| Gene Symbol |
POLH
|
| Entrez Gene |
5429
|
| Alt Symbol |
RAD30, RAD30A, XP-V, XPV
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
polymerase (DNA directed), eta
|
| Other Description |
DNA polymerase eta|RAD30 homolog A|xeroderma pigmentosum variant type protein
|
| Swissprots |
Q9Y253 Q9BX13 Q96BC4 Q7L8E3
|
| Accessions |
AAQ81300 ACQ91143 BAB18601 EAX04209 EAX04210 EAX04211 EAX04212 Q9Y253 AB024313 BAA81666 AF158185 AAD43810 AF241258 AJ420484 AK023893 BAG51237 AK025631 AK122807 BAG53738 AK294430 BAG57675 AK307660 AK316151 BAH14522 BC015742 AAH15742 DC416114 XM_005249186 XP_005249243 XM_011514698 XP_011513000 NM_001291969 NP_001278898 NM_001291970 NP_001278899 NM_006502 NP_006493
|
| Function |
DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to replication foci. {ECO:0000269|PubMed:10385124, ECO:0000269|PubMed:11376341, ECO:0000269|PubMed:11743006, ECO:0000269|PubMed:14630940, ECO:0000269|PubMed:14734526}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:12606586}. Note=Accumulates at replication forks after DNA damage.
|
| Top Pathways |
Fanconi anemia pathway
|