Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.7.11.1
Transferases;
Transferring phosphorus-containing groups;
Protein-serine/threonine kinases;
non-specific serine/threonine protein kinase
3.6.-.-
Hydrolases;
Acting on acid anhydrides;
;
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 6WQX | 2.53 | Human PRPK-TPRKB complex |
| 7SZA | 1.9 | Crystal Structure Analysis of human PRPK complex with a compound |
| 7SZB | 2.02 | Crystal Structure Analysis of human PRPK complex with a compound |
| 7SZC | 1.71 | Crystal Structure Analysis of human PRPK complex with a compound |
| 7SZD | 2.05 | Crystal Structure Analysis of human PRPK complex with a compound |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006468 | protein phosphorylation |
| Biological Process | GO:1901796 | regulation of signal transduction by p53 class mediator |
| Biological Process | GO:0008033 | tRNA processing |
| Biological Process | GO:0070525 | tRNA threonylcarbamoyladenosine metabolic process |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0016787 | hydrolase activity |
| Molecular Function | GO:0002039 | p53 binding |
| Molecular Function | GO:0106310 | protein serine kinase activity |
| Molecular Function | GO:0004674 | protein serine/threonine kinase activity |
| Cellular Component | GO:0000408 | EKC/KEOPS complex |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-6782315 | tRNA modification in the nucleus and cytosol | Internal node | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation | Leaf | R-HSA-74160 | Gene expression (Transcription) |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:28805828 |
| Nucleus | ECO:0000269 | PubMed:22912744 |
| Nucleus | ECO:0000269 | PubMed:27903914 |
| Nucleus | ECO:0000269 | PubMed:28805828 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000164 | Abnormality of the dentition |
| HP:0000252 | Microcephaly |
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000400 | Macrotia |
| HP:0000411 | Protruding ear |
| HP:0000505 | Visual impairment |
| HP:0000601 | Hypotelorism |
| HP:0000750 | Delayed speech and language development |
| HP:0001034 | Hypermelanotic macule |
| HP:0001181 | Adducted thumb |
| HP:0001182 | Tapered finger |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001302 | Pachygyria |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001357 | Plagiocephaly |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001622 | Premature birth |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0002036 | Hiatus hernia |
| HP:0002057 | Prominent glabella |
| HP:0002059 | Cerebral atrophy |
| HP:0002126 | Polymicrogyria |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002353 | EEG abnormality |
| HP:0002410 | Aqueductal stenosis |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004322 | Short stature |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0005108 | Abnormal intervertebral disk morphology |
| HP:0008677 | Congenital nephrotic syndrome |
| HP:0010978 | Abnormality of immune system physiology |
| HP:0011451 | Primary microcephaly |
| HP:0011968 | Feeding difficulties |
| HP:0100490 | Camptodactyly of finger |
| HP:0100543 | Cognitive impairment |
| HP:0100720 | Hypoplasia of the ear cartilage |
| HP:0100729 | Large face |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| galloway-mowat syndrome 4 | MONDO:0033008 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:617730 |