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Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006502 Homo sapiens polymerase (DNA directed), eta (POLH), mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

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RefSeq Version NM_006502.2, 170650686
Length 8412 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.
Product DNA polymerase eta
Comment

Summary: 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].

RefSeq NP_006493.1
CDS 305..2446
Misc Feature(1)299..301
Misc Feature(2)323..>1282
Misc Feature(3)323..>1282
Misc Feature(4)332..1588
Misc Feature(5)order(341..349,353..358,446..451,458..460,467..469,
Misc Feature(6)order(416..421,485..487,641..643,926..931,1253..1270,
Misc Feature(7)1439..1441
Misc Feature(8)1442..1444
Exon (1)1..300
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (2)301..441
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (3)442..576
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (4)577..794
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (5)795..964
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (6)965..1068
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (7)1069..1188
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (8)1189..1312
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (9)1313..1378
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (10)1379..1548
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Exon (11)1549..8412
Gene:POLH
Gene Synonym:RAD30; RAD30A; XP-V; XPV
Translation MATGQDRVVALVDMDCFFVQVEQRQNPHLRNKPCAVVQYKSWKGGGIIAVSYEARAFGVT RSMWADDAKKLCPDLLLAQVRESRGKANLTKYREASVEVMEIMSRFAVIERASIDEAYVD LTSAVQERLQKLQGQPISADLLPSTYIEGLPQGPTTAEETVQKEGMRKQGLFQWLDSLQI DNLTSPDLQLTVGAVIVEEMRAAIERETGFQCSAGISHNKVLAKLACGLNKPNRQTLVSH GSVPQLFSQMPIRKIRSLGGKLGASVIEILGIEYMGELTQFTESQLQSHFGEKNGSWLYA MCRGIEHDPVKPRQLPKTIGCSKNFPGKTALATREQVQWWLLQLAQELEERLTKDRNDND RVATQLVVSIRVQGDKRLSSLRRCCALTRYDAHKMSHDAFTVIKNCNTSGIQTEWSPPLT MLFLCATKFSASAPSSSTDITSFLSSDPSSLPKVPVTSSEAKTQGSGPAVTATKKATTSL ESFFQKAAERQKVKEASLSSLTAPTQAPMSNSPSKPSLPFQTSQSTGTEPFFKQKSLLLK QKQLNNSSVSSPQQNPWSNCKALPNSLPTEYPGCVPVCEGVSKLEESSKATPAEMDLAHN SQSMHASSASKSVLEVTQKATPNPSLLAAEDQVPCEKCGSLVPVWDMPEHMDYHFALELQ KSFLQPHSSNPQVVSAVSHQGKRNPKSPLACTNKRPRPEGMQTLESFFKPLTH
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Position Chain Variation Link
4+dbSNP:
4+a, cdbSNP:113460429
22+c, tdbSNP:111283508
31+a, cdbSNP:185054720
41+a, gdbSNP:28372856
42+c, tdbSNP:55865635
63+c, gdbSNP:56210561
104+g, tdbSNP:9333500
188+c, tdbSNP:56300149
207+a, cdbSNP:189835199
344+a, gdbSNP:61748656
418+a, gdbSNP:112203631
514+dbSNP:
514+g, tdbSNP:149295738
533+c, tdbSNP:199840329
545+c, tdbSNP:113074920
550+g, tdbSNP:77759052
607+dbSNP:
607+a, gdbSNP:200731198
634+a, gdbSNP:56239418
659+g, tdbSNP:138298839
675+c, tdbSNP:201090378
680+c, tdbSNP:121908563
717+c, tdbSNP:142827517
741+a, gdbSNP:146061840
744+a, tdbSNP:200366966
751+g, tdbSNP:2307464
770+a, gdbSNP:144449059
771+c, tdbSNP:139742736
804+dbSNP:
804+a, gdbSNP:201365711
829+c, tdbSNP:150901869
930+g, tdbSNP:2307456
956+a, cdbSNP:200691612
982+dbSNP:
982+c, tdbSNP:2307460
997+c, gdbSNP:77588969
1002+a, gdbSNP:61756403
1039+a, gdbSNP:202063884
1042+c, tdbSNP:145530456
1119+dbSNP:
