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    POLQ DNA polymerase theta [ Homo sapiens (human) ]

    Gene ID: 10721, updated on 10-Dec-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, Dec 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (123 hits/1270 screens)

    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

    General gene information

    Clone Names

    • DKFZp781A0112

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5'-deoxyribose-5-phosphate lyase activity PubMed 
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables ATP-dependent H2AZ histone chaperone activity  
    enables ATP-dependent H3-H4 histone complex chaperone activity  
    enables DNA clamp loader activity  
    enables DNA helicase activity PubMed 
    enables DNA-directed DNA polymerase activity  
    enables DNA-directed DNA polymerase activity PubMed 
    enables DNA-directed DNA polymerase activity PubMed 
    enables RNA-directed DNA polymerase activity PubMed 
    enables chromatin binding PubMed 
    enables chromatin extrusion motor activity  
    enables cohesin loader activity  
    enables damaged DNA binding PubMed 
    enables identical protein binding PubMed 
    enables magnesium ion binding PubMed 
    enables protein binding PubMed 
    enables single-stranded DNA helicase activity PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response PubMed 
    involved_in DNA duplex unwinding  
    involved_in DNA repair PubMed 
    involved_in RNA-templated DNA biosynthetic process  
    involved_in base-excision repair PubMed 
    involved_in chromatin looping  
    involved_in chromatin remodeling  
    involved_in double-strand break repair PubMed 
    involved_in double-strand break repair via alternative nonhomologous end joining  
    involved_in double-strand break repair via alternative nonhomologous end joining PubMed 
    involved_in error-prone translesion synthesis PubMed 
    involved_in negative regulation of double-strand break repair via homologous recombination PubMed 
    involved_in negative regulation of double-strand break repair via homologous recombination PubMed 
    involved_in protein homooligomerization PubMed 
    involved_in replication fork processing PubMed 
    involved_in somatic hypermutation of immunoglobulin genes  
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    located_in cytosol  
    is_active_in mitochondrial nucleoid PubMed 
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus PubMed 
    is_active_in site of DNA damage PubMed 
    is_active_in site of double-strand break 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_199420.4 → 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)

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