Gene
pnkp
- ID
- ZDB-GENE-061013-433
- Name
- polynucleotide kinase 3'-phosphatase
- Symbol
- pnkp Nomenclature History
- Previous Names
-
- fe48d04
- wu:fe48d04
- zgc:153084
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity and polynucleotide 3'-phosphatase activity. Predicted to be involved in DNA repair. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2B2; ataxia-oculomotor apraxia type 4; and microcephaly, seizures, and developmental delay. Orthologous to human PNKP (polynucleotide kinase 3'-phosphatase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ataxia-oculomotor apraxia type 4 | Alliance | Ataxia-oculomotor apraxia 4 | 616267 |
| Charcot-Marie-Tooth disease type 2B2 | Alliance | ?Charcot-Marie-Tooth disease, type 2B2 | 605589 |
| microcephaly, seizures, and developmental delay | Alliance | Microcephaly, seizures, and developmental delay | 613402 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR006549 | HAD-superfamily hydrolase,subfamily IIIA |
| Domain | IPR006551 | Polynucleotide 3'-phosphatase |
| Domain | IPR041388 | PNK, FHA domain |
| Family | IPR006550 | Bifunctional polynucleotide phosphatase/kinase PNKP |
| Family | IPR013954 | Polynucleotide kinase 3 phosphatase |
| Homologous_superfamily | IPR008984 | SMAD/FHA domain superfamily |
| Homologous_superfamily | IPR023214 | HAD superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036412 | HAD-like superfamily |
Domain Details Per Protein
| Protein | Length | Bifunctional polynucleotide phosphatase/kinase PNKP | HAD-like superfamily | HAD superfamily | HAD-superfamily hydrolase,subfamily IIIA | P-loop containing nucleoside triphosphate hydrolase | PNK, FHA domain | Polynucleotide 3'-phosphatase | Polynucleotide kinase 3 phosphatase | SMAD/FHA domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IRS4
|
588 | |||||||||
|
UniProtKB:A0A8M6YSB6
|
371 | |||||||||
|
UniProtKB:Q08BP0
|
586 |
Interactions and Pathways
No data available
Plasmids
No data available