Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

POLE

protein_coding 12 132,623,753 - 132,687,376 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000177084

Gene type
protein_coding

Chromosome
12

Coordinates
132,623,753 - 132,687,376

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

5426 CCDS9278 DNA polymerase epsilon catalytic subunit A ENST00000320574.10 NM_006231 NM_006231.4 POLE1 Q07864 polymerase (DNA directed), epsilon polymerase (DNA) epsilon, catalytic subunit

Summary

GENCODE gene_type=protein_coding; HGNC symbol=POLE; HGNC name=DNA polymerase epsilon; alias_count=12; RefSeq=NM_006231; UniProt=Q07864; MANE Select=ENST00000320574.10,NM_006231.4

Source: GENCODE + HGNC complete set

5426 • protein-coding

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]

NCBI Gene

UniProt

Q07864 • reviewed

Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27573199). Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation (PubMed:20227374)

DNA polymerase epsilon catalytic subunit A · Nucleus · EC 2.7.7.7

GO annotations

Biological process

GO:0071897 DNA biosynthetic process (IEA)
GO:0006281 DNA repair (IEA)
GO:0006260 DNA replication (IEA)
GO:0006260 DNA replication (IMP)
GO:0006260 DNA replication (TAS)
GO:0045004 DNA replication proofreading (IBA)
GO:0000731 DNA synthesis involved in DNA repair (IMP)
GO:0006261 DNA-templated DNA replication (IEA)
GO:0006261 DNA-templated DNA replication (IDA)
GO:0000082 G1/S transition of mitotic cell cycle (IMP)

+ 6 more

Cellular component

GO:0008622 epsilon DNA polymerase complex (IEA)
GO:0008622 epsilon DNA polymerase complex (IEA)
GO:0008622 epsilon DNA polymerase complex (IDA)
GO:0008622 epsilon DNA polymerase complex (IPI)
GO:0008622 epsilon DNA polymerase complex (IDA)
GO:0008622 epsilon DNA polymerase complex (IBA)
GO:0005654 nucleoplasm (IDA)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)

+ 4 more

Molecular function

GO:0003677 DNA binding (IEA)
GO:0003677 DNA binding (IDA)
GO:0003677 DNA binding (TAS)
GO:0034061 DNA polymerase activity (ISS)
GO:0034061 DNA polymerase activity (IEA)
GO:0003887 DNA-directed DNA polymerase activity (IEA)
GO:0003887 DNA-directed DNA polymerase activity (IEA)
GO:0003887 DNA-directed DNA polymerase activity (IEA)
GO:0003887 DNA-directed DNA polymerase activity (IEA)
GO:0003887 DNA-directed DNA polymerase activity (IMP)

+ 13 more

Representative

Representative transcript
ENST00000320574

Representative protein
ENSP00000322570.5

Representative type
CCDS

Candidate count
3

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000541627	POLE-214	retained_intron	not available	not available	12:132,623,753 - 132,625,951 -
ENST00000535270	POLE-207	protein_coding	not available	ENSP00000445753.1	12:132,623,760 - 132,687,369 -
ENST00000937600	POLE-225	protein_coding	not available	ENSP00000607659.1	12:132,623,760 - 132,687,369 -
ENST00001141704	POLE-226	protein_coding	not available	ENSP00000806837.1	12:132,623,760 - 132,687,369 -
ENST00000320574	POLE-201	protein_coding	not available	ENSP00000322570.5	12:132,623,762 - 132,687,342 -
ENST00000699981	POLE-220	retained_intron	not available	not available	12:132,623,762 - 132,658,899 -
ENST00000544870	POLE-216	nonsense_mediated_decay	not available	ENSP00000479927.2	12:132,623,776 - 132,665,390 -
ENST00000672002	POLE-218	nonsense_mediated_decay	not available	ENSP00000500233.1	12:132,623,776 - 132,665,390 -
ENST00000672742	POLE-219	nonsense_mediated_decay	not available	ENSP00000500279.1	12:132,623,776 - 132,687,376 -
ENST00000699982	POLE-221	nonsense_mediated_decay	not available	ENSP00000514736.1	12:132,623,776 - 132,681,187 -
ENST00000699983	POLE-222	nonsense_mediated_decay	not available	ENSP00000514737.1	12:132,623,776 - 132,681,187 -
ENST00000699984	POLE-223	nonsense_mediated_decay	not available	ENSP00000514738.1	12:132,623,783 - 132,681,187 -
ENST00000537064	POLE-208	nonsense_mediated_decay	not available	ENSP00000442578.1	12:132,624,263 - 132,687,347 -
ENST00000434528	POLE-203	nonsense_mediated_decay	not available	ENSP00000500921.1	12:132,624,690 - 132,642,258 -
ENST00000538196	POLE-209	protein_coding_CDS_not_defined	not available	not available	12:132,625,298 - 132,632,416 -
ENST00000534922	POLE-206	retained_intron	not available	not available	12:132,625,648 - 132,632,557 -
ENST00000441786	POLE-204	nonsense_mediated_decay	not available	ENSP00000480727.1	12:132,626,311 - 132,635,992 -
ENST00000544414	POLE-215	retained_intron	not available	not available	12:132,632,508 - 132,635,985 -
ENST00000416953	POLE-202	retained_intron	not available	not available	12:132,633,356 - 132,658,868 -
ENST00000540987	POLE-213	retained_intron	not available	not available	12:132,648,546 - 132,649,365 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.