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Aliases for POLQ Gene

Aliases for POLQ Gene

  • DNA Polymerase Theta 2 3 5
  • Polymerase (DNA Directed), Theta 2 3
  • Polymerase (DNA) Theta 2 3
  • DNA Polymerase Eta 4
  • EC 2.7.7.7 4
  • PRO0327 3
  • POLH 4

External Ids for POLQ Gene

Previous GeneCards Identifiers for POLQ Gene

  • GC03M117806
  • GC03M120791
  • GC03M122431
  • GC03M122471
  • GC03M122632
  • GC03M121150
  • GC03M118524

Summaries for POLQ Gene

GeneCards Summary for POLQ Gene

POLQ (DNA Polymerase Theta) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and Cell Cycle Control of Chromosomal Replication. GO annotations related to this gene include nucleic acid binding and damaged DNA binding. An important paralog of this gene is ASCC3.

UniProtKB/Swiss-Prot for POLQ Gene

  • DNA polymerase that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery triggered in response to double-strand breaks in DNA (PubMed:25642963, PubMed:25643323). MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation (PubMed:25642963, PubMed:25643323). POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends (PubMed:25642963). POLQ-mediated MMEJ may be required to promote the survival of cells with a compromised HR repair pathway, thereby preventing genomic havoc by resolving unrepaired lesions (By similarity). The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs. It then extends each strand from the base-paired region using the opposing overhang as a template. Requires partially resected DNA containing 2 to 6 base pairs of microhomology to perform MMEJ (PubMed:25643323). The polymerase activity is highly promiscuous: unlike most polymerases, promotes extension of ssDNA and partial ssDNA (pssDNA) substrates (PubMed:18503084, PubMed:21050863, PubMed:22135286). Also exhibits low-fidelity DNA synthesis, translesion synthesis and lyase activity, and it is implicated in interstrand-cross-link repair, base excision repair and DNA end-joining (PubMed:14576298, PubMed:18503084, PubMed:19188258, PubMed:24648516). Involved in somatic hypermutation of immunoglobulin genes, a process that requires the activity of DNA polymerases to ultimately introduce mutations at both A/T and C/G base pairs (By similarity).

Gene Wiki entry for POLQ Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLQ Gene

Genomics for POLQ Gene

Regulatory Elements for POLQ Gene

Enhancers for POLQ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G121574 0.8 ENCODE 12.2 -28.0 -27988 0.1 HDAC1 PKNOX1 ZBTB40 TCF12 GATA2 FOS SP5 JUNB ZEB2 REST POLQ CSTA ARGFX FBXO40
GH03G122105 0.6 ENCODE dbSUPER 10.3 -559.1 -559148 0.2 EBF1 CASR POLQ ILDR1
GH03G121599 0.5 dbSUPER 10.7 -55.1 -55129 4.0 MEF2D ATF3 CEBPB CEBPG ATF2 POLQ IQCB1 FBXO40 RN7SL172P
GH03G122111 0.5 dbSUPER 10.3 -565.0 -565018 1.2 IKZF1 RELB IKZF2 EP300 CSTA CASR POLQ RPL7AP11 ILDR1
GH03G121507 0.2 ENCODE 10.9 +38.2 38212 1.2 POLQ STXBP5L RPL7AP11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLQ on UCSC Golden Path with GeneCards custom track

Promoters for POLQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000157254 740 2200 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 DEK

Genomic Location for POLQ Gene

Chromosome:
3
Start:
121,431,420 bp from pter
End:
121,546,641 bp from pter
Size:
115,222 bases
Orientation:
Minus strand

Genomic View for POLQ Gene

Genes around POLQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLQ Gene

Proteins for POLQ Gene

  • Protein details for POLQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75417-DPOLQ_HUMAN
    Recommended name:
    DNA polymerase theta
    Protein Accession:
    O75417
    Secondary Accessions:
    • O95160
    • Q6VMB5

    Protein attributes for POLQ Gene

    Size:
    2590 amino acids
    Molecular mass:
    289619 Da
    Quaternary structure:
    • Homomultimer; forms dimers and multimers (PubMed:25643323). Interacts with RAD51 (PubMed:25642963). Interacts with ORC2 and ORC4 (PubMed:24989122).
    SequenceCaution:
    • Sequence=AAD05272.1; Type=Frameshift; Positions=1754; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POLQ Gene

    Alternative splice isoforms for POLQ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLQ Gene

Post-translational modifications for POLQ Gene

  • Ubiquitination at Lys475
  • Modification sites at PhosphoSitePlus

Other Protein References for POLQ Gene

No data available for DME Specific Peptides for POLQ Gene

Domains & Families for POLQ Gene

Gene Families for POLQ Gene

Graphical View of Domain Structure for InterPro Entry

O75417

UniProtKB/Swiss-Prot:

