Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.7.1.78
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
polynucleotide 5′-hydroxyl-kinase
3.1.3.32
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
polynucleotide 3′-phosphatase
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0051103 | DNA ligation involved in DNA repair |
| Biological Process | GO:0006281 | DNA repair |
| Biological Process | GO:0006261 | DNA-templated DNA replication |
| Biological Process | GO:0006287 | base-excision repair, gap-filling |
| Biological Process | GO:0006303 | double-strand break repair via nonhomologous end joining |
| Biological Process | GO:0010836 | negative regulation of protein ADP-ribosylation |
| Biological Process | GO:0006289 | nucleotide-excision repair |
| Biological Process | GO:0016310 | phosphorylation |
| Biological Process | GO:2001034 | positive regulation of double-strand break repair via nonhomologous end joining |
| Biological Process | GO:0051973 | positive regulation of telomerase activity |
| Biological Process | GO:1904355 | positive regulation of telomere capping |
| Biological Process | GO:0032212 | positive regulation of telomere maintenance via telomerase |
| Biological Process | GO:0006979 | response to oxidative stress |
| Biological Process | GO:0009314 | response to radiation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0003684 | damaged DNA binding |
| Molecular Function | GO:0003690 | double-stranded DNA binding |
| Molecular Function | GO:0004519 | endonuclease activity |
| Molecular Function | GO:0046404 | polydeoxyribonucleotide 5'-hydroxyl-kinase activity |
| Molecular Function | GO:0046403 | polynucleotide 3'-phosphatase activity |
| Molecular Function | GO:0017076 | purine nucleotide binding |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005730 | nucleolus |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0035861 | site of double-strand break |
| InterPro
|
InterPro name |
|---|---|
| IPR006549 | HAD-superfamily hydrolase,subfamily IIIA |
| IPR006550 | Bifunctional polynucleotide phosphatase/kinase PNKP |
| IPR006551 | Polynucleotide 3'-phosphatase |
| IPR008984 | SMAD/FHA domain superfamily |
| IPR013954 | Polynucleotide kinase 3 phosphatase |
| IPR023214 | HAD superfamily |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR036412 | HAD-like superfamily |
| IPR041388 | PNK, FHA domain |
| Pfam
|
Pfam name |
|---|---|
| PF08645 | Polynucleotide kinase 3 phosphatase |
| PF13671 | AAA domain |
| PF17913 | FHA domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-5649702 | APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway | Leaf | R-HSA-73894 | DNA Repair |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Chromosome | ECO:0000269 | PubMed:28453785 |
| Nucleus | ECO:0000269 | PubMed:10446193 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000054 | Micropenis |
| HP:0000070 | Ureterocele |
| HP:0000110 | Renal dysplasia |
| HP:0000175 | Cleft palate |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000340 | Sloping forehead |
| HP:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0000657 | Oculomotor apraxia |
| HP:0000729 | Autistic behavior |
| HP:0000736 | Short attention span |
| HP:0000752 | Hyperactivity |
| HP:0000826 | Precocious puberty |
| HP:0001009 | Telangiectasia |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001266 | Choreoathetosis |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001284 | Areflexia |
| HP:0001302 | Pachygyria |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001500 | Broad finger |
| HP:0001508 | Failure to thrive |
| HP:0001513 | Obesity |
| HP:0001537 | Umbilical hernia |
| HP:0001629 | Ventricular septal defect |
| HP:0001761 | Pes cavus |
| HP:0001780 | Abnormal toe morphology |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002131 | Episodic ataxia |
| HP:0002172 | Postural instability |
| HP:0002353 | EEG abnormality |
| HP:0002360 | Sleep disturbance |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002442 | Dyscalculia |
| HP:0002445 | Tetraplegia |
| HP:0002460 | Distal muscle weakness |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002521 | Hypsarrhythmia |
| HP:0002751 | Kyphoscoliosis |
| HP:0002936 | Distal sensory impairment |
| HP:0003073 | Hypoalbuminemia |
| HP:0003124 | Hypercholesterolemia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0003560 | Muscular dystrophy |
| HP:0003581 | Adult onset |
| HP:0003621 | Juvenile onset |
| HP:0003678 | Rapidly progressive |
| HP:0003693 | Distal amyotrophy |
| HP:0005280 | Depressed nasal bridge |
| HP:0006254 | Elevated circulating alpha-fetoprotein concentration |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007204 | Diffuse white matter abnormalities |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007359 | Focal-onset seizure |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0009381 | Short finger |
| HP:0009830 | Peripheral neuropathy |
| HP:0009879 | Simplified gyral pattern |
| HP:0010174 | Broad phalanx of the toes |
| HP:0010522 | Dyslexia |
| HP:0010818 | Generalized tonic seizure |
