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 located in site of double-strand break. 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
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa35823 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
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 |
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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 |
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Domain Details Per Protein
Protein | Additional Resources | 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 | InterPro | 588 | |||||||||
UniProtKB:A0A8M6YSB6 | InterPro | 371 | |||||||||
UniProtKB:Q08BP0 | InterPro | 586 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-243K1 | ZFIN Curated Data | |
Encodes | EST | fe48d04 | ||
Encodes | cDNA | MGC:153084 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001077578 (1) | 2221 nt | ||
Genomic | GenBank:CR925813 (1) | 48715 nt | ||
Polypeptide | UniProtKB:A0A0R4IRS4 (1) | 588 aa |