Homo sapiens L. (human) [HSA]

FULL NAME: DNA polymerase eta


DESCRIPTION:
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.
DNA polymerase eta (Pol η) 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 Variant. Polymerase eta is particularly important for allowing accurate translesion synthesis of DNA damage resulting from ultraviolet radiation or UV.

STRUCTURE SIMILARITY:
Belongs to the DNA polymerase type-Y family.
Contains 1 umuC domain.


CATALYTIC ACTIVITY:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).


PROTEIN TYPE(S):
Y-family DNA polymerase


RELATED PATHWAY(S):
Fanconi anemia (FA) pathway
translesion synthesis (TLS)


RELATED DISEASE(S):
xeroderma pigmentosum, VARIANT type (XPV)


Amino acids sequence

        10         20         30         40         50         60
MATGQDRVVA LVDMDCFFVQ VEQRQNPHLR NKPCAVVQYK SWKGGGIIAV SYEARAFGVT
        70         80         90        100        110        120
RSMWADDAKK LCPDLLLAQV RESRGKANLT KYREASVEVM EIMSRFAVIE RASIDEAYVD
       130        140        150        160        170        180
LTSAVQERLQ KLQGQPISAD LLPSTYIEGL PQGPTTAEET VQKEGMRKQG LFQWLDSLQI
       190        200        210        220        230        240
DNLTSPDLQL TVGAVIVEEM RAAIERETGF QCSAGISHNK VLAKLACGLN KPNRQTLVSH
       250        260        270        280        290        300
GSVPQLFSQM PIRKIRSLGG KLGASVIEIL GIEYMGELTQ FTESQLQSHF GEKNGSWLYA
       310        320        330        340        350        360
MCRGIEHDPV KPRQLPKTIG CSKNFPGKTA LATREQVQWW LLQLAQELEE RLTKDRNDND
       370        380        390        400        410        420
RVATQLVVSI RVQGDKRLSS LRRCCALTRY DAHKMSHDAF TVIKNCNTSG IQTEWSPPLT
       430        440        450        460        470        480
MLFLCATKFS ASAPSSSTDI TSFLSSDPSS LPKVPVTSSE AKTQGSGPAV TATKKATTSL
       490        500        510        520        530        540
ESFFQKAAER QKVKEASLSS LTAPTQAPMS NSPSKPSLPF QTSQSTGTEP FFKQKSLLLK
       550        560        570        580        590        600
QKQLNNSSVS SPQQNPWSNC KALPNSLPTE YPGCVPVCEG VSKLEESSKA TPAEMDLAHN
       610        620        630        640        650        660
SQSMHASSAS KSVLEVTQKA TPNPSLLAAE DQVPCEKCGS LVPVWDMPEH MDYHFALELQ
       670        680        690        700        710
KSFLQPHSSN PQVVSAVSHQ GKRNPKSPLA CTNKRPRPEG MQTLESFFKP LTH

