| URN | urn:agi-llid:11284 |
|---|---|
| Total Entities | 0 |
| Connectivity | 64 |
| Name | Pnkp |
| Description | polynucleotide kinase 3'-phosphatase |
| Notes | This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010] |
| Ariadne Ontology | DNA repair |
|---|
| GO Molecular Function | purine nucleotide binding |
|---|---|
| ATP binding | |
| damaged DNA binding | |
| double-stranded DNA binding | |
| kinase activity | |
| ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity | |
| nucleotide kinase activity | |
| endonuclease activity | |
| polynucleotide 3'-phosphatase activity |
| GO Cellular Component | nucleolus |
|---|---|
| nucleus |
| GO Biological Process | nucleotide-excision repair, DNA damage removal |
|---|---|
| DNA repair | |
| DNA-dependent DNA replication | |
| nucleotide phosphorylation | |
| dephosphorylation | |
| phosphorylation | |
| DNA damage response, detection of DNA damage | |
| response to oxidative stress | |
| response to radiation |
| Pathway | Single-Strand Base Excision DNA Repair |
|---|---|
| Double Strand DNA Non-Homologous Repair | |
| non-homologous end joining pathway of double-strand break repair |
| Group | DNA repair |
|---|---|
| nucleotide-excision repair, DNA damage removal | |
| DNA repair | |
| DNA-dependent DNA replication | |
| nucleotide phosphorylation | |
| dephosphorylation | |
| phosphorylation | |
| DNA damage response, detection of DNA damage | |
| response to oxidative stress | |
| response to radiation | |
| purine nucleotide binding | |
| ATP binding | |
| damaged DNA binding | |
| double-stranded DNA binding | |
| kinase activity | |
| ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity | |
| nucleotide kinase activity | |
| endonuclease activity | |
| polynucleotide 3'-phosphatase activity | |
| nucleolus | |
| nucleus |
| MedScan ID | 11284 |
|---|
| Hugo ID | 9154 |
|---|
| Human chromosome position | 19q13.3-q13.4 |
|---|
| LocusLink ID | 11284 |
|---|---|
| 59047 | |
| 308576 |
| Alias | PNK |
|---|---|
| MCSZ | |
| EIEE10 | |
| bifunctional polynucleotide phosphatase/kinase | |
| DNA 5'-kinase/3'-phosphatase | |
| Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP) | |
| 1810009G08Rik | |
| polynucleotide kinase-3'-phosphatase | |
| OTTMUSP00000025291 | |
| polynucleotide kinase 3'-phosphatase, partial sequence | |
| polynucleotide kinase 3'-phosphatase, amino acids 68-521 | |
| PNKP | |
| OTTMUSP00000025292 | |
| polynucleotide kinase 3-prime-phosphatase | |
| polynucleotide kinase 3'- phosphatase | |
| MGC94448 | |
| 1810009G08 | |
| AA682096 | |
| homo sapiens polynucleotide kinase 3'-phosphatase |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605610 |
|---|---|
| 613402 |
| Unigene ID | Hs.732075 |
|---|---|
| Mm.238254 | |
| Rn.45061 |
| KEGG ID | hsa:11284 |
|---|---|
| mmu:59047 | |
| rno:308576 |
| Swiss-Prot Accession | Q96T60 |
|---|---|
| G5E8N7 | |
| Q9JLV6 | |
| Q6AXV0 | |
| Q9P1V2 | |
| Q9UKU8 | |
| Q9UNF8 | |
| Q9UNI0 |
| EC Number | 3.1.3.32 |
|---|---|
| 2.7.1.78 |
| GO ID | 0005524 |
|---|---|
| 0046404 | |
| 0003684 | |
| 0003690 | |
| 0004519 | |
| 0019201 | |
| 0046403 | |
| 0017076 | |
| 0042769 | |
| 0006281 | |
| 0006261 | |
| 0016311 | |
| 0046939 | |
| 0000718 | |
| 0006979 | |
| 0009314 | |
| 0005730 | |
| 0005634 | |
| 0016301 | |
| 0016310 |
| Swiss-Prot ID | PNKP_HUMAN |
|---|
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00290684 |
|---|
| Mouse chromosome position | 7 |
|---|
| Rat chromosome position | 1q22 |
|---|
| Homologene ID | 5247 |
|---|
| MGI ID | 1891698 |
|---|
| RGD ID | 1303331 |
|---|
| Primary Cell Localization | Nucleus |
|---|