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

Gene ID: 5426, updated on 27-Jun-2020

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

Genomic context

See POLE in Genome Data Viewer
Location:
12q24.33
Exon count:
51
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (132623758..132687519, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133200344..133264050, 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
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
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 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA 3'-5' exodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication initiation TAS
Traceable Author Statement
more info
 
DNA replication proofreading IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA synthesis involved in DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
base-excision repair, gap-filling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
base-excision repair, gap-filling IDA
Inferred from Direct Assay
more info
PubMed 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
leading strand elongation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair, DNA gap filling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide-excision repair, DNA gap filling IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
epsilon DNA polymerase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epsilon DNA polymerase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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.

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

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