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    Pole DNA polymerase epsilon, catalytic subunit [ Rattus norvegicus (Norway rat) ]

    Gene ID: 304573, updated on 13-Apr-2024

    Summary

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    Official Symbol
    Poleprovided by RGD
    Official Full Name
    DNA polymerase epsilon, catalytic subunitprovided by RGD
    Primary source
    RGD:1594540
    See related
    Ensembl:ENSRNOG00000037449 AllianceGenome:RGD:1594540
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    POLE1
    Summary
    Enables DNA-directed DNA polymerase activity. Involved in DNA biosynthetic process and embryonic organ development. Predicted to be located in nucleoplasm and plasma membrane. Predicted to be part of epsilon DNA polymerase complex. Human ortholog(s) of this gene implicated in colorectal cancer. Orthologous to human POLE (DNA polymerase epsilon, catalytic subunit). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Thymus (RPKM 88.2), Spleen (RPKM 65.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    12q16
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 12 NC_086030.1 (52005155..52053761, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 12 NC_051347.1 (46345420..46393984, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 12 NC_005111.4 (52403533..52452075, complement)

    Chromosome 12 - NC_086030.1Genomic Context describing neighboring genes Neighboring gene fibrosin-like 1 Neighboring gene leucine rich colipase-like 1 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene purinergic receptor P2X 2 Neighboring gene peroxisomal membrane protein 2 Neighboring gene PGAM family member 5, mitochondrial serine/threonine protein phosphatase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Molecular Classification of Grade 3 Endometrioid Endometrial Cancers Identifies Distinct Prognostic Subgroups. Bosse T, et al. Am J Surg Pathol, 2018 May. PMID 29505428, Free PMC Article
    2. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Buchanan DD, et al. Genet Med, 2018 Aug. PMID 29120461, Free PMC Article
    3. Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment. Stenzinger A, et al. Cancer Med, 2014 Dec. PMID 25124163, Free PMC Article
    4. Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns. Hu H, et al. Cancer Med, 2021 Jan. PMID 33125191, Free PMC Article
    5. Somatic POLE exonuclease domain mutations elicit enhanced intratumoral immune responses in stage II colorectal cancer. Mo S, et al. J Immunother Cancer, 2020 Aug. PMID 32859741, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables DNA-directed DNA polymerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables single-stranded DNA 3'-5' DNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA replication proofreading IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA synthesis involved in DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA-templated DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in G1/S transition of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in base-excision repair, gap-filling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in base-excision repair, gap-filling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in embryonic organ development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in leading strand elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleotide-excision repair, DNA gap filling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleotide-excision repair, DNA gap filling ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of epsilon DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of epsilon DNA polymerase complex 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
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA polymerase epsilon catalytic subunit A
    Names
    DNA-directed DNA polymerase epsilon
    polymerase (DNA directed), epsilon, catalytic subunit
    polymerase (DNA) epsilon, catalytic subunit
    NP_001100622.2
    XP_038945444.1
    XP_038945445.1
    XP_063127465.1
    XP_063127466.1

    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_001107152.2 → NP_001100622.2  DNA polymerase epsilon catalytic subunit A

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000012
      UniProtKB/TrEMBL
      D3Z8X4
      Related
      ENSRNOP00000058920.1, ENSRNOT00000067453.4
      Conserved Domains (5) summary
      cd05779
      Location:268 → 471
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:531 → 1153
      POLBc_epsilon; DNA polymerase type-B epsilon subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. DNA polymerase (Pol) epsilon has been proposed ...
      COG0417
      Location:99 → 1165
      PolB; DNA polymerase elongation subunit (family B) [Replication, recombination and repair]
      pfam08490
      Location:1528 → 1924
      DUF1744; Domain of unknown function (DUF1744)
      cl00013
      Location:125 → 231
      Lyase_I_like; Lyase class I_like superfamily: contains the lyase class I family, histidine ammonia-lyase and phenylalanine ammonia-lyase, which catalyze similar beta-elimination reactions

    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_086030.1 Reference GRCr8

      Range
      52005155..52053761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063271396.1 → XP_063127466.1  DNA polymerase epsilon catalytic subunit A isoform X3

    2. XM_039089516.2 → XP_038945444.1  DNA polymerase epsilon catalytic subunit A isoform X1

      Conserved Domains (3) summary
      cd05779
      Location:268 → 471
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:531 → 1153
      POLBc_epsilon; DNA polymerase type-B epsilon subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. DNA polymerase (Pol) epsilon has been proposed ...
      pfam08490
      Location:1525 → 1792
      DUF1744; Domain of unknown function (DUF1744)

    3. XM_063271395.1 → XP_063127465.1  DNA polymerase epsilon catalytic subunit A isoform X2

    4. XM_039089517.2 → XP_038945445.1  DNA polymerase epsilon catalytic subunit A isoform X4

      Conserved Domains (3) summary
      cd05779
      Location:268 → 471
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:531 → 1153
      POLBc_epsilon; DNA polymerase type-B epsilon subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. DNA polymerase (Pol) epsilon has been proposed ...
      pfam08490
      Location:1525 → 1723
      DUF1744; Domain of unknown function (DUF1744)

    RNA

    1. XR_005491633.2 RNA Sequence

    2. XR_005491635.2 RNA Sequence

    3. XR_005491634.2 RNA Sequence

    4. XR_010056397.1 RNA Sequence

    5. XR_005491637.2 RNA Sequence

    6. XR_005491639.2 RNA Sequence

    7. XR_010056398.1 RNA Sequence

    8. XR_005491638.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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