:0003689 | Multiple mitochondrial DNA deletions |
| HP:0003701 | Proximal muscle weakness |
| HP:0003749 | Pelvic girdle muscle weakness |
| HP:0003797 | Limb-girdle muscle atrophy |
| HP:0006254 | Elevated circulating alpha-fetoprotein concentration |
| HP:0006581 | Depletion of mitochondrial DNA in liver |
| HP:0007340 | Lower limb muscle weakness |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0008615 | Adult onset sensorineural hearing impairment |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0011462 | Young adult onset |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0025406 | Asthenia |
| HP:0100543 | Cognitive impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Low | Approved |
| appendix | lymphoid tissue | Low | Approved |
| breast | adipocytes | Low | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Low | Approved |
| cerebellum | cells in granular layer | Medium | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Low | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Low | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Low | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Low | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | follicle cells | Low | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Low | Approved |
| placenta | decidual cells | Low | Approved |
| placenta | trophoblastic cells | Low | 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 | Low | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Low | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 1 | chondrocytes | Medium | Approved |
| soft tissue 1 | fibroblasts | Low | Approved |
| soft tissue 2 | fibroblasts | Low | Approved |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in white pulp | Medium | Approved |
| stomach 1 | glandular cells | Low | Approved |
| stomach 2 | glandular cells | Low | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | High | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Low | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| mitochondrial dna depletion syndrome 3 | MONDO:0009636 | E79 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:251880 | Orphanet:279934 |
| mitochondrial dna depletion syndrome 3 | MONDO:0009636 | G71 | chapter6, Diseases of the nervous system | OMIM:251880 | Orphanet:279934 |
| obsolete portal hypertension- noncirrhotic | MONDO:0014897 | K76 | chapter11, Diseases of the digestive system | ||
| adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency | MONDO:0014899 | G71 | chapter6, Diseases of the nervous system | OMIM:617070 | Orphanet:329314 |
| portal hypertension- noncirrhotic- 1 | MONDO:8000013 | K76 | chapter11, Diseases of the digestive system | OMIM:617068 |