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 have double-stranded DNA binding activity; nucleobase-containing compound kinase activity; and polynucleotide 3'-phosphatase activity. Predicted to be involved in DNA repair and nucleotide phosphorylation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in 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