DNA polymerase eta

POLH
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPOLH, RAD30, RAD30A, XP-V, XPV, DNA polymerase eta, polymerase (DNA) eta
External IDsOMIM: 603968; MGI: 1891457; HomoloGene: 38189; GeneCards: POLH; OMA:POLH - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001291969
NM_001291970
NM_006502

NM_030715
NM_001364947

RefSeq (protein)

NP_001278898
NP_001278899
NP_006493

NP_109640
NP_001351876

Location (UCSC)Chr 6: 43.58 – 43.62 MbChr 17: 46.48 – 46.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DNA polymerase eta (Pol η), is a protein that in humans is encoded by the POLH gene.[5][6][7]

DNA polymerase eta is a eukaryotic DNA polymerase involved in the DNA repair by translesion synthesis. The gene encoding DNA polymerase eta is POLH, also known as XPV, because loss of this gene results in the disease xeroderma pigmentosum. Polymerase eta is particularly important for allowing accurate translesion synthesis of DNA damage resulting from ultraviolet radiation or UV.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170734Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023953Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: POLH polymerase (DNA directed), eta".
  6. ^ Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F (June 1999). "The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta". Nature. 399 (6737): 700–4. Bibcode:1999Natur.399..700M. doi:10.1038/21447. PMID 10385124. S2CID 4429698.
  7. ^ Johnson RE, Kondratick CM, Prakash S, Prakash L (July 1999). "hRAD30 mutations in the variant form of xeroderma pigmentosum". Science. 285 (5425): 263–5. doi:10.1126/science.285.5425.263. PMID 10398605.