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POLQ DNA polymerase theta [ Homo sapiens (human) ]

Gene ID: 10721, updated on 16-Apr-2024

Summary

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Official Symbol
POLQprovided by HGNC
Official Full Name
DNA polymerase thetaprovided by HGNC
Primary source
HGNC:HGNC:9186
See related
Ensembl:ENSG00000051341 MIM:604419; AllianceGenome:HGNC:9186
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
PRO0327
Summary
Enables catalytic activity, acting on DNA; chromatin binding activity; and identical protein binding activity. Involved in DNA repair; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 2.5), lymph node (RPKM 1.7) and 13 other tissues See more
Orthologs
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Genomic context

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See POLQ in Genome Data Viewer
Location:
3q13.33
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (121431431..121545988, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124151355..124265920, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121150278..121264835, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene syntaxin binding protein 5L Neighboring gene zinc finger protein 426 pseudogene Neighboring gene MPRA-validated peak4789 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:121090911-121091410 Neighboring gene ARPC1A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:121170539-121171040 Neighboring gene ribosomal protein L7a pseudogene 11 Neighboring gene Sharpr-MPRA regulatory region 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:121279869-121280566 Neighboring gene small nucleolar RNA U13 Neighboring gene arginine-fifty homeobox

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. [Study on enhanced sensitivity to DNA damage in POLQ knocking-down salivary of adenoid cystic carcinoma-83 cells]. Bai H, et al. Shanghai Kou Qiang Yi Xue, 2023 Apr. PMID 37153990
  2. Whole-exome sequencing of Indian prostate cancer reveals a novel therapeutic target: POLQ. Ravindran F, et al. J Cancer Res Clin Oncol, 2023 Jun. PMID 35737091
  3. DNA polymerase θ promotes CAG•CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain. Chan KY, et al. J Biol Chem, 2021 Oct. PMID 34473992, Free PMC Article
  4. Human DNA polymerase θ harbors DNA end-trimming activity critical for DNA repair. Zahn KE, et al. Mol Cell, 2021 Apr 1. PMID 33577776, Free PMC Article
  5. POLQ suppresses interhomolog recombination and loss of heterozygosity at targeted DNA breaks. Davis L, et al. Proc Natl Acad Sci U S A, 2020 Sep 15. PMID 32873648, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. POLQ inhibition attenuates the stemness and ferroptosis resistance in gastric cancer cells via downregulation of dihydroorotate dehydrogenase.
    Title: POLQ inhibition attenuates the stemness and ferroptosis resistance in gastric cancer cells via downregulation of dihydroorotate dehydrogenase.
  2. The m[6]A demethylase FTO targets POLQ to promote ccRCC cell proliferation and genome stability maintenance.
    Title: The m(6)A demethylase FTO targets POLQ to promote ccRCC cell proliferation and genome stability maintenance.
  3. Poltheta; is phosphorylated by PLK1 to repair double-strand breaks in mitosis.
    Title: Polθ is phosphorylated by PLK1 to repair double-strand breaks in mitosis.
  4. [Study on enhanced sensitivity to DNA damage in POLQ knocking-down salivary of adenoid cystic carcinoma-83 cells].
    Title: [Study on enhanced sensitivity to DNA damage in POLQ knocking-down salivary of adenoid cystic carcinoma-83 cells].
  5. Whole-exome sequencing of Indian prostate cancer reveals a novel therapeutic target: POLQ.
    Title: Whole-exome sequencing of Indian prostate cancer reveals a novel therapeutic target: POLQ.
  6. Next-Generation Sequencing-Based Analysis of the Roles of DNA Polymerases nu and theta in the Replicative Bypass of 8-Oxo-7,8-dihydroguanine in Human Cells.
    Title: Next-Generation Sequencing-Based Analysis of the Roles of DNA Polymerases ν and θ in the Replicative Bypass of 8-Oxo-7,8-dihydroguanine in Human Cells.
  7. DNA polymerase theta promotes CAG*CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain.
    Title: DNA polymerase θ promotes CAG•CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain.
  8. DNA polymerase theta (Poltheta) - an error-prone polymerase necessary for genome stability.
    Title: DNA polymerase theta (Polθ) - an error-prone polymerase necessary for genome stability.
  9. Translesion Synthesis or Repair by Specialized DNA Polymerases Limits Excessive Genomic Instability upon Replication Stress.
    Title: Translesion Synthesis or Repair by Specialized DNA Polymerases Limits Excessive Genomic Instability upon Replication Stress.
  10. Recurrent deletions in clonal hematopoiesis are driven by microhomology-mediated end joining.
    Title: Recurrent deletions in clonal hematopoiesis are driven by microhomology-mediated end joining.
Submit: New GeneRIF Correction See all GeneRIFs (55)

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

EBI GWAS Catalog

Description
A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.
EBI GWAS Catalog
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
EBI GWAS Catalog

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

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

Clone Names

  • DKFZp781A0112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5'-deoxyribose-5-phosphate lyase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 RNA-directed DNA polymerase activity TAS
Traceable Author Statement
more info
 PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables damaged DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables single-stranded DNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in RNA-templated DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in base-excision repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair IDA
Inferred from Direct Assay
more info
 PubMed 
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 error-prone translesion synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
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 protein homooligomerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in replication fork processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in somatic hypermutation of immunoglobulin genes ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in site of DNA damage IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in site of double-strand break IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
DNA polymerase theta
Names
epididymis secretory sperm binding protein
polymerase (DNA directed), theta
polymerase (DNA) theta
NP_955452.3

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_199420.4 → NP_955452.3  DNA polymerase theta

    See identical proteins and their annotated locations for NP_955452.3

    Status: VALIDATED

    Source sequence(s)
    AB209867, AC069239, AC079841, AY338826
    Consensus CDS
    CCDS33833.1
    UniProtKB/Swiss-Prot
    O75417, O95160, Q6VMB5
    UniProtKB/TrEMBL
    Q96SE4
    Related
    ENSP00000264233.5, ENST00000264233.6
    Conserved Domains (6) summary
    cd08638
    Location:2091 → 2585
    DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation
    smart00490
    Location:412 → 485
    HELICc; helicase superfamily c-terminal domain
    COG0749
    Location:1900 → 2586
    PolA; DNA polymerase I - 3'-5' exonuclease and polymerase domains [Replication, recombination and repair]
    COG1204
    Location:76 → 829
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    pfam00270
    Location:96 → 274
    DEAD; DEAD/DEAH box helicase
    cl10012
    Location:1900 → 2085
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    121431431..121545988 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    124151355..124265920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_006596.3: Suppressed sequence

    Description
    NM_006596.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75417.2 GenPept UniProtKB/Swiss-Prot:O75417

Gene LinkOut

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

Chemical Information
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