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

Gene ID: 308576, updated on 10-Oct-2024

Summary

Official Symbol
Pnkpprovided by RGD
Official Full Name
polynucleotide kinase 3'-phosphataseprovided by RGD
Primary source
RGD:1303331
See related
EnsemblRapid: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 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
 
acts_upstream_of_or_within positive regulation of telomere maintenance 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
    ENSRNOP00000069099.3, ENSRNOT00000083551.3
    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, ENSRNOT00000051640.4
    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 ...