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POLE Gene

protein-coding   GIFtS: 71
GCID: GC12M133200

Polymerase (DNA Directed), Epsilon, Catalytic Subunit

(Previous names: polymerase (DNA directed), epsilon)
  See POLE-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polymerase (DNA Directed), Epsilon, Catalytic Subunit1 2     CRCS122 5
POLE12 3 5     FILS2 5
DNA Polymerase Epsilon Catalytic Subunit A1 2     Polymerase (DNA Directed), Epsilon1
DNA Polymerase II Subunit A2 3     EC 2.7.78
EC 2.7.7.73 8     

External Ids:    HGNC: 91771   Entrez Gene: 54262   Ensembl: ENSG000001770847   OMIM: 1747625   UniProtKB: Q078643   

Export aliases for POLE gene to outside databases

Previous GC identifers: GC12U990073 GC12P132569 GC12M132825 GC12M131439 GC12M131810 GC12M131710 GC12M129980


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POLE Gene:
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)

GeneCards Summary for POLE Gene:
POLE (polymerase (DNA directed), epsilon, catalytic subunit) is a protein-coding gene. Diseases associated with POLE include fils syndrome, and colorectal cancer 12. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and chromatin binding.

UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864
Function: Participates in DNA repair and in chromosomal DNA replication

Gene Wiki entry for POLE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_024477.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLE gene promoter:
         Max   Max1   AML1a   ATF-2   Nkx2-5   Evi-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POLE promoter sequence
   Search Chromatin IP Primers for POLE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.3   Ensembl cytogenetic band:  12q24.33   HGNC cytogenetic band: 12q24.3

POLE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLE gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M133200:  view genomic region     (about GC identifiers)

Start:
133,200,348 bp from pter      End:
133,263,951 bp from pter
Size:
63,604 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864 (See protein sequence)
Recommended Name: DNA polymerase epsilon catalytic subunit A  
Size: 2286 amino acids; 261518 Da
Cofactor: Binds 1 4Fe-4S cluster (By similarity)
Subunit: Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE,
POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1
Sequence caution: Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Sequence=AAA15448.1;
Type=Miscellaneous discrepancy;
Secondary accessions: Q13533 Q86VH9

Explore the universe of human proteins at neXtProt for POLE: NX_Q07864

Explore proteomics data for POLE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys431, Lys2110, Lys2124
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLE (Q07864) (see all 16)
     LITNREI  DTDGIWC  VMRKGAR  LAFDIET 


    See POLE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006222.2  
    ENSEMBL proteins: 
     ENSP00000322570   ENSP00000442578   ENSP00000445753   ENSP00000442519   ENSP00000439052  
     ENSP00000439842   ENSP00000443213  
    Reactome Protein details: Q07864

    POLE Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for POLE
    GenScript Custom Purified and Recombinant Proteins Services for POLE
    Novus Biologicals POLE Protein
    Novus Biologicals POLE Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for POLE 

    POLE Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for POLE
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for POLE
    LSBio Antibodies in human, mouse, rat for POLE

    POLE Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for POLE 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POL: DNA polymerases

    5 InterPro protein domains:
     IPR006172 DNA-dir_DNA_pol_B
     IPR006133 DNA-dir_DNA_pol_B_exonuc
     IPR006134 DNA-dir_DNA_pol_B_multi_dom
     IPR013697 DNA_pol_e_suA_C
     IPR012337 RNaseH-like_dom

    Graphical View of Domain Structure for InterPro Entry Q07864

    ProtoNet protein and cluster: Q07864

    2 Blocks protein domains:
    IPB006134 DNA polymerase B domain
    IPB013697 Domain of unknown function DUF1744


    UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864
    Domain: The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is
    necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the
    enzyme
    Domain: The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes (By
    similarity)
    Similarity: Belongs to the DNA polymerase type-B family
    Similarity: Contains 1 CysA-type zinc finger


    Find genes that share domains with POLE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DPOE1_HUMAN, Q07864
    Function: Participates in DNA repair and in chromosomal DNA replication
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Enzyme Numbers (IUBMB): EC 2.7.7.71 2 EC 2.7.72