1119+c, tdbSNP:147712217
1139..1140+, cdbSNP:35948863
1191+dbSNP:
1191+c, tdbSNP:200149644
1201+c, g, tdbSNP:190423114
1220+g, tdbSNP:121908562
1267+g, tdbSNP:78080414
1290+c, tdbSNP:35675573
1304+c, g, tdbSNP:9333548
1318+dbSNP:
1318+a, gdbSNP:75277317
1328+g, tdbSNP:200775544
1415+dbSNP:
1415+c, tdbSNP:147564503
1421+c, tdbSNP:121908564
1436+c, tdbSNP:61076173
1485+a, gdbSNP:149030396
1538+a, cdbSNP:143209023
1574+dbSNP:
1574+c, tdbSNP:185710017
1590+c, tdbSNP:151215715
1603+a, cdbSNP:140331414
1670+a, gdbSNP:201370314
1695+a, gdbSNP:145466144
1710+c, tdbSNP:200438344
1713+a, tdbSNP:200992939
1715..1716+, ccdbSNP:146762595
1715+a, cdbSNP:200223973
1737+c, tdbSNP:9296419
1738+a, gdbSNP:3734690
1777+a, gdbSNP:142864589
1795+a, gdbSNP:145050695
1876+a, cdbSNP:138752565
1907+a, gdbSNP:56307355
1917+c, tdbSNP:189022924
1923+a, gdbSNP:200162602
1945+g, tdbSNP:144858868
1960+c, gdbSNP:148589983
1995+c, tdbSNP:147968005
2049+c, tdbSNP:56213129
2055+c, tdbSNP:9333554
2070+a, cdbSNP:121908565
2075+a, cdbSNP:55682447
2087+a, gdbSNP:9333555
2101+a, cdbSNP:145172758
2119+c, tdbSNP:200935676
2166+c, tdbSNP:150956271
2200+a, cdbSNP:139476900
2243+a, tdbSNP:6941583
2256+c, tdbSNP:200496091
2263+c, tdbSNP:201357691
2302+c, tdbSNP:142899180
2311+a, gdbSNP:61756402
2328+a, cdbSNP:151095678
2332+c, tdbSNP:140971385
2343+a, gdbSNP:201964030
2347..2348+, adbSNP:34465701
2378+a, gdbSNP:199562456
2381+a, gdbSNP:146499197
2477+a, gdbSNP:201946729
2496..2501+, atctttdbSNP:113630429
2496+a, gdbSNP:1064260
2631+g, tdbSNP:180977176
2727..2728+, adbSNP:35976650
2736+c, tdbSNP:6899628
2817+a, gdbSNP:59061501
2875+a, gdbSNP:9333556
2983+c, tdbSNP:55704248
2992+g, tdbSNP:150227941
3045+c, tdbSNP:185601425
3085+a, gdbSNP:9333557
3128+a, gdbSNP:188596894
3139+c, tdbSNP:9333558
3323+a, gdbSNP:1137388
3337+a, gdbSNP:1141337
3398+c, tdbSNP:1141338
3501+a, tdbSNP:115129476
3556+a, tdbSNP:112725367
3573+a, tdbSNP:13218501
3575+a, tdbSNP:28877272
3576..3577+, adbSNP:70990201
3602+a, gdbSNP:9333560
3625+a, gdbSNP:9333561
3638+c, tdbSNP:7753247
3643+c, gdbSNP:7753249
3647+c, tdbSNP:9333562
3649+c, tdbSNP:7773594
3654+c, tdbSNP:7773595
3782+a, gdbSNP:9333563
3793+c, tdbSNP:149324075
3803+a, gdbSNP:9333564
3810+a, tdbSNP:9333565
3995+c, tdbSNP:186059509
4008..4009+, adbSNP:201071335
4032+a, gdbSNP:192075582
4125+c, tdbSNP:113292021
4183+a, gdbSNP:77681625
4224+c, tdbSNP:187426826
4304+a, gdbSNP:9472090
4476..4477+, aadbSNP:67382659
4489..4490+, a, aadbSNP:10700840
4597+a, gdbSNP:190641689
4715+c, tdbSNP:140288120
4887+c, tdbSNP:182931718
4899+c, tdbSNP:186745944
4935+c, tdbSNP:6922830
4945+a, gdbSNP:147353387
4953+c, tdbSNP:190036866
4959+a, tdbSNP:111841811
5027+c, tdbSNP:113782551
5105+c, tdbSNP:9462906
5115..5116+, aadbSNP:10701972
5178+c, tdbSNP:182665486
5347+c, tdbSNP:187347958
5421+a, cdbSNP:112207298
5429+c, tdbSNP:193166843
5570+a, gdbSNP:200723098
5629+c, tdbSNP:145333024
5636+a, gdbSNP:185429607
5670+c, tdbSNP:189150988
5684+c, tdbSNP:193130018
5696+a, gdbSNP:183729246
5764+a, gdbSNP:142340697
5806..5807+, adbSNP:59479917
5918+a, gdbSNP:146828890
5922+a, c, gdbSNP:6929140
5955+g, tdbSNP:200128731
6057+a, tdbSNP:73428626
6187+a, gdbSNP:188445411
6190+a, gdbSNP:181271522
6246+c, tdbSNP:184188381
6293+a, gdbSNP:145612937
