POLE3 DNA polymerase epsilon 3, accessory subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLE3provided by HGNC
Official Full Name: DNA polymerase epsilon 3, accessory subunitprovided by HGNC
Primary source: HGNC:HGNC:13546
See related: Ensembl:ENSG00000148229 MIM:607267; AllianceGenome:HGNC:13546
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p17; YBL1; CHRAC2; CHRAC17; CHARAC17
Summary: POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
Expression: Ubiquitous expression in bone marrow (RPKM 36.1), testis (RPKM 24.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (113407235..113410749, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (125606053..125609566, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (116169515..116173029, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of POLE3-POLE4 unleashes replicative gap accumulation upon treatment with PARP inhibitors.
Title: Loss of POLE3-POLE4 unleashes replicative gap accumulation upon treatment with PARP inhibitors.
We studied the expression profile of the 60 genes located at that genomic region. POLE3 and AKNA were the only two genes deregulated in resistant tumors harboring the 9q32-q33.1 gain
Title: Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent.
iochemical analyses establish that POLE3-POLE4 is a histone chaperone that promotes tetrasome formation and DNA supercoiling in vitro. In cells, POLE3-POLE4 binds both newly synthesized and parental histones, and its depletion hinders helicase unwinding and chromatin PCNA unloading and compromises coordinated parental histone retention and new histone deposition
Title: POLE3-POLE4 Is a Histone H3-H4 Chaperone that Maintains Chromatin Integrity during DNA Replication.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	HIV-1 PR is identified to have a physical interaction with polymerase (DNA directed), epsilon 3 (POLE3) 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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15642 (e-PCR)
- UniSTS:7210

D9S2097 (e-PCR)
- UniSTS:35662

RH17227 (e-PCR)
- UniSTS:84436

SHGC-24263 (e-PCR)
- UniSTS:40181

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-directed DNA polymerase activity	TAS Traceable Author Statement more info	PubMed
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication	TAS Traceable Author Statement more info	PubMed
involved_in DNA-templated DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in leading strand elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ATAC complex	IDA Inferred from Direct Assay more info	PubMed
part_of CHRAC	IBA Inferred from Biological aspect of Ancestor more info
part_of CHRAC	NAS Non-traceable Author Statement more info	PubMed
part_of epsilon DNA polymerase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of epsilon DNA polymerase complex	IDA Inferred from Direct Assay more info	PubMed
part_of epsilon DNA polymerase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
located_in pericentric heterochromatin	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA polymerase epsilon subunit 3

Names: CHRAC-17; DNA polymerase II subunit 3; DNA polymerase epsilon p17 subunit; DNA polymerase epsilon subunit p17; arsenic transactivated protein; asTP; chromatin accessibility complex 17 kDa protein; chromatin accessibility complex subunit 2; histone fold protein CHRAC17; huCHRAC17; polymerase (DNA directed), epsilon 3 (p17 subunit); polymerase (DNA directed), epsilon 3, accessory subunit; polymerase (DNA) epsilon 3, accessory subunit

NP_001265184.1

EC 2.7.7.7

NP_059139.3

EC 2.7.7.7

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001278255.1 → NP_001265184.1 DNA polymerase epsilon subunit 3

See identical proteins and their annotated locations for NP_001265184.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AF070640, AK074762, DA477404, DA908447

Consensus CDS

CCDS6795.1

UniProtKB/Swiss-Prot

Q5W0U1, Q8N758, Q8NCE5, Q9NR32, Q9NRF9

Conserved Domains (1) summary

cl23735
Location:1 → 105

H4; Histone H4, one of the four histones, along with H2A, H2B and H3, which forms the eukaryotic nucleosome core; along with H3, it plays a central role in nucleosome formation; histones bind to DNA and wrap the genetic material into "beads on a string" in ...
NM_001433719.1 → NP_001420648.1 DNA polymerase epsilon subunit 3

Status: VALIDATED

Source sequence(s)

AL137066

UniProtKB/Swiss-Prot

Q5W0U1, Q8N758, Q8NCE5, Q9NR32, Q9NRF9
NM_017443.5 → NP_059139.3 DNA polymerase epsilon subunit 3

See identical proteins and their annotated locations for NP_059139.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer protein-coding transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AF070640, AK074762, DA908447

Consensus CDS

CCDS6795.1

UniProtKB/Swiss-Prot

Q5W0U1, Q8N758, Q8NCE5, Q9NR32, Q9NRF9

Related

ENSP00000363286.4, ENST00000374171.5

Conserved Domains (1) summary

cl23735
Location:1 → 105

H4; Histone H4, one of the four histones, along with H2A, H2B and H3, which forms the eukaryotic nucleosome core; along with H3, it plays a central role in nucleosome formation; histones bind to DNA and wrap the genetic material into "beads on a string" in ...