         Gene Ontology (GO): 7 molecular function terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA16762037
    GO:0003682chromatin binding IDA16762037
    GO:0003887DNA-directed DNA polymerase activity IMP16762037
    GO:0008270zinc ion binding IEA--
    GO:00515394 iron, 4 sulfur cluster binding IEA--
         
    Find genes that share ontologies with POLE           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for POLE:
     Increased S DNA content  S arrest  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pole):
     hematopoietic system  immune system  integument  mortality/aging  tumorigenesis 

    Find genes that share phenotypes with POLE           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POLE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLE

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLE:
    hsa-mir-92a-3p (MIRT048946), hsa-mir-93-5p (MIRT048792), hsa-mir-222-3p (MIRT046796), hsa-mir-324-5p (MIRT043193), hsa-mir-193b-3p (MIRT016490)

    Block miRNA regulation of human, mouse, rat POLE using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate POLE
    SwitchGear 3'UTR luciferase reporter plasmidPOLE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POLE
    Predesigned siRNA for gene silencing in human, mouse, rat POLE

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POLE

    Clone
    Products:
         
    OriGene clones in human, mouse for POLE (see all 6)
    OriGene ORF clones in mouse, rat for POLE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POLE (NM_006231)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLE

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for POLE
    Browse ESI BIO Cell Lines and PureStem Progenitors for POLE 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DPOE1_HUMAN, Q07864: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    chloroplast2
    mitochondrion2
    cytosol1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with POLE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for POLE About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Telomere C-strand (Lagging Strand) Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Mismatch Repair in Eukaryotes0.54
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    Cell cycle Transition and termination of DNA replication0.43
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.00
    Extension of Telomeres0.79
    Gap-filling DNA repair synthesis and ligation in GG-NER0.00
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Nucleotide Excision Repair Pathway0.48
    Nucleotide excision repair0.69
    3E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    G1 to S cell cycle control0.35
    G1/S Transition0.81
    4Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.66
    DNA Replication0.66
    5CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.92
    DNA Replication Pre-Initiation0.81
    DNA Replication0.92
    S Phase0.78
    M/G1 Transition0.81


    Find genes that share SuperPaths with POLE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLE
        Mismatch Repair in Eukaryotes
    DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway
    Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for POLE
        Cell cycle Transition and termination of DNA replication

    3 BioSystems Pathways for POLE
        G1 to S cell cycle control
    DNA Replication
    RB in Cancer

    5 Reactome Pathways for POLE
        Telomere C-strand synthesis initiation
    Repair synthesis for gap-filling by DNA polymerase in TC-NER
    Activation of the pre-replicative complex
    Repair synthesis of patch ~27-30 bases long by DNA polymerase
    DNA replication initiation


    Selected Kegg Pathways  (Kegg details for POLE) (see all 7):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    DNA replication
    Base excision repair

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLE
    Interactions:

        GeneGlobe Interaction Network for POLE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for POLE (Q078642, 3 ENSP000003225704) via UniProtKB, MINT, STRING, and/or I2D (see all 924)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0000731DNA synthesis involved in DNA repair IMP1730053

    Find genes that share ontologies with POLE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for POLE (DPOE1)

    6 HMDB Compounds for POLE    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--

    1 DrugBank Compound for POLE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cladribine2-CdA (see all 5)4291-63-8targetinhibitor19576186



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for POLE gene: 
    NM_006231.3  

    Unigene Cluster for POLE:

    Polymerase (DNA directed), epsilon, catalytic subunit
    Hs.524871  [show with all ESTs]
    Unigene Representative Sequence: BC144561
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000541627 ENST00000320574(uc001uks.1 uc009zyu.1) ENST00000537064(uc001ukr.1 uc010tbq.1)
    ENST00000534922 ENST00000535270 ENST00000544692 ENST00000538196 ENST00000543516
    ENST00000544870 ENST00000441786 ENST00000541213 ENST00000544414 ENST00000416953
    ENST00000434528(uc001ukq.1) ENST00000542362 ENST00000540987 ENST00000539006
    ENST00000536445
    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate POLE
    SwitchGear 3'UTR luciferase reporter plasmidPOLE 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for POLE
    Predesigned siRNA for gene silencing in human, mouse, rat POLE
    Clone
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    OriGene clones in human, mouse for POLE (see all 6)
    OriGene ORF clones in mouse, rat for POLE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POLE (NM_006231)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLE
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for POLE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLE
      QuantiTect SYBR Green Assays in human, mouse, rat POLE
      QuantiFast Probe-based Assays in human, mouse, rat POLE

