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    Pnkp polynucleotide kinase 3'-phosphatase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 308576, updated on 11-Apr-2024

    Summary

    Official Symbol
    Pnkpprovided by RGD
    Official Full Name
    polynucleotide kinase 3'-phosphataseprovided by RGD
    Primary source
    RGD:1303331
    See related
    Ensembl:ENSRNOG00000020318 AllianceGenome:RGD:1303331
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable several functions, including polydeoxyribonucleotide 5'-hydroxyl-kinase activity; polynucleotide 3'-phosphatase activity; and ubiquitin ligase-substrate adaptor activity. Predicted to be involved in several processes, including DNA repair; negative regulation of protein ADP-ribosylation; and positive regulation of DNA metabolic process. Located in mitochondrion. 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). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Testes (RPKM 95.5), Thymus (RPKM 78.5) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Pnkp in Genome Data Viewer
    Location:
    1q22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (104476801..104483409)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (95341465..95346921)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (100853475..100859202)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene TBC1 domain family, member 17 Neighboring gene AKT1 substrate 1 Neighboring gene PTOV1, extended AT-hook containing adaptor protein Neighboring gene mediator complex subunit 25

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    General gene information

    Markers

    Clone Names

    • MGC94448

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables polynucleotide 3'-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables polynucleotide 3'-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-like ligase-substrate adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA ligation involved in DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in double-strand break repair via nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of double-strand break repair via nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of telomere capping ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein K63-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in site of double-strand break ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    bifunctional polynucleotide phosphatase/kinase
    NP_001004259.1
    XP_006229120.1
    XP_017444627.1
    XP_038967937.1
    XP_063117997.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001004259.1NP_001004259.1  bifunctional polynucleotide phosphatase/kinase

      See identical proteins and their annotated locations for NP_001004259.1

      Status: PROVISIONAL

      Source sequence(s)
      BC079307
      UniProtKB/TrEMBL
      A0A0G2JUH4, Q6AXV0
      Related
      ENSRNOP00000069099.2, ENSRNOT00000083551.2
      Conserved Domains (1) summary
      TIGR01663
      Location:3522
      PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      104476801..104483409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063261927.1XP_063117997.1  bifunctional polynucleotide phosphatase/kinase isoform X1

    2. XM_039112009.2XP_038967937.1  bifunctional polynucleotide phosphatase/kinase isoform X3

      UniProtKB/TrEMBL
      A0A0G2JUH4
      Conserved Domains (1) summary
      TIGR01663
      Location:3472
      PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    3. XM_006229058.5XP_006229120.1  bifunctional polynucleotide phosphatase/kinase isoform X2

      UniProtKB/TrEMBL
      A0A8I6AJP5, F7F4C1
      Related
      ENSRNOP00000039388.3
      Conserved Domains (2) summary
      TIGR01663
      Location:3476
      PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
      cl17190
      Location:320396
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
    4. XM_017589138.2XP_017444627.1  bifunctional polynucleotide phosphatase/kinase isoform X4

      UniProtKB/TrEMBL
      A6JAT7
      Conserved Domains (3) summary
      TIGR01664
      Location:1110
      DNA-3'-Pase; DNA 3'-phosphatase
      pfam13671
      Location:148270
      AAA_33; AAA domain
      cl17190
      Location:148224
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...