DPOLQ_HUMAN :
  • The loop 2 region is involved in the binding of the 2 ends of resected double-strand breaks and homomultimerization.
  • Belongs to the DNA polymerase type-A family.
Domain:
  • The loop 2 region is involved in the binding of the 2 ends of resected double-strand breaks and homomultimerization.
Family:
  • Belongs to the DNA polymerase type-A family.
genes like me logo Genes that share domains with POLQ: view

Function for POLQ Gene

Molecular function for POLQ Gene

GENATLAS Biochemistry:
polymerase (DNA directed),theta,homolog to Drosophila mus 308,widely expressed,involved in DNA replication of nuclear genome,target of mutational inactivation in sporadic tumors
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.095 uM for dATP:T {ECO:0000269 PubMed:22135286}; KM=0.622 uM for dATP: abasic site {ECO:0000269 PubMed:22135286}; KM=3.08 uM for dGTP: no template {ECO:0000269 PubMed:22135286};
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
DNA polymerase that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery triggered in response to double-strand breaks in DNA (PubMed:25642963, PubMed:25643323). MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation (PubMed:25642963, PubMed:25643323). POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends (PubMed:25642963). POLQ-mediated MMEJ may be required to promote the survival of cells with a compromised HR repair pathway, thereby preventing genomic havoc by resolving unrepaired lesions (By similarity). The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs. It then extends each strand from the base-paired region using the opposing overhang as a template. Requires partially resected DNA containing 2 to 6 base pairs of microhomology to perform MMEJ (PubMed:25643323). The polymerase activity is highly promiscuous: unlike most polymerases, promotes extension of ssDNA and partial ssDNA (pssDNA) substrates (PubMed:18503084, PubMed:21050863, PubMed:22135286). Also exhibits low-fidelity DNA synthesis, translesion synthesis and lyase activity, and it is implicated in interstrand-cross-link repair, base excision repair and DNA end-joining (PubMed:14576298, PubMed:18503084, PubMed:19188258, PubMed:24648516). Involved in somatic hypermutation of immunoglobulin genes, a process that requires the activity of DNA polymerases to ultimately introduce mutations at both A/T and C/G base pairs (By similarity).

Enzyme Numbers (IUBMB) for POLQ Gene

Gene Ontology (GO) - Molecular Function for POLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 25642963
GO:0003684 damaged DNA binding TAS 10395804
GO:0003887 DNA-directed DNA polymerase activity IMP,IEA 22135286
genes like me logo Genes that share ontologies with POLQ: view
genes like me logo Genes that share phenotypes with POLQ: view

Animal Models for POLQ Gene

MGI Knock Outs for POLQ:

Animal Model Products

CRISPR Products

miRNA for POLQ Gene

miRTarBase miRNAs that target POLQ

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLQ Gene

Localization for POLQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLQ Gene

Nucleus. Chromosome. Note=Enriched in chromatin in response to ultaviolet (UV) light (PubMed:25642963). Binds to chromatin during early G1 (PubMed:24989122). {ECO:0000269 PubMed:24989122, ECO:0000269 PubMed:25642963}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLQ gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with POLQ: view

Pathways & Interactions for POLQ Gene

genes like me logo Genes that share pathways with POLQ: view

Pathways by source for POLQ Gene

Gene Ontology (GO) - Biological Process for POLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0006260 DNA replication IEA --
GO:0006261 DNA-dependent DNA replication IBA,IEA --
GO:0006281 DNA repair TAS 10395804
GO:0006284 base-excision repair IDA 19188258
genes like me logo Genes that share ontologies with POLQ: view

No data available for SIGNOR curated interactions for POLQ Gene

Drugs & Compounds for POLQ Gene

(4) Drugs for POLQ Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0
dgtp Experimental Pharma 0

(2) Additional Compounds for POLQ Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLQ: view

Transcripts for POLQ Gene

Unigene Clusters for POLQ Gene

Polymerase (DNA directed), theta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLQ Gene

No ASD Table

Relevant External Links for POLQ Gene

GeneLoc Exon Structure for
POLQ
ECgene alternative splicing isoforms for
POLQ

Expression for POLQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLQ Gene

mRNA differential expression in normal tissues according to GTEx for POLQ Gene

This gene is overexpressed in Esophagus - Mucosa (x5.0) and Testis (x4.6).

Protein differential expression in normal tissues from HIPED for POLQ Gene

This gene is overexpressed in Fetal testis (36.0) and Fetal Brain (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLQ Gene



NURSA nuclear receptor signaling pathways regulating expression of POLQ Gene:

POLQ

SOURCE GeneReport for Unigene cluster for POLQ Gene:

Hs.241517

mRNA Expression by UniProt/SwissProt for POLQ Gene:

O75417-DPOLQ_HUMAN
Tissue specificity: Highly expressed in testis.

