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Polq polymerase (DNA directed), theta [ Mus musculus (house mouse) ]

Gene ID: 77782, updated on 21-Apr-2024

Summary

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Official Symbol
Polqprovided by MGI
Official Full Name
polymerase (DNA directed), thetaprovided by MGI
Primary source
MGI:MGI:2155399
See related
Ensembl:ENSMUSG00000034206 AllianceGenome:MGI:2155399
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
A430110D14Rik
Summary
Enables DNA-directed DNA polymerase activity. Involved in double-strand break repair via alternative nonhomologous end joining; negative regulation of double-strand break repair via homologous recombination; and somatic hypermutation of immunoglobulin genes. Acts upstream of or within DNA repair. Predicted to be located in Golgi apparatus; cytosol; and nucleoplasm. Is expressed in embryo; heart; spleen; and testis. Orthologous to human POLQ (DNA polymerase theta). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver E14 (RPKM 2.7), liver E14.5 (RPKM 2.2) and 15 other tissues See more
Orthologs
human all
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Genomic context

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Location:
16 B3; 16 26.32 cM
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (36832104..36922321)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (37011741..37095419)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7446 Neighboring gene STARR-positive B cell enhancer ABC_E4169 Neighboring gene STARR-seq mESC enhancer starr_40777 Neighboring gene hematopoietic cell specific Lyn substrate 1 Neighboring gene STARR-seq mESC enhancer starr_40778 Neighboring gene F-box protein 40 Neighboring gene STARR-positive B cell enhancer ABC_E8633 Neighboring gene STARR-positive B cell enhancer ABC_E950 Neighboring gene syntaxin binding protein 5-like Neighboring gene STARR-seq mESC enhancer starr_40780 Neighboring gene STARR-seq mESC enhancer starr_40781 Neighboring gene LIM and senescent cell antigen like domains 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_40782 Neighboring gene predicted gene, 57640

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mechanistic basis for microhomology identification and genome scarring by polymerase theta. Carvajal-Garcia J, et al. Proc Natl Acad Sci U S A, 2020 Apr 14. PMID 32234782, Free PMC Article
  2. Polθ helicase: drive or reverse. Campbell JL, et al. Nat Struct Mol Biol, 2017 Dec 7. PMID 29215638
  3. Mutational signatures of non-homologous and polymerase theta-mediated end-joining in embryonic stem cells. Schimmel J, et al. EMBO J, 2017 Dec 15. PMID 29079701, Free PMC Article
  4. The helicase domain of Polθ counteracts RPA to promote alt-NHEJ. Mateos-Gomez PA, et al. Nat Struct Mol Biol, 2017 Dec. PMID 29058711, Free PMC Article
  5. Essential Roles for Polymerase θ-Mediated End Joining in the Repair of Chromosome Breaks. Wyatt DW, et al. Mol Cell, 2016 Aug 18. PMID 27453047, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DNA polymerase theta, the versatile mediator of microhomology-based repair of DNA double-strand breaks and stalled replication forks, is now revealed to be a member of an elite group of proteins known as annealing helicases.
    Title: Polθ helicase: drive or reverse.
  2. Poltheta;-helicase promotes chromosomal translocations by alternative nonhomologous end joining in mouse embryonic stem cells and also suppresses CRISPR-Cas9- mediated gene targeting by homologous recombination. Poltheta;-helicase activity facilitates the removal of RPA from resected double-strand breaks to allow their annealing and subsequent joining by alternative nonhomologous end joining.
    Title: The helicase domain of Polθ counteracts RPA to promote alt-NHEJ.
  3. Classical non-homologous end-joining (cNHEJ) and polymerase theta-mediated end-joining (TMEJ) act both parallel and redundant in mouse embryonic stem cells and account for virtually all end-joining activity.
    Title: Mutational signatures of non-homologous and polymerase theta-mediated end-joining in embryonic stem cells.
  4. Here, the authors discover that mammalian Poltheta; transfers nucleotides to the 3' terminus of DNA during alt-EJ in vitro and in vivo by oscillating between three different modes of terminal transferase activity: non-templated extension, templated extension in cis, and templated extension in trans.
    Title: Polymerase θ is a robust terminal transferase that oscillates between three different mechanisms during end-joining.
  5. DNA polymerase theta mediates end joining repair of chromosome breaks and helps to sustain cell viability and genome stability by rescuing chromosome break repair when resection is misregulated or NHEJ is compromised.
    Title: Essential Roles for Polymerase θ-Mediated End Joining in the Repair of Chromosome Breaks.
  6. A role for POLQ in an alternative end joining pathway that suppresses the formation of chromosomal translocations.
    Title: Mechanism of suppression of chromosomal instability by DNA polymerase POLQ.
  7. genetic inactivation of an homologous-recombination gene (Fancd2) and Polq in mice results in embryonic lethality
    Title: Homologous-recombination-deficient tumours are dependent on Polθ-mediated repair.
  8. loss of Polq in mice results in increased rates of homology-directed repair, evident by recombination of dysfunctional telomeres and accumulation of RAD51 at double-stranded breaks
    Title: Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination.
  9. the polymerase and other functional domains of POLQ both play important roles in tolerance to etoposide and gamma-irradiation.
    Title: Comparison of two POLQ mutants reveals that a polymerase-inactive POLQ retains significant function in tolerance to etoposide and γ-irradiation in mouse B cells.
  10. The sensitivity of POLQ-defective bone marrow stromal cells to ionizing radiation and bleomycin and the increase in micronuclei in red blood cells support a role for this DNA polymerase in cellular tolerance of DNA damage.
    Title: Lack of DNA polymerase theta (POLQ) radiosensitizes bone marrow stromal cells in vitro and increases reticulocyte micronuclei after total-body irradiation.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 5'-deoxyribose-5-phosphate lyase activity ISO
Inferred from Sequence Orthology
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA helicase activity ISO
Inferred from Sequence Orthology
more info
  
