ZFIN ID: ZDB-GENE-061013-433
Gene Name: polynucleotide kinase 3'-phosphatase
Gene Symbol: pnkp    Nomenclature History

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Previous Names: fe48d04, wu:fe48d04, zgc:153084

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(Including Attributions)
Gene 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 Charcot-Marie-Tooth disease type 2B2 and microcephaly, seizures, and developmental delay. Orthologous to human PNKP (polynucleotide kinase 3'-phosphatase).
Genome Resources: Alliance (1),  Gene:569462 (1),  Ensembl(GRCz11):ENSDARG00000100455 (1)
GENE EXPRESSION
High Throughput Expression: GEO (1) Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa35823 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH pnkp HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    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
    Ataxia-oculomotor apraxia 4 616267
    DISEASE ASSOCIATED WITH pnkp VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process DNA repair (more)
    Cellular Component nucleus (more)
    Molecular Function ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA pnkp-201 (1)    Ensembl 2206
    pnkp-204 (1)    Ensembl 683
    ncRNA pnkp-003 (1) 871
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM pnkp No data available
    MARKER RELATIONSHIPS
    pnkp Contained in: [BAC] DKEY-243K1 (1) (order this)
    pnkp Encodes: [EST] fe48d04
    [cDNA] MGC:153084 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001077578 (1) 2222 nt
    Genomic GenBank:CR925813 (1) 48715 nt
    Select Tool
    Polypeptide UniProtKB:A0A2R8QSN3 (1) 597 aa
    Sequence Information (all 16)
    ORTHOLOGY for pnkp ( Chr: 15 )
    CITATIONS (16)