POLQ DNA polymerase theta [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
[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].
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A005M24 (e-PCR)
- UniSTS:70175

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-132148 (e-PCR)
- UniSTS:183652

SHGC-151004 (e-PCR)
- UniSTS:173441

D11S3114 (e-PCR)
- UniSTS:152207

csnppolq-pcr1-1 (e-PCR)
- UniSTS:243093

D3S3154 (e-PCR)
- UniSTS:153238

csnppolq-pcr1-2 (e-PCR)
- UniSTS:243094

csnppolq-pcr1-3 (e-PCR)
- UniSTS:243095

csnppolq-pcr1-4 (e-PCR)
- UniSTS:243096

csnppolq-pcr1-5 (e-PCR)
- UniSTS:243097

csnppolq-pcr10-1 (e-PCR)
- UniSTS:243098

csnppolq-pcr11-1 (e-PCR)
- UniSTS:243099

csnppolq-pcr12-1 (e-PCR)
- UniSTS:243100

csnppolq-pcr13-1 (e-PCR)
- UniSTS:243101

csnppolq-pcr14-1 (e-PCR)
- UniSTS:243102

csnppolq-pcr3-1 (e-PCR)
- UniSTS:243103

csnppolq-pcr6-1 (e-PCR)
- UniSTS:243104

SHGC-13740 (e-PCR)
- UniSTS:10401

csnppolq-pcr7-1 (e-PCR)
- UniSTS:243105

csnppolq-pcr8-1 (e-PCR)
- UniSTS:243106

csnppolq-pcr9-1 (e-PCR)
- UniSTS:243107

D3S3709 (e-PCR)
- UniSTS:71670

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

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_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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

121431431..121545988 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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