| HP:0010819 | Atonic seizure |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010851 | EEG with burst suppression |
| HP:0010864 | Intellectual disability, severe |
| HP:0011169 | Generalized clonic seizure |
| HP:0011190 | Uni- and bilateral multifocal epileptiform discharges |
| HP:0011463 | Childhood onset |
| HP:0012448 | Delayed myelination |
| HP:0012469 | Infantile spasms |
| HP:0012554 | Absent thumbnail |
| HP:0100543 | Cognitive impairment |
| HP:0100660 | Dyskinesia |
| HP:0100716 | Self-injurious behavior |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Supported |
| adrenal gland | glandular cells | High | Supported |
| appendix | glandular cells | High | Supported |
| appendix | lymphoid tissue | Medium | Supported |
| bone marrow | hematopoietic cells | High | Supported |
| breast | adipocytes | Medium | Supported |
| breast | glandular cells | High | Supported |
| breast | myoepithelial cells | High | Supported |
| bronchus | respiratory epithelial cells | High | Supported |
| caudate | glial cells | Medium | Supported |
| caudate | neuronal cells | High | Supported |
| cerebellum | Purkinje cells | Medium | Supported |
| cerebellum | cells in granular layer | Medium | Supported |
| cerebellum | cells in molecular layer | High | Supported |
| cerebral cortex | endothelial cells | Medium | Supported |
| cerebral cortex | glial cells | Medium | Supported |
| cerebral cortex | neuronal cells | High | Supported |
| cerebral cortex | neuropil | Low | Supported |
| cervix | glandular cells | High | Supported |
| colon | endothelial cells | Medium | Supported |
| colon | glandular cells | Medium | Supported |
| duodenum | glandular cells | Medium | Supported |
| endometrium 1 | cells in endometrial stroma | Medium | Supported |
| endometrium 1 | glandular cells | High | Supported |
| endometrium 2 | cells in endometrial stroma | Medium | Supported |
| endometrium 2 | glandular cells | High | Supported |
| epididymis | glandular cells | High | Supported |
| esophagus | squamous epithelial cells | High | Supported |
| fallopian tube | glandular cells | High | Supported |
| gallbladder | glandular cells | Medium | Supported |
| heart muscle | cardiomyocytes | Low | Supported |
| hippocampus | glial cells | Medium | Supported |
| hippocampus | neuronal cells | High | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | Medium | Supported |
| liver | hepatocytes | Low | Supported |
| lung | alveolar cells type I | High | Supported |
| lung | alveolar cells type II | High | Supported |
| lung | endothelial cells | High | Supported |
| lung | macrophages | High | Supported |
| lymph node | germinal center cells | Medium | Supported |
| lymph node | non-germinal center cells | Medium | Supported |
| nasopharynx | respiratory epithelial cells | High | Supported |
| oral mucosa | squamous epithelial cells | Medium | Supported |
| ovary | ovarian stroma cells | Low | Supported |
| pancreas | exocrine glandular cells | High | Supported |
| pancreas | pancreatic endocrine cells | High | Supported |
| parathyroid gland | glandular cells | High | Supported |
| placenta | decidual cells | High | Supported |
| placenta | trophoblastic cells | High | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | High | Supported |
| seminal vesicle | glandular cells | High | Supported |
| skeletal muscle | myocytes | Medium | Supported |
| skin 1 | Langerhans | Medium | Supported |
| skin 1 | fibroblasts | High | Supported |
| skin 1 | keratinocytes | Medium | Supported |
| skin 1 | melanocytes | Medium | Supported |
| skin 2 | epidermal cells | High | Supported |
| small intestine | glandular cells | Medium | Supported |
| soft tissue 1 | fibroblasts | Medium | Supported |
| soft tissue 1 | peripheral nerve | Medium | Supported |
| soft tissue 2 | fibroblasts | Medium | Supported |
| spleen | cells in red pulp | Medium | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | pachytene spermatocytes | Low | Supported |
| testis | round or early spermatids | Medium | Supported |
| thyroid gland | glandular cells | High | Supported |
| tonsil | germinal center cells | Medium | Supported |
| tonsil | non-germinal center cells | High | Supported |
| tonsil | squamous epithelial cells | Medium | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | High | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| charcot-marie-tooth disease type 2b2 | MONDO:0011570 | G60 | chapter6, Diseases of the nervous system | OMIM:605589 | Orphanet:101101 |
| microcephaly, seizures, and developmental delay | MONDO:0013254 | G40 | chapter6, Diseases of the nervous system | OMIM:613402 | Orphanet:228418 |
| microcephaly, seizures, and developmental delay | MONDO:0013254 | Q02 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:613402 | Orphanet:228418 |
| developmental and epileptic encephalopathy, 12 | MONDO:0013389 | G40 | chapter6, Diseases of the nervous system | OMIM:613722 | |
| ataxia - oculomotor apraxia type 4 | MONDO:0014557 | G24 | chapter6, Diseases of the nervous system | OMIM:616267 | Orphanet:459033 |
| ataxia - oculomotor apraxia type 4 | MONDO:0014557 | G62 | chapter6, Diseases of the nervous system | OMIM:616267 | Orphanet:459033 |