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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

POLE Gene

protein-coding GIFtS: 67
GCID: GC12M133200

polymerase (DNA directed), epsilon, catalytic subunit

(Previous names: polymerase (DNA directed), epsilon )

Explore 25 diseases affiliated with
POLE via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Polymerase (DNA Directed), Epsilon, Catalytic Subunit¹ ²		Polymerase (DNA Directed), Epsilon¹
POLE1¹ ² ³		CRCS12²
DNA Polymerase II Subunit A² ³		DNA Polymerase Epsilon Catalytic Subunit A²
EC 2.7.7.7³ ⁸		EC 2.7.7⁸

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864

Function: Participates in DNA repair and in chromosomal DNA replication

Gene Wiki entry for POLE

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_024477.14

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for POLE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:	133,200,345 bp from pter	End:	133,413,387 bp from pter
Size:	213,043 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: Nucleus

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q07864

4/16 DME Specific Peptides for POLE (Q07864) (see all 16)

LITNREI

DTDGIWC

VMRKGAR

LAFDIET

POLE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006222.2

ENSEMBL proteins:

ENSP00000415058 ENSP00000322570 ENSP00000442578 ENSP00000445753 ENSP00000442519

ENSP00000439052 ENSP00000439842 ENSP00000443213 ENSP00000406383

Reactome Protein details: Q07864
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	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 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 ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	16762037
GO:0005654	nucleoplasm	TAS	--
GO:0008622	epsilon DNA polymerase complex	IDA	10801849

POLE for ontologies About GeneDecksing

POLE Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of POLE
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for POLE
	GenScript Custom Superior Antibodies Services for POLE
	Novus Biologicals POLE Antibodies
	Abcam antibodies for POLE
	Browse Antibodies at Uscn
	ThermoFisher Antibodies for POLE

Assay Products for POLE:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for POLE
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

POLE for domains About GeneDecksing

5 InterPro domains/families:

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 families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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

miRNA Products:		OriGene 3'-UTR Clone: POLE Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLE
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate POLE
		SwitchGear 3'UTR luciferase reporter plasmid: POLE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLE (see all 7) OriGene shRNA RFP: POLE OriGene siRNA: POLE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLE

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for POLE

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POLE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POLE (see all 2) 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 Products:		GenScript Custom overexpressing Cell Line Services for POLE
		Search LifeMap BioReagents cell lines for POLE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IDA	16762037
GO:0003682	chromatin binding	IDA	16762037
GO:0003887	DNA-directed DNA polymerase activity	IMP	16762037

POLE for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for POLE:

Increased S DNA content

S arrest

Synthetic lethal with Ras

Animal Models:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pole):

hematopoietic system

immune system

integument

mortality/aging

tumorigenesis

POLE for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lagging Strand Synthesis

8/10 pathways (see all 10)
Telomere C-strand (Lagging Strand) Synthesis	0.91	Repair synthesis for gap-filling by DNA polymerase in TC-NER	0.59
Extension of Telomeres	0.83	DNA replication	0.56
Gap-filling DNA repair synthesis and ligation in TC-NER	0.64	Mismatch Repair in Eukaryotes	0.33
Gap-filling DNA repair synthesis and ligation in GG-NER	0.64	DNA replication initiation	0.18

Ubiquitinated Orc1 is degraded by the proteasome

DNA Replication Pre-Initiation	0.62	DNA Replication	0.49
M/G1 Transition	0.62	S Phase	0.40
Synthesis of DNA	0.51

Global Genomic NER (GG-NER)

	Global Genomic NER (GG-NER)	1.00			Nucleotide Excision Repair Pathway	0.49
	Nucleotide excision repair	0.70

Nucleotide Excision Repair

	Nucleotide Excision Repair	1.00			DNA Repair	0.46
	Transcription-coupled NER (TC-NER)	0.90

G1/S Transition

G1/S Transition

1.00

Mitotic G1-G1/S phases

0.80

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for POLE

Cell cycle Transition and termination of DNA replacation

4 Downloadable PowerPoint Slides of QIAGEN 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

2 BioSystems Pathways for POLE

	G1 to S cell cycle control
	DNA Replication

5/25 Reactome Pathways for POLE (see all 25)

	Extension of Telomeres
	Telomere Maintenance
	DNA Repair
	Mitotic G1-G1/S phases
	Repair synthesis for gap-filling by DNA polymerase in TC-NER

5/6 Kegg Pathways (Kegg details for POLE) (see all 6):

	Purine metabolism
	Pyrimidine metabolism
	Metabolic pathways
	DNA replication
	Base excision repair