Evidence on tissue expression from TISSUES for POLQ Gene

  • Spleen(4.1)
genes like me logo Genes that share expression patterns with POLQ: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLQ Gene

Orthologs for POLQ Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLQ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLQ 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 88 (a)
OneToMany
POLQ 34
  • 86.48 (n)
-- 35
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia POLQ 34 35
  • 86.45 (n)
mouse
(Mus musculus)
Mammalia Polq 34 16 35
  • 80.46 (n)
rat
(Rattus norvegicus)
Mammalia Polq 34
  • 79.74 (n)
oppossum
(Monodelphis domestica)
Mammalia POLQ 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLQ 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLQ 34 35
  • 64.94 (n)
lizard
(Anolis carolinensis)
Reptilia POLQ 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polq 34
  • 61.55 (n)
Str.16245 34
zebrafish
(Danio rerio)
Actinopterygii si:rp71-1p14.5 34
  • 63.41 (n)
POLQ 35
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mus308 36 34 35
  • 48.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007533 34
  • 47.43 (n)
worm
(Caenorhabditis elegans)
Secernentea W03A3.3 36
  • 37 (a)
W03A3.2 36
  • 34 (a)
polq-1 35
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 35
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU07411 34
  • 45.04 (n)
Species where no ortholog for POLQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLQ Gene

ENSEMBL:
Gene Tree for POLQ (if available)
TreeFam:
Gene Tree for POLQ (if available)

Paralogs for POLQ Gene

Paralogs for POLQ Gene

(1) SIMAP similar genes for POLQ Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with POLQ: view

Variants for POLQ Gene

Sequence variations from dbSNP and Humsavar for POLQ Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000057040 -- 121,459,820(+) GCATA(C/T)GGTTT intron-variant
rs1000063003 -- 121,475,694(+) GGTAA(C/T)TGCCA intron-variant
rs1000083308 -- 121,443,158(+) GCCTA(-/T)TTTTA intron-variant
rs1000094340 -- 121,522,576(+) AAAGT(A/G)CTGGG intron-variant
rs1000127403 -- 121,447,298(+) CCCAA(C/G)TAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLQ Gene

Variant ID Type Subtype PubMed ID
dgv8524n54 CNV gain 21841781
dgv8525n54 CNV gain 21841781
esv2670132 CNV deletion 23128226
esv3451038 OTHER inversion 20981092
esv3575598 CNV gain 25503493
esv3597587 CNV gain 21293372
esv3597593 CNV gain 21293372
esv3597594 CNV loss 21293372
nsv1007522 CNV gain 25217958
nsv1141890 OTHER inversion 24896259
nsv521397 CNV gain 19592680
nsv591400 CNV gain 21841781
nsv591401 CNV gain 21841781
nsv829702 CNV gain 17160897
nsv963356 CNV duplication 23825009
nsv999335 CNV gain 25217958
nsv999349 CNV gain 25217958

Variation tolerance for POLQ Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.86; 95.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLQ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLQ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLQ Gene

Disorders for POLQ Gene

UniProtKB/Swiss-Prot

DPOLQ_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:20624954, ECO:0000269 PubMed:20700469, ECO:0000269 PubMed:25409685}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for POLQ

Genetic Association Database (GAD)
POLQ
Human Genome Epidemiology (HuGE) Navigator
POLQ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLQ

No disorders were found for POLQ Gene.

No data available for MalaCards and Genatlas for POLQ Gene

Publications for POLQ Gene

  1. Cloning and chromosomal mapping of the human DNA polymerase theta (POLQ), the eighth human DNA polymerase. (PMID: 10395804) Sharief F.S. … Copeland W.C. (Genomics 1999) 2 3 4 22 64
  2. Human DNA polymerase theta possesses 5'-dRP lyase activity and functions in single-nucleotide base excision repair in vitro. (PMID: 19188258) Prasad R. … Wilson S.H. (Nucleic Acids Res. 2009) 3 4 22 64
  3. Low-fidelity DNA synthesis by human DNA polymerase theta. (PMID: 18503084) Arana M.E. … Kunkel T.A. (Nucleic Acids Res. 2008) 3 4 22 64
  4. POLQ (Pol theta), a DNA polymerase and DNA-dependent ATPase in human cells. (PMID: 14576298) Seki M. … Wood R.D. (Nucleic Acids Res. 2003) 3 4 22 64
  5. Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase theta. (PMID: 25643323) Kent T. … Pomerantz R.T. (Nat. Struct. Mol. Biol. 2015) 3 4 64

Products for POLQ Gene

Sources for POLQ Gene

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