6558+c, tdbSNP:189826940
6605+c, tdbSNP:182038252
6717+a, gdbSNP:56786163
6851..6852+, gggdbSNP:71938268
6851+, gdbSNP:113334564
6860..6861+, g, gggdbSNP:55760315
7073+c, tdbSNP:9357417
7087+a, gdbSNP:1136319
7169+a, cdbSNP:34772955
7180+a, gdbSNP:192191937
7214+a, gdbSNP:181984888
7254..7268+, aaaaaaaaaaaaaaadbSNP:61401394
7254..7267+, aaaaaaaaaaaaaadbSNP:60046548
7254+, aaaa, aaaaa, aaaaaaaaaadbSNP:72046171
7262+a, cdbSNP:113913029
7348+a, gdbSNP:61536735
7405+a, tdbSNP:185032976
7546+c, tdbSNP:189887692
7605+c, gdbSNP:146552671
7610+c, tdbSNP:182401803
7942+a, gdbSNP:140386222
8076+a, gdbSNP:116106873
8143+a, gdbSNP:113410952
8159+c, tdbSNP:75658777
8177+c, tdbSNP:187080217
8224+c, tdbSNP:191478775
8341+a, gdbSNP:183584697
8345+c, gdbSNP:188520156
8382+, adbSNP:200163087
Gene SymbolPOLH
Gene SynonymRAD30; RAD30A; XP-V; XPV
Chromosome6
Locus Map6p21.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006502 Homo sapiens polymerase (DNA directed), eta (POLH), mRNA. On-demand $849.00 20
Title Ubiquitin mediates the physical and functional interaction between human DNA polymerases eta and iota .
Author McIntyre,J., Vidal,A.E., McLenigan,M.P., Bomar,M.G., Curti,E., McDonald,J.P., Plosky,B.S., Ohashi,E. and Woodgate,R.
Journal Nucleic Acids Res. 41 (3), 1649-1660 (2013)
Title GCN5 protects vertebrate cells against UV-irradiation via controlling gene expression of DNA polymerase eta .
Author Kikuchi,H., Kuribayashi,F., Imajoh-Ohmi,S., Nishitoh,H., Takami,Y. and Nakayama,T.
Journal J. Biol. Chem. 287 (47), 39842-39849 (2012)
Title Intrinsic flexibility of ubiquitin on proliferating cell nuclear antigen (PCNA) in translesion synthesis .
Author Hibbert,R.G. and Sixma,T.K.
Journal J. Biol. Chem. 287 (46), 39216-39223 (2012)
Title Down-regulation of Poleta expression leads to increased DNA damage, apoptosis and enhanced S phase arrest in L-02 cells exposed to hydroquinone .
Author Hu,G., Huang,H., Yang,L., Zhong,C., Xia,B., Yang,Y., Liu,J., Wu,D., Liu,Q. and Zhuang,Z.
Journal Toxicol. Lett. 214 (2), 209-217 (2012)
Title The C-terminal domain of human Rev1 contains independent binding sites for DNA polymerase eta and Rev7 subunit of polymerase zeta .
Author Pustovalova,Y., Bezsonova,I. and Korzhnev,D.M.
Journal FEBS Lett. 586 (19), 3051-3056 (2012)
Title Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene .
Author Yuasa,M., Masutani,C., Eki,T. and Hanaoka,F.
Journal Oncogene 19 (41), 4721-4728 (2000)
Title Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta .
Author Yamada,A., Masutani,C., Iwai,S. and Hanaoka,F.
Journal Nucleic Acids Res. 28 (13), 2473-2480 (2000)
Title Mechanisms of accurate translesion synthesis by human DNA polymerase eta .
Author Masutani,C., Kusumoto,R., Iwai,S. and Hanaoka,F.
Journal EMBO J. 19 (12), 3100-3109 (2000)
Title hRAD30 mutations in the variant form of xeroderma pigmentosum .
Author Johnson,R.E., Kondratick,C.M., Prakash,S. and Prakash,L.
Journal Science 285 (5425), 263-265 (1999)
Title The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta .
Author Masutani,C., Kusumoto,R., Yamada,A., Dohmae,N., Yokoi,M., Yuasa,M., Araki,M., Iwai,S., Takio,K. and Hanaoka,F.
Journal Nature 399 (6737), 700-704 (1999)


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