POLE for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for POLE

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

5/716 Interacting proteins for POLE (Q07864^{2, 3} ENSP00000322570⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 716)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=2
HIST1H4B	P62805³	I2D: score=2
HIST1H4C	P62805³	I2D: score=2
HIST1H4D	P62805³	I2D: score=2
HIST1H4E	P62805³	I2D: score=2

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000082	G1/S transition of mitotic cell cycle	TAS	--
GO:0000084	S phase of mitotic cell cycle	TAS	--
GO:0000216	M/G1 transition of mitotic cell cycle	TAS	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0000722	telomere maintenance via recombination	TAS	--

POLE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for POLE

6 HMDB Compounds for POLE About this table

Compound	Synonyms	CAS #	PubMed Ids
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--
Thymidine 5'-triphosphate	2'-Deoxythymidine 5'-triphosphate (see all 13)	365-08-2	--
dATP	2'-Deoxy-5'-ATP (see all 8)	1927-31-7	--
dCTP	2'-deoxycytidine-5'-triphosphate (see all 4)	2056-98-6	--
dGTP	2'-Deoxyguanosine 5'-triphosphate (see all 4)	2564-35-4	--

1 DrugBank Compound for POLE About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cladribine	2-CdA (see all 5)	4291-63-8	target	inhibitor	19576186

Search CenterWatch for drugs/clinical trials and news about POLE / DPOE1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for POLE gene:

NM_006231.2

Unigene Cluster for POLE:

Polymerase (DNA directed), epsilon, catalytic subunit

Hs.524871 [show with all ESTs]

Unigene Representative Sequence: BC144561

18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):

ENST00000434528(uc001ukq.1) ENST00000541627 ENST00000320574(uc001uks.1 uc009zyu.1)

ENST00000537064(uc001ukr.1 uc010tbq.1) ENST00000534922 ENST00000535270

ENST00000544692 ENST00000538196 ENST00000543516 ENST00000544870 ENST00000441786

ENST00000541213 ENST00000544414 ENST00000416953 ENST00000542362 ENST00000540987

ENST00000539006 ENST00000536445

miRNA Products:		OriGene 3'-UTR Clone: POLE Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLE
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate POLE
		SwitchGear 3'UTR luciferase reporter plasmid: POLE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLE (see all 7) OriGene shRNA RFP: POLE OriGene siRNA: POLE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLE

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POLE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POLE (see all 2) 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 Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POLE Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat POLE
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLE

Additional cDNA 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

17 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.91828132

DT.95171522

24/206 AceView cDNA sequences (see all 206):

AI564263 BX493014 AI631774 AI274732 AF128542 R67657 AL046781 BC021559

BU172196 AA768922 BM458272 BM692718 AL043786 BI013194 BQ049812 BU521341

BX644983 BU183348 BQ222760 BQ224205 AA227757 BM477002 BC007599 BM683632

GeneLoc Exon Structure

5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

POLE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGAAATGGG

About this image
See POLE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POLE

SOURCE GeneReport for Unigene cluster: Hs.524871

SABiosciences Custom PCR Arrays for POLE

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POLE Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat POLE
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLE

In Situ
Assay Products:

