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Database:

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Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006502 Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

RefSeq Version NM_006502.2, 170650686
Length 8412 bp
Structure linear
Update Date 14-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 1, mRNA.
Product DNA polymerase eta isoform 1
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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

RefSeq NP_006493.1
CDS 305..2446
Misc Feature(1)299..301
Misc Feature(2)323..>1366
Misc Feature(3)323..>1366
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..643,1082..1087,1253..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
complement(41)-g, adbSNP:28372856
42+c, tdbSNP:55865635
63+c, gdbSNP:56210561
104+a, g, tdbSNP:9333500
152..153+, agdbSNP:376188104
188+c, tdbSNP:56300149
207+a, cdbSNP:189835199
244+a, gdbSNP:371171086
344+a, gdbSNP:61748656
384+c, tdbSNP:376606785
394+g, tdbSNP:368375817
406+g, tdbSNP:371810027
418+a, gdbSNP:112203631
430+c, gdbSNP:374515054
514+dbSNP:
514+g, tdbSNP:149295738
533+c, tdbSNP:199840329
536+a, gdbSNP:372613817
545+c, tdbSNP:113074920
546+a, gdbSNP:370219191
550+g, tdbSNP:77759052
607+dbSNP:
607+a, gdbSNP:200731198
623+c, gdbSNP:370592983
634+a, gdbSNP:56239418
635+c, tdbSNP:375000061
659+g, tdbSNP:138298839
675+c, tdbSNP:201090378
680+c, tdbSNP:121908563
691+a, gdbSNP:370505776
717+c, tdbSNP:142827517
741+a, gdbSNP:146061840
744+a, tdbSNP:200366966
751+g, tdbSNP:2307464
762+a, gdbSNP:367709714
770+a, gdbSNP:144449059
771+c, tdbSNP:139742736
804+dbSNP:
804+a, gdbSNP:201365711
829+c, tdbSNP:150901869
866+c, tdbSNP:368152403
877+c, tdbSNP:369844648
930+g, tdbSNP:2307456
956+a, cdbSNP:200691612
982+dbSNP:
982+c, tdbSNP:2307460
997+c, gdbSNP:77588969
1002+a, gdbSNP:61756403
1023+a, gdbSNP:370185041
1039+a, gdbSNP:202063884
1042+c, tdbSNP:145530456
1054+g, tdbSNP:373892236
1119+dbSNP:
1119+c, tdbSNP:147712217
1139..1140+, cdbSNP:35948863
1191+dbSNP:
1191+c, tdbSNP:200149644
1201+c, g, tdbSNP:190423114
1206+c, tdbSNP:371652391
1220+g, tdbSNP:121908562
complement(1267)-t, gdbSNP:78080414
1290+c, tdbSNP:35675573
1304+c, g, tdbSNP:9333548
1318+dbSNP:
1318+a, gdbSNP:75277317
1328+c, g, tdbSNP:200775544
1415+dbSNP:
1415+c, tdbSNP:147564503
1421+c, tdbSNP:121908564
1436+c, tdbSNP:61076173
1467+a, cdbSNP:370443606
1485+a, gdbSNP:149030396
1538+a, cdbSNP:143209023
1574+dbSNP:
1574+c, tdbSNP:185710017
1590+c, tdbSNP:151215715
1596+c, tdbSNP:371232897
1603+a, cdbSNP:140331414
1622+a, gdbSNP:374429274
1643+c, gdbSNP:374013324
1670+a, gdbSNP:201370314
1695+a, gdbSNP:145466144
1710+c, tdbSNP:200438344
1713+a, tdbSNP:200992939
1715..1716+, ccdbSNP:146762595
1715+a, cdbSNP:200223973
1722+c, tdbSNP:372912165
1737+c, tdbSNP:9296419
1738+a, gdbSNP:3734690
1777+a, gdbSNP:142864589
1795+a, gdbSNP:145050695
1809+c, tdbSNP:367776007
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
2022+a, gdbSNP:376174361
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
2185+a, tdbSNP:373634834
2200+a, cdbSNP:139476900
2233+a, gdbSNP:375261104
2243+a, tdbSNP:6941583
2256+c, tdbSNP:200496091
2263+c, tdbSNP:201357691
2269+c, tdbSNP:369800100
2294+c, tdbSNP:373529999
2302+c, tdbSNP:142899180
2311+a, gdbSNP:61756402
2313+a, gdbSNP:377690160
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
2770+a, cdbSNP:372506540
2817+a, gdbSNP:59061501
2875+a, gdbSNP:9333556
2983+c, tdbSNP:55704248
2992+g, tdbSNP:150227941
3001+a, gdbSNP:370285657
3045+c, tdbSNP:185601425
3085+a, gdbSNP:9333557
3128+a, gdbSNP:188596894
3139+c, tdbSNP:9333558
3272+a, cdbSNP:376084025
3323+a, gdbSNP:1137388
3337+a, gdbSNP:1141337
3398+c, tdbSNP:1141338
3467+a, gdbSNP:370730946
3501+a, tdbSNP:115129476
3556+a, tdbSNP:112725367
3573+a, tdbSNP:13218501
3575+a, tdbSNP:28877272
complement(3580..3581)-, 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
