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

    Gene ID: 5426, updated on 23-May-2012

    Summary

    Official Symbol
    POLEprovided by HGNC
    Official Full Name
    polymerase (DNA directed), epsilon, catalytic subunitprovided by HGNC
    Primary source
    HGNC:9177
    See related
    Ensembl:ENSG00000177084; HPRD:07177; MIM:174762; Vega:OTTHUMG00000168045
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POLE1; FLJ21434; DKFZp434F222

    Genomic context

    Location :
    12q24.3
    Sequence :
    Chromosome: 12; NC_000012.11 (133200348..133263945, complement)
    See POLE in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507055 Neighboring gene purinergic receptor P2X, ligand-gated ion channel, 2 Neighboring gene peroxisomal membrane protein 2, 22kDa Neighboring gene phosphoglycerate mutase family member 5

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 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

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_006222.1 NP_002583.1 PCNA    BIND  PubMed POLE is a PCNA-binding protein 
    Q07864 Q00987 MDM2    HPRD  PubMed  
    Q07864 P12004 PCNA    HPRD  PubMed  
    Q07864 P09884 POLA1    HPRD  PubMed  
    Q07864 Q9NR33 POLE4    HPRD  PubMed  
    Q07864 O75943 RAD17    HPRD  PubMed  
    Q07864 P49842 STK19    HPRD  PubMed  
    Q07864 Q92547 TOPBP1    HPRD  PubMed  
    Q07864 P13010 XRCC5    HPRD  PubMed  
    BioGRID:111422 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111422 BioGRID:111142 PCNA    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111422 BioGRID:111821 RAD17    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111422 BioGRID:114383 STK19    BioGRID  PubMed Two-hybrid 
    BioGRID:111422 BioGRID:116256 TOPBP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111422 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    • Homologs of the POLE gene: The POLE gene is conserved in chimpanzee, dog, cow, mouse, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse)

