Human Gene POLE (uc009zyu.1)
  Description: Homo sapiens polymerase (DNA directed), epsilon, catalytic subunit (POLE), mRNA.
RefSeq Summary (NM_006231): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr12:133,219,810-133,263,945 Size: 44,136 Total Exon Count: 34 Strand: -
Coding Region
   Position: hg19 chr12:133,219,810-133,263,901 Size: 44,092 Coding Exon Count: 34 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:133,219,810-133,263,945)mRNA (may differ from genome)Protein (1490 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F5H1D6_HUMAN
DESCRIPTION: RecName: Full=DNA polymerase; EC=2.7.7.7;
CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
SIMILARITY: Belongs to the DNA polymerase type-B family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): POLE
CDC HuGE Published Literature: POLE

-  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 -9.3044-0.211 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
PF10108 - Predicted 3'-5' exonuclease related to the exonuclease domain of PolB
PF13482 - RNase_H superfamily

SCOP Domains:
53098 - Ribonuclease H-like
56672 - DNA/RNA polymerases

ModBase Predicted Comparative 3D Structure on F5H1D6
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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0008270 zinc ion binding

Biological Process:
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0071897 DNA biosynthetic process

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


-  Descriptions from all associated GenBank mRNAs
  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).
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.
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.
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.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00240 - Pyrimidine metabolism
hsa01100 - Metabolic pathways
hsa03030 - DNA replication
hsa03410 - Base excision repair
hsa03420 - Nucleotide excision repair

-  Other Names for This Gene
  Alternate Gene Symbols: F5H1D6, F5H1D6_HUMAN, NM_006231, NP_006222, S60080
UCSC ID: uc009zyu.1
RefSeq Accession: NM_006231
Protein: F5H1D6

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: S60080.1
exon count: 34CDS single in 3' UTR: no RNA size: 6794
ORF size: 4470CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 6691.00frame shift in genome: no % Coverage: 65.87
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.