3794+a, tdbSNP:368493196
3803+a, gdbSNP:9333564
3810+a, tdbSNP:9333565
3995+c, tdbSNP:186059509
4008..4009+, adbSNP:201071335
4032+a, gdbSNP:192075582
4094+a, gdbSNP:372836415
4125+c, tdbSNP:113292021
4183+a, gdbSNP:77681625
4204+g, tdbSNP:367657030
4224+c, tdbSNP:187426826
4304+a, gdbSNP:9472090
4475..4476+, adbSNP:368089629
4510+a, gdbSNP:376837845
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
5159+g, tdbSNP:375493465
5178+c, tdbSNP:182665486
5347+c, tdbSNP:187347958
5421+a, cdbSNP:112207298
5429+c, tdbSNP:193166843
5497+a, cdbSNP:369829719
5534+a, gdbSNP:373844625
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
5818..5819+, adbSNP:397944590
complement(5918)-g, adbSNP:146828890
5922+a, c, gdbSNP:6929140
5955+g, tdbSNP:200128731
6028+c, gdbSNP:375952249
6044..6046+, tatdbSNP:372889587
6057+a, tdbSNP:73428626
6077+a, gdbSNP:368674951
6101+c, gdbSNP:369125571
6187+a, gdbSNP:188445411
6190+a, gdbSNP:181271522
6199+c, tdbSNP:373349453
6246+c, tdbSNP:184188381
6263..6266+, tctadbSNP:377238643
6293+a, gdbSNP:145612937
6558+c, tdbSNP:189826940
6559+a, gdbSNP:377498754
6605+c, tdbSNP:182038252
6717+a, gdbSNP:56786163
6851..6852+, gdbSNP:371045311
6851+, gdbSNP:113334564
6860..6861+, g, gggdbSNP:55760315
6932+a, gdbSNP:375824382
7073+c, tdbSNP:9357417
7087+a, gdbSNP:1136319
7168+c, gdbSNP:370467223
7169+a, cdbSNP:34772955
7180+a, gdbSNP:192191937
7214+a, gdbSNP:181984888
7262+a, cdbSNP:113913029
7269..7283+, aaaaaaaaaaaaaaadbSNP:61401394
7270..7283+, aaaaaaaaaaaaaadbSNP:60046548
7305+a, gdbSNP:373022227
7348+a, gdbSNP:61536735
7405+a, tdbSNP:185032976
7460+g, tdbSNP:374875647
7546+c, tdbSNP:189887692
complement(7605)-g, cdbSNP:146552671
7610+c, tdbSNP:182401803
7878+c, tdbSNP:376263272
7942+a, gdbSNP:140386222
8032+c, gdbSNP:370915124
8076+a, gdbSNP:116106873
8143+a, gdbSNP:113410952
8146+a, gdbSNP:368293597
8159+c, tdbSNP:75658777
8177+c, tdbSNP:187080217
8192+a, gdbSNP:375299121
8205+a, gdbSNP:369035871
8224+c, tdbSNP:191478775
8339+c, gdbSNP:375499031
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), transcript variant 1, mRNA. On-demand $849.00 20
NM_001291969 Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 2, mRNA. On-demand $849.00 20
NM_001291970 Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 3, mRNA. On-demand $549.00 14
XM_005249186 PREDICTED: Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant X1, mRNA. On-demand $849.00 20
XM_006715118 PREDICTED: Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant X2, mRNA. On-demand $699.00 18
Title TRIP/NOPO E3 ubiquitin ligase promotes ubiquitylation of DNA polymerase eta .
Author Wallace HA, Merkle JA, Yu MC, Berg TG, Lee E, Bosco G and Lee LA.
Journal Development 141 (6), 1332-1341 (2014)
Title Human Pol zeta purified with accessory subunits is active in translesion DNA synthesis and complements Pol eta in cisplatin bypass .
Author Lee YS, Gregory MT and Yang W.
Journal Proc. Natl. Acad. Sci. U.S.A. 111 (8), 2954-2959 (2014)
Title Translesion synthesis of 8,5'-cyclopurine-2'-deoxynucleosides by .
Author You C, Swanson AL, Dai X, Yuan B, Wang J and Wang Y.
Journal J. Biol. Chem. 288 (40), 28548-28556 (2013)
Title Mutation of the little finger domain in human DNA polymerase eta alters fidelity when copying undamaged DNA .
Author Beardslee RA, Suarez SC, Toffton SM and McCulloch SD.
Journal Environ. Mol. Mutagen. 54 (8), 638-651 (2013)
Title DNA-damage tolerance mediated by PCNA*Ub fusions in human cells is dependent on Rev1 but not Poleta .
Author Qin Z, Lu M, Xu X, Hanna M, Shiomi N and Xiao W.
Journal Nucleic Acids Res. 41 (15), 7356-7369 (2013)
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 RE, Kondratick CM, 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)
Title Xeroderma Pigmentosum .
Author Kraemer,K.H. and DiGiovanna,J.J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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