Protein family
Protein sequence
Protein function
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 |
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 |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-74217 | Purine salvage | Leaf | R-HSA-1430728 | Metabolism |
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 |
Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
---|---|---|---|---|---|
adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency | MONDO:0014899 | G71 | chapter6, Diseases of the nervous system | OMIM:617070 | Orphanet:329314 |
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 | ||
portal hypertension- noncirrhotic- 1 | MONDO:8000013 | K76 | chapter11, Diseases of the digestive system | OMIM:617068 |