Encoded by POLH gene

FULL NAME: polymerase (DNA directed), eta


OTHER NAME(S):
FLJ16395
FLJ21978
RAD30
RAD30A
XP-V
XPV


DESCRIPTION:
This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggctactg gacaggatcg agtggttgct ctcgtggaca tggactgttt ttttgttcaa
        70         80         90        100        110        120
gtggagcagc ggcaaaatcc tcatttgagg aataaacctt gtgcagttgt acagtacaaa
       130        140        150        160        170        180
tcatggaagg gtggtggaat aattgcagtg agttatgaag ctcgtgcatt tggagtcact
       190        200        210        220        230        240
agaagtatgt gggcagatga tgctaagaag ttatgtccag atcttctact ggcacaagtt
       250        260        270        280        290        300
cgtgagtccc gtgggaaagc taacctcacc aagtaccggg aagccagtgt tgaagtgatg
       310        320        330        340        350        360
gagataatgt ctcgttttgc tgtgattgaa cgtgccagca ttgatgaggc ttacgtagat
       370        380        390        400        410        420
ctgaccagtg ctgtacaaga gagactacaa aagctacaag gtcagcctat ctcggcagac
       430        440        450        460        470        480
ttgttgccaa gcacttacat tgaagggttg ccccaaggcc ctacaacggc agaagagact
       490        500        510        520        530        540
gttcagaaag aggggatgcg aaaacaaggc ttatttcaat ggctcgattc tcttcagatt
       550        560        570        580        590        600
gataacctca cctctccaga cctgcagctc accgtgggag cagtgattgt ggaggaaatg
       610        620        630        640        650        660
agagcagcca tagagaggga gactggtttt cagtgttcag ctggaatttc acacaataag
       670        680        690        700        710        720
gtcctggcaa aactggcctg tggactaaac aagcccaacc gccaaaccct ggtttcacat
       730        740        750        760        770        780
gggtcagtcc cacagctctt cagccaaatg cccattcgca aaatccgtag tcttggagga
       790        800        810        820        830        840
aagctagggg cctctgtcat tgagatccta gggatagaat acatgggtga actgacccag
       850        860        870        880        890        900
ttcactgaat cccagctcca gagtcatttt ggggagaaga atgggtcttg gctatatgcc
       910        920        930        940        950        960
atgtgccgag ggattgaaca tgatccagtt aaacccaggc aactacccaa aaccattggc
       970        980        990       1000       1010       1020
tgtagtaaga acttcccagg aaaaacagct cttgctactc gggaacaggt acaatggtgg
      1030       1040       1050       1060       1070       1080
ctgttgcaat tagcccagga actagaggag agactgacta aagaccgaaa tgataatgac
      1090       1100       1110       1120       1130       1140
agggtagcca cccagctggt tgtgagcatt cgtgtacaag gagacaaacg cctcagcagc
      1150       1160       1170       1180       1190       1200
ctgcgccgct gctgtgccct tacccgctat gatgctcaca agatgagcca tgatgcattt
      1210       1220       1230       1240       1250       1260
actgtcatca agaactgtaa tacttctgga atccagacag aatggtctcc tcctctcaca
      1270       1280       1290       1300       1310       1320
atgcttttcc tctgtgctac aaaattttct gcctctgccc cttcatcttc tacagacatc
      1330       1340       1350       1360       1370       1380
accagcttct tgagcagtga cccaagttct ctgccaaagg tgccagttac cagctcagaa
      1390       1400       1410       1420       1430       1440
gctaagaccc agggaagtgg cccagcggtg acagccacta agaaagcaac cacgtctctg
      1450       1460       1470       1480       1490       1500
gaatcattct tccaaaaagc tgcagaaagg cagaaagtta aagaagcttc gctttcatct
      1510       1520       1530       1540       1550       1560
cttactgctc ccactcaggc tcccatgagc aattcaccat ccaagccctc attacctttt
      1570       1580       1590       1600       1610       1620
caaaccagtc aaagtacagg aactgagccc ttctttaagc agaaaagtct gcttctaaag
      1630       1640       1650       1660       1670       1680
cagaaacagc ttaataattc ttcagtttct tccccccaac aaaacccatg gtccaactgt
      1690       1700       1710       1720       1730       1740
aaagcattac caaactcttt accaacagag tatccagggt gtgtccctgt ttgtgaaggg
      1750       1760       1770       1780       1790       1800
gtgtcgaagc tagaagaatc ctctaaagca actcctgcag agatggattt ggcccacaac
      1810       1820       1830       1840       1850       1860
agccaaagca tgcacgcctc ttcagcttcc aaatctgtgc tggaggtgac tcagaaagca
      1870       1880       1890       1900       1910       1920
accccaaatc caagtcttct agctgctgag gaccaagtgc cctgtgagaa gtgtggctcc
      1930       1940       1950       1960       1970       1980
ctggtaccgg tatgggatat gccagaacac atggactatc attttgcatt ggagttgcag
      1990       2000       2010       2020       2030       2040
aaatcctttt tgcagcccca ctcttcaaac ccccaggttg tttctgccgt atctcatcaa
      2050       2060       2070       2080       2090       2100
ggcaaaagaa atcccaagag ccctttggcc tgcactaata aacgccccag gcctgagggc
      2110       2120       2130       2140
atgcaaacat tggaatcatt ttttaagcca ttaacacatt ag 

Last modification date: Oct. 2, 2011