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POLQ DNA polymerase theta [ Homo sapiens (human) ]

Gene ID: 10721, updated on 24-Nov-2020

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
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
Expression
Biased expression in bone marrow (RPKM 2.5), lymph node (RPKM 1.7) and 13 other tissues See more
Orthologs

Genomic context

See POLQ in Genome Data Viewer
Location:
3q13.33
Exon count:
30
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (121431431..121545988, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121150273..121264853, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene syntaxin binding protein 5 like Neighboring gene zinc finger protein 426 pseudogene Neighboring gene actin related protein 2/3 complex subunit 1A pseudogene Neighboring gene ribosomal protein L7a pseudogene 11 Neighboring gene Sharpr-MPRA regulatory region 30 Neighboring gene arginine-fifty homeobox Neighboring gene F-box protein 40

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.
GeneReviews: Not available
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781A0112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
5'-deoxyribose-5-phosphate lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-directed DNA polymerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA-dependent DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
base-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via alternative nonhomologous end joining IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
negative regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
somatic hypermutation of immunoglobulin genes ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

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)

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
    UniProtKB/TrEMBL
    Q59EE4
    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: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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