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    POLQ DNA polymerase theta [ Homo sapiens (human) ]

    Gene ID: 10721, updated on 2-Nov-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 several functions, including catalytic activity, acting on DNA; identical protein binding activity; and magnesium ion binding activity. Involved in DNA metabolic process; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. Is active in mitochondrial nucleoid; nucleus; and site of double-strand break. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bone marrow (RPKM 2.5), lymph node (RPKM 1.7) and 13 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (121431431..121545988, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124151355..124265920, complement)
    RS_2024_09 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 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. DNA polymerase theta up-regulation is associated with poor survival in breast cancer, perturbs DNA replication, and promotes genetic instability. Lemée F, et al. Proc Natl Acad Sci U S A, 2010 Jul 27. PMID 20624954, Free PMC Article
    2. A novel role of DNA polymerase eta in modulating cellular sensitivity to chemotherapeutic agents. Chen YW, et al. Mol Cancer Res, 2006 Apr. PMID 16603639
    3. 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
    4. DNA polymerase theta (Polθ) - an error-prone polymerase necessary for genome stability. Brambati A, et al. Curr Opin Genet Dev, 2020 Feb. PMID 32302896, Free PMC Article
    5. Genetic evidence for reconfiguration of DNA polymerase θ active site for error-free translesion synthesis in human cells. Yoon JH, et al. J Biol Chem, 2020 May 1. PMID 32169903, Free PMC Article

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dynamic stem-loop extension by Pol theta; and templated insertion during DNA repair.
      Title: Dynamic stem-loop extension by Pol θ and templated insertion during DNA repair.
    2. Exosomal circPOLQ promotes macrophage M2 polarization via activating IL-10/STAT3 axis in a colorectal cancer model.
      Title: Exosomal circPOLQ promotes macrophage M2 polarization via activating IL-10/STAT3 axis in a colorectal cancer model.
    3. Melanoma-Derived DNA Polymerase Theta Variants Exhibit Altered DNA Polymerase Activity.
      Title: Melanoma-Derived DNA Polymerase Theta Variants Exhibit Altered DNA Polymerase Activity.
    4. Human DNA polymerase theta; does not harbor intrinsic nuclease activity.
      Title: Human DNA polymerase θ does not harbor intrinsic nuclease activity.
    5. 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.
    6. 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.
    7. 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.
    8. [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].
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    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 endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    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 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
    		  
    is_active_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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_2024_08

    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.

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