POLQ report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of POLQ at tissue level.

III. Associated gene sets

GO_0032508Biological processDNA duplex unwinding
GO_0051260Biological processprotein homooligomerization
GO_0006281Biological processDNA repair
GO_0042276Biological processerror-prone translesion synthesis
GO_0006302Biological processdouble-strand break repair
GO_0006974Biological processDNA damage response
GO_0097681Biological processdouble-strand break repair via alternative nonhomologous end joining
GO_2000042Biological processnegative regulation of double-strand break repair via homologous recombination
GO_0031297Biological processreplication fork processing
GO_0006278Biological processRNA-templated DNA biosynthetic process
GO_0016446Biological processsomatic hypermutation of immunoglobulin genes
GO_0006284Biological processbase-excision repair
GO_0005654Cellular componentnucleoplasm
GO_0005794Cellular componentGolgi apparatus
GO_0090734Cellular componentsite of DNA damage
GO_0005829Cellular componentcytosol
GO_0035861Cellular componentsite of double-strand break
GO_0003887Molecular functionDNA-directed DNA polymerase activity
GO_0051575Molecular function5'-deoxyribose-5-phosphate lyase activity
GO_0003682Molecular functionchromatin binding
GO_0003964Molecular functionRNA-directed DNA polymerase activity
GO_0000287Molecular functionmagnesium ion binding
GO_0003678Molecular functionDNA helicase activity
GO_0017116Molecular functionsingle-stranded DNA helicase activity
GO_0005524Molecular functionATP binding
GO_0000014Molecular functionsingle-stranded DNA endodeoxyribonuclease activity
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity
GO_0003684Molecular functiondamaged DNA binding

IV. Literature review

[source]
Gene namePOLQ
Protein nameDNA polymerase theta (DNA polymerase eta) [Includes: Helicase POLQ (EC 3.6.4.12); DNA polymerase POLQ (EC 2.7.7.7) (RNA-directed DNA polymerase POLQ) (EC 2.7.7.49)]
DNA polymerase theta
PRO0327 (Polymerase (DNA directed), theta, isoform CRA_c)
DNA helicase (EC 3.6.4.12)
SynonymshCG_2022564
POLH
DescriptionFUNCTION: Low-fidelity DNA polymerase with a helicase activity that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery required to repair double-strand breaks in DNA during mitosis . 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 . MMEJ is required during mitosis to repair persistent double-strand breaks that originate in S-phase . Although error-prone, MMEJ protects against chromosomal instability and tumorigenesis (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 . The polymerase lacks proofreading activity and is highly promiscuous: unlike most polymerases, promotes extension of ssDNA and partial ssDNA (pssDNA) substrates . When the ends of a break do not contain terminal microhomology must identify embedded complementary sequences through a scanning step . Also shows endonuclease activity, which is required to trim the 3' ends before synthesis can occur, thereby preventing non-paired tails . Also acts as a DNA helicase, promoting dissociation of the replication protein A complex (RPA/RP-A), composed of RPA1, RPA2 and RPA3, from resected double-strand breaks to allow their annealing and subsequent joining by MMEJ . Removal of RPA/RP-A complex proteins prevents RAD51 accumulation at resected ends, thereby inhibiting homology-recombination repair (HR) pathway . Also shows RNA-directed DNA polymerase activity to mediate DNA repair in vitro; however this activity needs additional evidence in vivo . May also have lyase activity . 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). POLQ-mediated end joining activity is involved in random integration of exogenous DNA hampers . .

AccessionsA0A804HJJ9
O75417
Q96SE4
ENST00000683498.1
ENST00000264233.6 [O75417-1]
Q9UI68