Format

Send to:

Choose Destination
    • Showing Current items.

    POLE DNA polymerase epsilon, catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 5426, updated on 8-Jul-2021

    Summary

    Official Symbol
    POLEprovided by HGNC
    Official Full Name
    DNA polymerase epsilon, catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9177
    See related
    Ensembl:ENSG00000177084 MIM:174762
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FILS; POLE1; CRCS12; IMAGEI
    Summary
    This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
    Expression
    Broad expression in bone marrow (RPKM 12.9), testis (RPKM 10.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POLE in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (132623758..132687519, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133200348..133263928, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene leucine rich colipase like 1 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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-12-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-12-16)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of polymerase (DNA directed), epsilon (POLE) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme, which includes DNA polymerase epsilon, during Tat-mediated transactivation of the HIV-1 LTR PubMed
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with polymerase (DNA directed), epsilon 1 (POLE1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21434, DKFZp434F222

    Gene Ontology Provided by GOA

    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
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-directed DNA polymerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA 3'-5' exodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA replication proofreading IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA synthesis involved in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in base-excision repair, gap-filling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in base-excision repair, gap-filling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leading strand elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleotide-excision repair, DNA gap filling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nucleotide-excision repair, DNA gap filling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of epsilon DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of epsilon DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    DNA polymerase epsilon catalytic subunit A
    Names
    3'-5' exodeoxyribonuclease
    DNA polymerase II subunit A
    DNA polymerase epsilon catalytic subunit protein
    polymerase (DNA directed), epsilon, catalytic subunit
    polymerase (DNA) epsilon, catalytic subunit
    NP_006222.2
    XP_011533097.1
    XP_011533099.1
    XP_011533101.1
    XP_011533104.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_033840.1 RefSeqGene

      Range
      5001..68763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_789

    mRNA and Protein(s)

    1. NM_006231.4NP_006222.2  DNA polymerase epsilon catalytic subunit A

      See identical proteins and their annotated locations for NP_006222.2

      Status: REVIEWED

      Source sequence(s)
      BC011376, CX782956, L09561
      Consensus CDS
      CCDS9278.1
      UniProtKB/Swiss-Prot
      Q07864
      Related
      ENSP00000322570.5, ENST00000320574.10
      Conserved Domains (4) summary
      cd05779
      Location:268471
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:5311153
      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:991165
      PolB; DNA polymerase elongation subunit (family B) [Replication, recombination and repair]
      pfam08490
      Location:15291925
      DUF1744; Domain of unknown function (DUF1744)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      132623758..132687519 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534802.3XP_011533104.1  DNA polymerase epsilon catalytic subunit A isoform X4

      Conserved Domains (2) summary
      cl10023
      Location:12149
      POLBc; DNA polymerase type-B family catalytic domain. DNA-directed DNA polymerases elongate DNA by adding nucleotide triphosphate (dNTP) residues to the 5'-end of the growing chain of DNA. DNA-directed DNA polymerases are multifunctional with both synthetic ...
      pfam08490
      Location:525921
      DUF1744; Domain of unknown function (DUF1744)
    2. XM_011534795.3XP_011533097.1  DNA polymerase epsilon catalytic subunit A isoform X1

      Conserved Domains (4) summary
      cd05779
      Location:268471
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:5311153
      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:991165
      PolB; DNA polymerase elongation subunit (family B) [Replication, recombination and repair]
      pfam08490
      Location:15291925
      DUF1744; Domain of unknown function (DUF1744)
    3. XM_011534797.3XP_011533099.1  DNA polymerase epsilon catalytic subunit A isoform X2

      Conserved Domains (4) summary
      cd05779
      Location:3164
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:224846
      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 ...
      smart00486
      Location:8563
      POLBc; DNA polymerase type-B family
      pfam08490
      Location:12221618
      DUF1744; Domain of unknown function (DUF1744)
    4. XM_011534799.2XP_011533101.1  DNA polymerase epsilon catalytic subunit A isoform X3

      Conserved Domains (4) summary
      cd05779
      Location:268471
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:5311153
      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:991165
      PolB; DNA polymerase elongation subunit (family B) [Replication, recombination and repair]
      pfam08490
      Location:15291793
      DUF1744; Domain of unknown function (DUF1744)

    RNA

    1. XR_002957339.1 RNA Sequence

      Related
      ENST00000672742.1
    2. XR_002957338.1 RNA Sequence

    3. XR_941395.2 RNA Sequence

    Support Center