    Additional mRNA sequence: 

    AF128542.1 AF128544.1 AK025087.1 AK093003.1 AL080203.1 BC007599.1 BC011376.1 BC021559.1 
    BC087613.1 BC144561.1 L09561.1 S60080.1 U49356.1 

    18 DOTS entries:

    DT.445040  DT.100755029  DT.101982981  DT.316471  DT.100755031  DT.92012151  DT.97769357  DT.102831799 
    DT.95144247  DT.97822386  DT.87015676  DT.121172767  DT.91905918  DT.92354048  DT.120704907  DT.121172816 
    DT.91828132  DT.95171522 

    Selected AceView cDNA sequences (see all 206):

    BI909593 AA470641 AA714569 BF115176 BX647647 T98586 BQ224205 AF128542 
    NM_006231 AL704629 BF883728 L09561 BM478237 BM849703 AI624906 BM467737 
    F09552 AI825841 BQ049812 AL043786 BM692718 BM458272 BC021559 BX493014 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLE (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                    -                                                                                         -     -                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                    -                                       
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
    SP1:                                      -                                               -                                                     -               
    SP2:                                                                                      -                                                     -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                              -                                             

    ExUns: 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50 ^ 51a · 51b · 51c
    SP1:                          -     -                             -           -                           
    SP2:                          -     -                             -           -                           
    SP3:                          -     -                             -           -                           
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for POLE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    POLE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAATGGG
    POLE Expression
    About this image


    POLE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Telencephalon
    POLE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524871
        Custom PCR Arrays for POLE
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    OriGene qSTAR qPCR primer pairs in human, mouse for POLE
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLE gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pole1 , 5 polymerase (DNA directed), epsilon1, 5 86.13(n)1
    91.17(a)1
      5 (53.45 cM)5
    189731  NM_011132.21  NP_035262.21 
     1102863065 
    chicken
    (Gallus gallus)
    Aves POLE1 polymerase (DNA directed), epsilon, catalytic subunit 79.04(n)
    84.17(a)
      416997  XM_004934425.1  XP_004934482.1 
    lizard
    (Anolis carolinensis)
    Reptilia POLE6
    polymerase (DNA directed), epsilon, catalytic subu...
    81(a)
    1 ↔ 1
    GL343417.1(432562-459794)
    African clawed frog
    (Xenopus laevis)
    Amphibia pole-A2 polymerase (DNA directed), epsilon 75.54(n)    AF202988.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pole1 polymerase (DNA directed), epsilon 73.72(n)
    80.6(a)
      553405  NM_001128523.1  NP_001121995.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNApol-&egr;3
    DNApol-epsilon1
    DNA dependent DNA replication epsilon
    DNA polymerase3
    DNA polymerase epsilon1
    40(a)3
    60.35(n)1
    57.55(a)1
      94E133
    427581  NM_079738.31  NP_524462.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F33H2.51 , 3 DNA polymerase family B (3 domains)3
    F33H2.51
    43(a)3
    51.63(n)1
    47.43(a)1
      I(15013741-15021915)3
    1733681  NM_061215.31  NP_493616.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POL2(YNL262W)4
    POL21
    Catalytic subunit of DNA polymerase (II) epsilon, a more4
    POL21
    48.91(n)1
    45.22(a)1
      14(148212-154880)4
    8554591, 4  NP_014137.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TIL11 TIL1 50.54(n)
    45.92(a)
      837346  NM_100699.5  NP_172303.5 
    rice
    (Oryza sativa)
    Liliopsida Os02g05119001 Os02g0511900 50.76(n)
    46.54(a)
      4329458  NM_001053474.2  NP_001046939.2 


