Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.7.1.-
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
2.7.1.21
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
thymidine kinase
2.7.1.74
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
deoxycytidine kinase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0071897 | DNA biosynthetic process |
| Biological Process | GO:0046092 | deoxycytidine metabolic process |
| Biological Process | GO:0006139 | nucleobase-containing compound metabolic process |
| Biological Process | GO:0016310 | phosphorylation |
| Biological Process | GO:0043097 | pyrimidine nucleoside salvage |
| Biological Process | GO:0046104 | thymidine metabolic process |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0004137 | deoxycytidine kinase activity |
| Molecular Function | GO:0019136 | deoxynucleoside kinase activity |
| Molecular Function | GO:0019206 | nucleoside kinase activity |
| Molecular Function | GO:0004797 | thymidine kinase activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-73614 | Pyrimidine salvage | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000269 | PubMed:9989599 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000298 | Mask-like facies |
| HP:0000365 | Hearing impairment |
| HP:0000479 | Abnormal retinal morphology |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000544 | External ophthalmoplegia |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000648 | Optic atrophy |
| HP:0000716 | Depression |
| HP:0000737 | Irritability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001260 | Dysarthria |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001283 | Bulbar palsy |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001349 | Facial diplegia |
| HP:0001488 | Bilateral ptosis |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001621 | Weak voice |
| HP:0001638 | Cardiomyopathy |
| HP:0002015 | Dysphagia |
| HP:0002059 | Cerebral atrophy |
| HP:0002067 | Bradykinesia |
| HP:0002093 | Respiratory insufficiency |
| HP:0002098 | Respiratory distress |
| HP:0002134 | Abnormal basal ganglia morphology |
| HP:0002151 | Increased serum lactate |
| HP:0002194 | Delayed gross motor development |
| HP:0002197 | Generalized-onset seizure |
| HP:0002333 | Motor deterioration |
| HP:0002345 | Action tremor |
| HP:0002355 | Difficulty walking |
| HP:0002362 | Shuffling gait |
| HP:0002376 | Developmental regression |
| HP:0002396 | Cogwheel rigidity |
| HP:0002460 | Distal muscle weakness |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002540 | Inability to walk |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication |
| HP:0002650 | Scoliosis |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002878 | Respiratory failure |
| HP:0002921 | Abnormal cerebrospinal fluid morphology |
| HP:0002936 | Distal sensory impairment |
| HP:0003128 | Lactic acidosis |
| HP:0003198 | Myopathy |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003324 | Generalized muscle weakness |
| HP:0003326 | Myalgia |
| HP:0003355 | Aminoaciduria |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003391 | Gowers sign |
| HP:0003401 | Paresthesia |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003546 | Exercise intolerance |
| HP:0003552 | Muscle stiffness |
| HP:0003593 | Infantile onset |
| HP:0003596 | Middle age onset |
| HP:0003676 | Progressive |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers |
| HP:0003690 | Limb muscle weakness |
| HP:0003691 | Scapular winging |
| HP:0003698 | Difficulty standing |
| HP:0003700 | Generalized amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003737 | Mitochondrial myopathy |
| HP:0003819 | Death in childhood |
| HP:0005946 | Ventilator dependence with inability to wean |
| HP:0006532 | Recurrent pneumonia |
| HP:0006887 | Intellectual disability, progressive |
| HP:0007105 | Infantile encephalopathy |
| HP:0007269 | Spinal muscular atrophy |
| HP:0007641 | Dyschromatopsia |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0008610 | Infantile sensorineural hearing impairment |
| HP:0008625 | Severe sensorineural hearing impairment |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008945 | Loss of ability to walk in early childhood |
| HP:0009073 | Progressive proximal muscle weakness |
| HP:0009141 | Depletion of mitochondrial DNA in muscle tissue |
| HP:0009830 | Peripheral neuropathy |
| HP:0010628 | Facial palsy |
| HP:0011463 | Childhood onset |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0011925 | Decreased activity of mitochondrial ATP synthase complex |
| HP:0012432 | Chronic fatigue |
| HP:0025403 | Stooped posture |
| HP:0030237 | Hand muscle weakness |
| HP:0030319 | Weakness of facial musculature |
| HP:0100295 | Muscle fiber atrophy |
| HP:0100543 | Cognitive impairment |
| HP:0100653 | Optic neuritis |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| mitochondrial dna depletion syndrome, myopathic form | MONDO:0012301 | G71 | chapter6, Diseases of the nervous system | OMIM:609560 | Orphanet:254875 |
| progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 | MONDO:0014898 | H49 | chapter7, Diseases of the eye and adnexa | OMIM:617069 |