enables DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-directed DNA polymerase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-directed DNA polymerase activity ISO
Inferred from Sequence Orthology
more info
  
enables RNA-directed DNA polymerase activity IEA
Inferred from Electronic Annotation
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
  
enables endonuclease activity IEA
Inferred from Electronic Annotation
more info
  
enables helicase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables magnesium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nuclease activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables single-stranded DNA endodeoxyribonuclease activity ISO
Inferred from Sequence Orthology
more info
  
enables single-stranded DNA helicase activity ISO
Inferred from Sequence Orthology
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in DNA damage response ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within DNA repair IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within DNA repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA replication IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA-templated DNA replication IEA
Inferred from Electronic Annotation
more info
  
involved_in base-excision repair ISO
Inferred from Sequence Orthology
more info
  
involved_in double-strand break repair ISO
Inferred from Sequence Orthology
more info
  
involved_in double-strand break repair via alternative nonhomologous end joining IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via alternative nonhomologous end joining IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair via alternative nonhomologous end joining ISO
Inferred from Sequence Orthology
more info
  
involved_in error-prone translesion synthesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of double-strand break repair via homologous recombination ISO
Inferred from Sequence Orthology
more info
  
involved_in protein homooligomerization ISO
Inferred from Sequence Orthology
more info
  
involved_in replication fork processing ISO
Inferred from Sequence Orthology
more info
  
involved_in somatic hypermutation of immunoglobulin genes IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
is_active_in site of DNA damage ISO
Inferred from Sequence Orthology
more info
  
is_active_in site of double-strand break ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
DNA polymerase theta
Names
DNA polymerase eta
chromosome aberrations occurring spontaneously protein 1
NP_001152841.1
NP_084253.1
XP_006522798.1
XP_006522799.2
XP_036016073.1

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_001159369.1 → NP_001152841.1  DNA polymerase theta isoform 2

    See identical proteins and their annotated locations for NP_001152841.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK139505, AY147862, CO041834
    Consensus CDS
    CCDS49845.1
    UniProtKB/TrEMBL
    Q7TQC0
    Related
    ENSMUSP00000071396.5, ENSMUST00000071452.12
    Conserved Domains (4) summary
    cd08638
    Location:1767 → 2260
    DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation
    COG0749
    Location:1573 → 2261
    PolA; DNA polymerase I - 3'-5' exonuclease and polymerase domains [Replication, recombination and repair]
    cl10012
    Location:1574 → 1761
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    cl21455
    Location:95 → 192
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_029977.2 → NP_084253.1  DNA polymerase theta isoform 1

    See identical proteins and their annotated locations for NP_084253.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK139505, AY074936, CO041834
    Consensus CDS
    CCDS28158.1
    UniProtKB/Swiss-Prot
    Q3UTE0, Q8CGS6
    UniProtKB/TrEMBL
    Q7TQC0, Q80XB7
    Related
    ENSMUSP00000059757.6, ENSMUST00000054034.7
    Conserved Domains (4) summary
    cd08638
    Location:2046 → 2539
    DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation
    COG1204
    Location:75 → 820
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cd18026
    Location:75 → 288
    DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta
    cl10012
    Location:1853 → 2040
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    36832104..36922321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006522735.5 → XP_006522798.1  DNA polymerase theta isoform X2

    UniProtKB/TrEMBL
    Q7TQC0
    Conserved Domains (3) summary
    COG1204
    Location:75 → 820
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    PRK05755
    Location:1828 → 2112
    PRK05755; DNA polymerase I; Provisional
    cd18026
    Location:75 → 288
    DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta

  2. XM_036160180.1 → XP_036016073.1  DNA polymerase theta isoform X1

    UniProtKB/TrEMBL
    Q7TQC0
    Conserved Domains (3) summary
    cd08638
    Location:1876 → 2369
    DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation
    COG1204
    Location:14 → 650
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cl10012
    Location:1683 → 1870
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  3. XM_006522736.4 → XP_006522799.2  DNA polymerase theta isoform X3

    Conserved Domains (3) summary
    cd08638
    Location:1580 → 2073
    DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation
    PRK02362
    Location:23 → 364
    PRK02362; ATP-dependent DNA helicase
    cl10012
    Location:1387 → 1574
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

RNA

  1. XR_004939254.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CGS6.2 GenPept UniProtKB/Swiss-Prot:Q8CGS6

Gene LinkOut

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