Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.7.4.4
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with a phosphate group as acceptor;
nucleoside-phosphate kinase
2.7.4.6
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with a phosphate group as acceptor;
nucleoside-diphosphate kinase
PDB | Resolution (Å) | PDB name |
---|
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006756 | AMP phosphorylation |
Biological Process | GO:0016310 | phosphorylation |
Molecular Function | GO:0005524 | ATP binding |
Molecular Function | GO:0004017 | adenylate kinase activity |
Molecular Function | GO:0004550 | nucleoside diphosphate kinase activity |
Molecular Function | GO:0050145 | nucleoside monophosphate kinase activity |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0031965 | nuclear membrane |
Cellular Component | GO:0005654 | nucleoplasm |
Cellular Component | GO:0005634 | nucleus |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-499943 | Interconversion of nucleotide di- and triphosphates | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Cytoplasm | ECO:0000269 | PubMed:23416111 |
Nucleus | ECO:0000269 | PubMed:23416111 |
HPO ID | HPO name |
---|---|
HP:0000218 | High palate |
HP:0000496 | Abnormality of eye movement |
HP:0000508 | Ptosis |
HP:0000597 | Ophthalmoparesis |
HP:0000651 | Diplopia |
HP:0000961 | Cyanosis |
HP:0001315 | Reduced tendon reflexes |
HP:0001324 | Muscle weakness |
HP:0001446 | Abnormality of the musculature of the upper limbs |
HP:0002091 | Restrictive ventilatory defect |
HP:0002194 | Delayed gross motor development |
HP:0002329 | Drowsiness |
HP:0002650 | Scoliosis |
HP:0002792 | Reduced vital capacity |
HP:0002875 | Exertional dyspnea |
HP:0002878 | Respiratory failure |
HP:0003202 | Skeletal muscle atrophy |
HP:0003388 | Easy fatigability |
HP:0003402 | Decreased miniature endplate potentials |
HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
HP:0003443 | Decreased size of nerve terminals |
HP:0003458 | EMG: myopathic abnormalities |
HP:0003484 | Upper limb muscle weakness |
HP:0003547 | Shoulder girdle muscle weakness |
HP:0003722 | Neck flexor weakness |
HP:0003803 | Type 1 muscle fiber predominance |
HP:0005659 | Thoracic kyphoscoliosis |
HP:0009005 | Weakness of the intrinsic hand muscles |
HP:0009077 | Weakness of long finger extensor muscles |
HP:0010628 | Facial palsy |
HP:0012515 | Hip flexor weakness |
HP:0012764 | Orthopnea |
HP:0030196 | Fatigable weakness of respiratory muscles |
HP:0030199 | Fatigable weakness of neck muscles |
HP:0031108 | Triceps weakness |
HP:0031374 | Ankle weakness |
HP:0410011 | Abnormality of masticatory muscle |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
postsynaptic congenital myasthenic syndrome | MONDO:0020344 | G70 | chapter6, Diseases of the nervous system | Orphanet:98913 |