Human Gene POLE (ENST00000320574.10_8) from GENCODE V47lift37
  Description: DNA polymerase epsilon, catalytic subunit (from RefSeq NM_006231.4)
Gencode Transcript: ENST00000320574.10_8
Gencode Gene: ENSG00000177084.19_18
Transcript (Including UTRs)
   Position: hg19 chr12:133,200,348-133,263,928 Size: 63,581 Total Exon Count: 49 Strand: -
Coding Region
   Position: hg19 chr12:133,201,283-133,263,901 Size: 62,619 Coding Exon Count: 49 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:133,200,348-133,263,928)mRNA (may differ from genome)Protein (2286 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPOE1_HUMAN
DESCRIPTION: RecName: Full=DNA polymerase epsilon catalytic subunit A; EC=2.7.7.7; AltName: Full=DNA polymerase II subunit A;
FUNCTION: Participates in DNA repair and in chromosomal DNA replication.
CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
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.
SUBCELLULAR LOCATION: Nucleus.
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).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the DNA polymerase type-B family.
SIMILARITY: Contains 1 CysA-type zinc finger.
SEQUENCE CAUTION: Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Sequence=AAA15448.1; Type=Miscellaneous discrepancy;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pole/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POLE
Diseases sorted by gene-association score: fils syndrome* (1368), colorectal cancer 12* (1315), polymerase proofreading-related adenomatous polyposis* (350), colorectal cancer susceptibility 12* (100), endometrioid ovary carcinoma (11), hereditary colorectal cancer (7), lynch syndrome (6), familial colorectal cancer (5), ovary adenocarcinoma (5), colorectal cancer (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.26 RPKM in Brain - Cerebellum
Total median expression: 256.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.3027-0.196 Picture PostScript Text
3' UTR -376.90935-0.403 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
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

Pfam Domains:
PF00136 - DNA polymerase family B
PF03104 - DNA polymerase family B, exonuclease domain
PF08490 - Domain of unknown function (DUF1744)
PF10108 - Predicted 3'-5' exonuclease related to the exonuclease domain of PolB
PF13482 - RNase_H superfamily

SCOP Domains:
51445 - (Trans)glycosidases
53098 - Ribonuclease H-like
56491 - A heparin-binding domain
56672 - DNA/RNA polymerases

ModBase Predicted Comparative 3D Structure on Q07864
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0008310 single-stranded DNA 3'-5' exodeoxyribonuclease activity
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0000731 DNA synthesis involved in DNA repair
GO:0006260 DNA replication
GO:0006272 leading strand elongation
GO:0006281 DNA repair
GO:0006287 base-excision repair, gap-filling
GO:0006297 nucleotide-excision repair, DNA gap filling
GO:0006974 cellular response to DNA damage stimulus
GO:0045004 DNA replication proofreading
GO:0048568 embryonic organ development
GO:0071897 DNA biosynthetic process
GO:0090305 nucleic acid phosphodiester bond hydrolysis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0008622 epsilon DNA polymerase complex


-  Descriptions from all associated GenBank mRNAs
  AK093003 - Homo sapiens cDNA FLJ35684 fis, clone SPLEN2019169, highly similar to DNA polymerase epsilon, catalytic subunit A (EC 2.7.7.7).
AF128544 - Homo sapiens DNA polymerase epsilon catalytic subunit (POLE1) gene, 3' UTR.
AK128248 - Homo sapiens cDNA FLJ46383 fis, clone THYMU2020560, moderately similar to DNA polymerase epsilon, catalytic subunit A (EC 2.7.7.7).
AL080203 - Homo sapiens mRNA; cDNA DKFZp434F222 (from clone DKFZp434F222).
BC011376 - Homo sapiens polymerase (DNA directed), epsilon, mRNA (cDNA clone IMAGE:3871436), containing frame-shift errors.
AK025087 - Homo sapiens cDNA: FLJ21434 fis, clone COL04242.
BC007599 - Homo sapiens, clone IMAGE:3347229, mRNA, partial cds.
BC087613 - Homo sapiens polymerase (DNA directed), epsilon, mRNA (cDNA clone IMAGE:4591469), partial cds.
BX647647 - Homo sapiens mRNA; cDNA DKFZp451G207 (from clone DKFZp451G207).
BC021559 - Homo sapiens polymerase (DNA directed), epsilon, mRNA (cDNA clone IMAGE:5014786), complete cds.
BC144561 - Homo sapiens cDNA clone IMAGE:9053089.
S60080 - DNA polymerase epsilon catalytic subunit [human, HeLa cells, mRNA, 6794 nt].
L09561 - Homo sapiens DNA polymerase epsilon, catalytic polypeptide mRNA, complete cds.
KJ901648 - Synthetic construct Homo sapiens clone ccsbBroadEn_11042 POLE gene, encodes complete protein.
U49356 - Human DNA polymerase epsilon catalytic subunit mRNA, complete cds.
BC172436 - Synthetic construct Homo sapiens clone IMAGE:100069130, MGC:199141 polymerase (DNA directed), epsilon (POLE) mRNA, encodes complete protein.
CU676920 - Synthetic construct Homo sapiens gateway clone IMAGE:100021963 5' read POLE mRNA.
LF206918 - JP 2014500723-A/14421: Polycomb-Associated Non-Coding RNAs.
LF359317 - JP 2014500723-A/166820: Polycomb-Associated Non-Coding RNAs.
AB209902 - Homo sapiens mRNA for DNA polymerase epsilon catalytic subunit variant protein.
AF128542 - Homo sapiens DNA polymerase epsilon catalytic subunit isoform b (POLE1) mRNA, partial cds.
JD251670 - Sequence 232694 from Patent EP1572962.
MA442495 - JP 2018138019-A/14421: Polycomb-Associated Non-Coding RNAs.
MA594894 - JP 2018138019-A/166820: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q07864 (Reactome details) participates in the following event(s):

