| Gene Symbol |
POLQ
|
| Entrez Gene |
10721
|
| Alt Symbol |
POLH, PRO0327
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
polymerase (DNA directed), theta
|
| Other Description |
DNA polymerase eta|DNA polymerase theta
|
| Swissprots |
Q6VMB5 O75417 O95160
|
| Accessions |
EAW79510 EAW79511 EAW79512 EAW79513 EAW79514 O75417 AA767021 AB209867 BAD93104 AF043628 AAD05272 AF052573 AAC33565 AF090919 AAF24036 AW021928 AY032677 AAK39635 AY338826 AAR08421 BC034254 BC172289 AAI72289 BP365212 CR936627 CAI56770 XM_011512343 XP_011510645 XM_011512344 XP_011510646 XM_011512345 XP_011510647 XM_011512346 XP_011510648 XM_011512347 XP_011510649 XM_011512348 XP_011510650 XM_011512349 XP_011510651 XM_011512350 XP_011510652 XM_011512351 XP_011510653 XM_011512352 XP_011510654 XM_011512353 XP_011510655 XM_011512354 XP_011510656 XR_924091 XR_924092 XR_924093 NM_199420 NP_955452
|
| 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-
|
| Subcellular Location |
Nucleus {ECO:0000250|UniProtKB:O18475}. Chromosome {ECO:0000269|PubMed:25642963}. 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}.
|
| Tissue Specificity |
Highly expressed in testis. {ECO:0000269|PubMed:14576298}.
|