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

Summary

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

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_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (6)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 2.7.7.49

EC 2.7.7.7

EC 3.6.4.12

NP_084253.1

EC 2.7.7.49

EC 2.7.7.7

EC 3.6.4.12

XP_006522798.1

EC 2.7.7.49

EC 2.7.7.7

EC 3.6.4.12

XP_006522799.2

EC 2.7.7.49

EC 2.7.7.7

EC 3.6.4.12

XP_036016073.1

EC 2.7.7.49

EC 2.7.7.7

EC 3.6.4.12

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_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
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

NC_000082.7 Reference GRCm39 C57BL/6J

Range

36832104..36922321

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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