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POLQ DNA polymerase theta [ Homo sapiens (human) ]

Gene ID: 10721, updated on 2-Nov-2024

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 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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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_199420.4NP_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:20912585
    DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation
    smart00490
    Location:412485
    HELICc; helicase superfamily c-terminal domain
    COG0749
    Location:19002586
    PolA; DNA polymerase I - 3'-5' exonuclease and polymerase domains [Replication, recombination and repair]
    COG1204
    Location:76829
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    pfam00270
    Location:96274
    DEAD; DEAD/DEAH box helicase
    cl10012
    Location:19002085
    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