    ENSEMBL Gene Tree for POLE (if available)
    TreeFam Gene Tree for POLE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLE gene
    2 SIMAP similar genes for POLE using alignment to 9 protein entries:     DPOE1_HUMAN (see all proteins):
    POLE1    DKFZp434F222

    Find genes that share paralogs with POLE           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for POLE (see all 2012)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693444
    Colorectal cancer 12 (CRCS12)4--see VAR_0693442 L V mis40--------
    rs1915795241,2
    --133057860(+) GGCTGC/TGTAAA 1 -- us2k10--------
    rs1817104471,2
    --133057906(+) GCAGGA/GCAAAG 1 -- us2k10--------
    rs1884172351,2
    --133199879(+) AAATAC/TCCAGC 1 -- int10--------
    rs1476213381,2
    --133199976(+) ACTCAA/GATGCC 1 -- int10--------
    rs57450971,2
    C,F--133199982(-) GCTGCG/AGGCAT 1 -- int17Minor allele frequency- A:0.03NS NA WA 438
    rs1422394581,2
    --133199992(+) CTAGCA/CTCACA 1 -- int10--------
    rs57450961,2
    C,F--133200016(-) GGGCGC/TCAGTC 1 -- int12Minor allele frequency- T:0.03NS CSA 176
    rs1126113461,2
    C,F--133200018(+) CTGGCG/ACCCAC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs57450951,2
    C,F--133200032(-) CGCCCG/AGTGCA 1 -- int13Minor allele frequency- A:0.05NS NA EA 414

    HapMap Linkage Disequilibrium report for POLE (133200348 - 133263951 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for POLE (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747032CNV Deletion23290073
    esv1667239CNV Deletion17803354
    esv2747031CNV Deletion23290073
    esv2422284CNV Deletion17116639
    esv2665414CNV Deletion23128226
    nsv512304CNV Loss21212237
    nsv899826CNV Loss21882294
    dgv1534n71CNV Loss21882294
    nsv820101CNV Loss19587683
    dgv1543n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): POLE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLE
    DNA2.0 Custom Variant and Variant Library Synthesis for POLE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 174762   
    OMIM disorders: 615083  615139  
    UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864
  • Colorectal cancer 12 (CRCS12) [MIM:615083]: A complex disease characterized by malignant lesions arising
    from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated
    with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the
    colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is
    characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with
    a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic
    features of the tumors are unremarkable. Note=Disease susceptibility is associated with variations affecting the
    gene represented in this entry
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome
    characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and
    immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and
    results in variable short stature in adulthood. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for POLE:    
    About MalaCards
    fils syndrome    colorectal cancer 12    short stature    colorectal cancer

    9 diseases from the University of Copenhagen DISEASES database for POLE:
    Hepatitis B     Herpes simplex     Hepatitis     Xeroderma pigmentosum
    Cancer     Acquired immunodeficiency syndrome     Retinitis     Vaccinia
    Herpes zoster

    Find genes that share disorders with POLE           About GenesLikeMe

    Genetic Association Database (GAD): POLE
    Human Genome Epidemiology (HuGE) Navigator: POLE (24 documents)

    Export disorders for POLE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POLE gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with POLE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. (PubMed id 8486689)1, 2, 9 Kesti T.... Syvaeoja J.E. (J. Biol. Chem. 1993)
    2. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. (PubMed id 23263490)1, 2 Palles C.... Tomlinson I. (Nat. Genet. 2013)
    3. Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome). (PubMed id 23230001)1, 2 Pachlopnik Schmid J....de Saint Basile G. (J. Exp. Med. 2012)
    4. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    5. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    6. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (Biol. Blood Marrow Transplant. 2010)
    7. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    8. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (Leukemia 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5426 HGNC: 9177 AceView: POLE Ensembl:ENSG00000177084 euGenes: HUgn5426
    ECgene: POLE Kegg: 5426 H-InvDB: POLE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for POLE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POLE Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pole/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POLE gene:
    Search GeneIP for patents involving POLE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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