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

    Gene ID: 54107, updated on 5-Mar-2024

    Summary

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    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

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    Location:
    9q32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113407235..113410749, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125606053..125609566, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116169515..116173029, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28837 Neighboring gene haloacid dehalogenase like hydrolase domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116162720-116163300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20204 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:116171753-116172952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116173655-116174554 Neighboring gene aminolevulinate dehydratase Neighboring gene chromosome 9 open reading frame 43 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116224910-116225864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116225865-116226819 Neighboring gene regulator of G protein signaling 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116265604-116266246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116266247-116266887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116286687-116287497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116298300-116299051 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:116303397-116303896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116304621-116305136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116305137-116305652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116326740-116327461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116327462-116328182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116344249-116344757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116349073-116349850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116351247-116351748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116351749-116352248 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:116361196-116361362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116361689-116362612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:116375197-116375698 Neighboring gene uncharacterized LOC105376222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116383205-116384076 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116384948-116385819

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. POLE3-POLE4 Is a Histone H3-H4 Chaperone that Maintains Chromatin Integrity during DNA Replication. Bellelli R, et al. Mol Cell, 2018 Oct 4. PMID 30217558, Free PMC Article
    2. Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent. Piulats JM, et al. Clin Cancer Res, 2018 Aug 1. PMID 29618620
    3. Kinetic investigation of the polymerase and exonuclease activities of human DNA polymerase ε holoenzyme. Zahurancik WJ, et al. J Biol Chem, 2020 Dec 11. PMID 33051204, Free PMC Article
    4. The histone-fold protein complex CHRAC-15/17 enhances nucleosome sliding and assembly mediated by ACF. Kukimoto I, et al. Mol Cell, 2004 Jan 30. PMID 14759371
    5. The ACF1 complex is required for DNA double-strand break repair in human cells. Lan L, et al. Mol Cell, 2010 Dec 22. PMID 21172662

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    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

    Pathways from PubChem

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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

    Homology

    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 
    part_of 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
    NP_059139.3

    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)

    1. 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 ...

    2. 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 ...

    RNA

    1. NR_027261.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) retains the first intron compared to variant 1. This variant is represented as non-coding due to the presence of several upstream ORFs that are predicted to interfere with translation of the longest ORF; translation of any these upstream ORFs renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF070640, AK074762, DA521953, DA908447
      Related
      ENST00000479871.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      113407235..113410749 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      125606053..125609566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRF9.1 GenPept UniProtKB/Swiss-Prot:Q9NRF9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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