R-HSA-68960 DNA polymerase epsilon binds at the origin
R-HSA-68913 The primase component of DNA polymerase:primase synthesizes a 6-10 nucleotide RNA primer at the origin
R-HSA-174425 The primase component of DNA polymerase:primase synthesizes a 6-10 nucleotide RNA primer on the G strand of the telomere
R-HSA-68914 DNA polymerase alpha:primase binds at the origin
R-HSA-5653838 POLD,POLE binds deISGylated PCNA after TLS
R-HSA-5652009 RAD18:UBE2B or RBX1:CUL4:DDB1:DTL monoubiquitinates PCNA
R-HSA-110364 PCNA:POLD,POLE:RPA:RFC and FEN1 bind APEX1
R-HSA-5651992 PCNA-containing replication complex binds damaged dsDNA
R-HSA-5651809 LIG1, APEX1 and PCNA:POLD,POLE:RPA:RFC dissociate from repaired DNA
R-HSA-5653840 POLD,POLE complete replication of damaged DNA after TLS
R-HSA-5690213 DNA polymerases delta, epsilon or kappa bind the GG-NER site
R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site
R-HSA-110368 POLD,POLE-mediated DNA strand displacement synthesis
R-HSA-110371 LIG1 binds APEX1 and PCNA at SSB
R-HSA-110363 FEN1 bound to PCNA and APEX1 cleaves flap ssDNA
R-HSA-5651805 LIG1 bound to APEX1 and PCNA ligates SSB
R-HSA-5652005 RAD18:UBE2B or RBX1:CUL4:DDB1:DTL ubiquitin ligase complex binds PCNA:POLD,POLE:RPA:RFC associated with damaged dsDNA
R-HSA-5693593 D-loop extension by DNA polymerases
R-HSA-5690997 Ligation of newly synthesized repair patch to incised DNA in GG-NER
R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER
R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER
R-HSA-5691001 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in GG-NER
R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER
R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER
R-HSA-68962 Activation of the pre-replicative complex
R-HSA-68952 DNA replication initiation
R-HSA-174430 Telomere C-strand synthesis initiation
R-HSA-5656169 Termination of translesion DNA synthesis
R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex
R-HSA-69002 DNA Replication Pre-Initiation
R-HSA-69206 G1/S Transition
R-HSA-69239 Synthesis of DNA
R-HSA-174417 Telomere C-strand (Lagging Strand) Synthesis
R-HSA-5651801 PCNA-Dependent Long Patch Base Excision Repair
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-6782135 Dual incision in TC-NER
R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
R-HSA-73893 DNA Damage Bypass
R-HSA-68874 M/G1 Transition
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-69242 S Phase
R-HSA-69306 DNA Replication
R-HSA-180786 Extension of Telomeres
R-HSA-110373 Resolution of AP sites via the multiple-nucleotide patch replacement pathway
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER)
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-73894 DNA Repair
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-157579 Telomere Maintenance
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-73933 Resolution of Abasic Sites (AP sites)
R-HSA-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-5696398 Nucleotide Excision Repair
R-HSA-1640170 Cell Cycle
R-HSA-73886 Chromosome Maintenance
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-73884 Base Excision Repair
R-HSA-5693538 Homology Directed Repair
R-HSA-5693532 DNA Double-Strand Break Repair

-  Other Names for This Gene
  Alternate Gene Symbols: DPOE1_HUMAN, ENST00000320574.1, ENST00000320574.2, ENST00000320574.3, ENST00000320574.4, ENST00000320574.5, ENST00000320574.6, ENST00000320574.7, ENST00000320574.8, ENST00000320574.9, NM_006231, POLE , POLE1, Q07864, Q13533, Q86VH9, uc317qwx.1, uc317qwx.2
UCSC ID: ENST00000320574.10_8
RefSeq Accession: NM_006231.4
Protein: Q07864 (aka DPOE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.