    Pathways from BioSystems

    • Activation of the pre-replicative complex, organism-specific biosystem (from REACTOME)
      Activation of the pre-replicative complex, organism-specific biosystemIn S. cerevisiae, two ORC subunits, Orc1 and Orc5, both bind ATP, and Orc1 in addition has ATPase activity. Both ATP binding and ATP hydrolysis appear to be essential functions in vivo. ATP binding b...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, conserved biosystem (from KEGG)
      Base excision repair, conserved biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
    • DNA Replication, organism-specific biosystem (from WikiPathways)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA Replication Pre-Initiation, organism-specific biosystem (from REACTOME)
      DNA Replication Pre-Initiation, organism-specific biosystemAlthough, DNA replication occurs in the S phase of the cell cycle, the formation of the DNA replication pre-initiation complex begins during G1 phase.
    • DNA polymerase epsilon complex, organism-specific biosystem (from KEGG)
      DNA polymerase epsilon complex, organism-specific biosystemStructural complex; Genetic information processing; DNA polymerase
    • DNA replication, organism-specific biosystem (from KEGG)
      DNA replication, organism-specific biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA replication, conserved biosystem (from KEGG)
      DNA replication, conserved biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA replication initiation, organism-specific biosystem (from REACTOME)
      DNA replication initiation, organism-specific biosystemDNA polymerases are not capable of de novo DNA synthesis and require synthesis of a primer, usually by a DNA-dependent RNA polymerase (primase) to begin DNA synthesis. In eukaryotic cells, the primer...
    • Extension of Telomeres, organism-specific biosystem (from REACTOME)
      Extension of Telomeres, organism-specific biosystemTelomerase acts as reverse transcriptase in the elongation of telomeres (Smogorzewska and de Lange 2004).
    • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
      G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
    • G1/S Transition, organism-specific biosystem (from REACTOME)
      G1/S Transition, organism-specific biosystemCyclin E - Cdk2 complexes control the transition from G1 into S-phase. In this case, the binding of p21Cip1/Waf1 or p27kip1 is inhibitory. Important substrates for Cyclin E - Cdk2 complexes include p...
    • Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystemThe resultant gap is filled by polymerase activities of Pol delta and Pol epsilon. Accessory replication protein complexes of RPA, PCNA and RFC play a role in this synthesis. DNA Ligase 1 seals the ...
    • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemPolymerization is carried out by DNA polymerases, delta and epsilon.
    • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • M/G1 Transition, organism-specific biosystem (from REACTOME)
      M/G1 Transition, organism-specific biosystemFinally, progression out of mitosis and division of the cell into two daughters (cytokinesis) requires the inactivation of Cyclin B - Cdc2 by ubiquitin-dependent proteolysis of Cyclin A and B, which ...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
      Mitotic G1-G1/S phases, organism-specific biosystem
      Mitotic G1-G1/S phases
    • Mitotic M-M/G1 phases, organism-specific biosystem (from REACTOME)
      Mitotic M-M/G1 phases, organism-specific biosystem
      Mitotic M-M/G1 phases
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Purine metabolism, organism-specific biosystem (from KEGG)
      Purine metabolism, organism-specific biosystem
      Purine metabolism
    • Purine metabolism, conserved biosystem (from KEGG)
      Purine metabolism, conserved biosystem
      Purine metabolism
    • Pyrimidine metabolism, organism-specific biosystem (from KEGG)
      Pyrimidine metabolism, organism-specific biosystem
      Pyrimidine metabolism
    • Pyrimidine metabolism, conserved biosystem (from KEGG)
      Pyrimidine metabolism, conserved biosystem
      Pyrimidine metabolism
    • Repair synthesis for gap-filling by DNA polymerase in TC-NER, organism-specific biosystem (from REACTOME)
      Repair synthesis for gap-filling by DNA polymerase in TC-NER, organism-specific biosystem
      Repair synthesis for gap-filling by DNA polymerase in TC-NER
    • Repair synthesis of patch ~27-30 bases long by DNA polymerase, organism-specific biosystem (from REACTOME)
      Repair synthesis of patch ~27-30 bases long by DNA polymerase, organism-specific biosystemRepair synthesis is carried out by the DNA dependent DNA polymerases, delta and epsilon.
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continu...
    • Synthesis of DNA, organism-specific biosystem (from REACTOME)
      Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
    • Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystem (from REACTOME)
      Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
    • Telomere C-strand synthesis initiation, organism-specific biosystem (from REACTOME)
      Telomere C-strand synthesis initiation, organism-specific biosystemDNA polymerases are not capable of de novo DNA synthesis and require synthesis of a primer, usually by a DNA-dependent RNA polymerase (primase) to begin DNA synthesis. In eukaryotic cells, the primer...
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
    • Transcription-coupled NER (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-coupled NER (TC-NER), organism-specific biosystemThe preferential repair of UV-induced damage in transcribed strands of active genes is known as Transcription-coupled NER (TC-NER). Impairment of the ability for TC-NER results in the onset of a sev...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-directed DNA polymerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
     
    DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA synthesis involved in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA-dependent DNA replication initiation TAS
    Traceable Author Statement
    more info
     
    G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    M/G1 transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    S phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    base-excision repair, gap-filling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA gap filling IMP
    Inferred from Mutant Phenotype
    more info
     
    nucleotide-excision repair, DNA gap filling TAS
    Traceable Author Statement
    more info
     
    telomere maintenance TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via recombination TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via semi-conservative replication TAS
    Traceable Author Statement
    more info
     
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA polymerase epsilon catalytic subunit A
    Names
    DNA polymerase epsilon catalytic subunit A
    DNA polymerase II subunit A
    polymerase (DNA directed), epsilon
    NP_006222.2

    NCBI Reference Sequences (RefSeq)

    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_006231.2NP_006222.2  DNA polymerase epsilon catalytic subunit A

      Status: VALIDATED

      Source sequence(s)
      BC011376, L09561, S60080
      Consensus CDS
      CCDS9278.1
      UniProtKB/Swiss-Prot
      Q07864
      Related
      ENSP00000322570, OTTHUMP00000237674, ENST00000320574, OTTHUMT00000397689
      Conserved Domains (3) summary
      cd05779
      Location:268471
      Blast Score: 1193
      DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase
      cd05535
      Location:5311153
      Blast Score: 3393
      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:15251925
      Blast Score: 1513
      DUF1744; Domain of unknown function (DUF1744)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      133200348..133263945, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      129980040..130042942, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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