POLE4 DNA polymerase epsilon 4, accessory subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLE4provided by HGNC
Official Full Name: DNA polymerase epsilon 4, accessory subunitprovided by HGNC
Primary source: HGNC:HGNC:18755
See related: Ensembl:ENSG00000115350 MIM:607269; AllianceGenome:HGNC:18755
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: p12; YHHQ1
Summary: POLE4 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 fat (RPKM 27.9), bone marrow (RPKM 20.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74958643..74970128)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74967499..74978982)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (75185770..75197255)

Chromosome 2 - NC_000002.12 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: 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

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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.
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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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 4 (POLE4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61984 (e-PCR)
- UniSTS:45421

D2S2045 (e-PCR)
- UniSTS:19885

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-directed DNA polymerase activity	TAS Traceable Author Statement more info	PubMed
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-templated DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA-templated DNA replication	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of ATAC complex	IDA Inferred from Direct Assay 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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: DNA polymerase epsilon subunit 4

Names: DNA polymerase II subunit 4; DNA polymerase epsilon subunit p12; polymerase (DNA) epsilon 4, accessory subunit; polymerase (DNA-directed), epsilon 4, accessory subunit

NP_063949.2

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.