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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLE gene from 10/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pole^{1 , 5}	polymerase (DNA directed), epsilon^{1, 5}	86(n)¹ 91(a)¹		5 (53.45 cM)⁵ 18973¹ NM_011132.2¹ NP_035262.2¹ 110286306⁵
chicken (Gallus gallus)	Aves	POLE¹	polymerase (DNA directed), epsilon	79(n) 84.17(a)		416997 XM_001233984.2 XP_001233985.2
lizard (Anolis carolinensis)	Reptilia	POLE⁶	--	81(a)	1 ↔ 1	GL343417.1(433022-459635)
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) 80.55(a)		553405 NM_001128523.1 NP_001121995.1
fruit fly (Drosophila melanogaster)	Insecta	DNApol-&egr;³ DNApol-epsilon¹	DNA dependent DNA replication epsilon DNA polymerase less³ DNA polymerase epsilon¹	40(a)³ 60.8(n)¹ 58.13(a)¹		94E13³ 42758¹ NM_079738.2¹ NP_524462.2¹
worm (Caenorhabditis elegans)	Secernentea	F33H2.5^{1 , 3}	DNA polymerase family B (3 domains)³ Protein F33H2.5¹	43(a)³ 51.47(n)¹ 47.2(a)¹		I(15013741-15021915)³ 173368¹ NM_061215.2¹ NP_493616.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	POL2(YNL262W)⁴ POL2¹	Catalytic subunit of DNA polymerase (II) epsilon, a chromosomal DNA replication polymerase that exhibits processivity and proofreading exonuclease activity; also involved in DNA synthesis during DNA repair; interacts extensively with Mrc1p less⁴ Pol2p¹	48.7(n)¹ 45.17(a)¹		14(148212-154880)⁴ 855459^{1, 4} NP_014137.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	TIL1¹	DNA polymerase epsilon subunit 1	50.43(n) 46.06(a)		837346 NM_100699.5 NP_172303.5
rice (Oryza sativa)	Liliopsida	Os02g0511900¹	hypothetical protein	50.69(n) 46.16(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)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs5745002^1,2	C,F,	--	129990912(-)	`GGGGGG/-TGGGA`	1	--	int¹		3		NS NA	176
rs199762410^1,2	C	--	129992691(+)	`TTTAAA/GGNNNN`	1	--	int¹		0	--	--	--	--
rs73485103^1,2	C,	--	130041520(+)	`GCAGGC/TAAACA`	1	--	us2k¹		1		WA	2
rs115448456^1,2	C,F,	--	130041610(+)	`AAGGTA/CAAAGC`	1	--	us2k¹		1		WA	118
rs188417235^1,2		--	133199879(+)	`AAATAC/TCCAGC`	1	--	int¹		0	--	--	--	--
rs147621338^1,2		--	133199976(+)	`ACTCAA/GATGCC`	1	--	int¹		0	--	--	--	--
rs5745097^1,2	C,F,	--	133199982(-)	`GCTGCG/AGGCAT`	1	--	int¹		7		NS NA WA	438
rs142239458^1,2		--	133199992(+)	`CTAGCA/CTCACA`	1	--	int¹		0	--	--	--	--
rs5745096^1,2	C,F,	--	133200016(-)	`GGGCGC/TCAGTC`	1	--	int¹		2		NS CSA	176
rs112611346^1,2	C,	--	133200018(+)	`CTGGCG/ACCCAC`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for POLE (133200345 - 133413387 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for POLE
1 Indel: 58558

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
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POLE for disorders           About GeneDecksing

OMIM gene information: 174762    OMIM disorders: --

20/25 diseases for POLE (see all 25):    About MalaCards

chronic progressive external ophthalmoplegia human immunodeficiency virus infectious disease graft versus host disease skin tag

xeroderma pigmentosum color blindness herpes zoster alpers syndrome

chronic lymphocytic leukemia lymphocytic leukemia ophthalmoplegia multiple sclerosis

blindness hepatitis b vaccinia encephalitis

hepatocellular carcinoma immunodeficiency colorectal cancer leukemia

2 diseases from the University of Copenhagen DISEASES database for POLE:

Tinea corporis Color blindness

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 9 sources (see all 74):
(articles sorted by number of sources associating them with POLE)

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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. (1993)
The human checkpoint Rad protein Rad17 is chromatin-associated throughout the cell cycle, localizes to DNA replication sites, and interacts with DNA polymerase epsilon. (PubMed id 14500819)^{1, 2} Post S.M.... Lee E.Y.-H.P. (2003)
BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. (PubMed id 11395493)^{1, 2} Maekiniemi M.... Syvaeoja J.E. (2001)
Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon. (PubMed id 10801849)^{1, 2} Li Y.... Linn S. (2000)
Localization of the gene for DNA polymerase epsilon (POLE) to human chromosome 12q24.3 and rat chromosome 12 by somatic cell hybrid panels and fluorescence in situ hybridization. (PubMed id 8020968)^{1, 3} Szpirer J....Szpirer C. (1994)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Segregation of replicative DNA polymerases during S ph ase: DNA polymerase e, but not DNA polymerases a/d, are associated with lamins t hroughout S phase in human cells. (PubMed id 22887995)¹ Vaara M....Syvaoja J.E. (2012)
Human DNA polymerase e is able to efficiently extend f rom multiple consecutive ribonucleotides. (PubMed id 23093410)¹ Goksenin A.Y....Pursell Z.F. (2012)
DNA polymerase d and z switch by sharing accessory sub units of DNA polymerase d. (PubMed id 22465957)¹ Baranovskiy A.G....Tahirov T.H. (2012)
Global landscape of HIV-human protein complexes. (PubMed id 22190034)¹ Jager S....Krogan N.J. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for POLE	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for POLE	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/pole/

Intellectual Property for POLE gene
(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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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polymerase (DNA directed), epsilon, catalytic subunit

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polymerase (DNA directed), epsilon, catalytic subunit

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