Sequence in raw or FASTA format:
Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.
| RefSeq Version | NM_006231.2, 62198236 |
| Length | 7859 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. |
| Product | DNA polymerase epsilon catalytic subunit A |
| Comment | COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from L09561.1, S60080.1 and BC011376.1. On Apr 5, 2005 this sequence version replaced gi:5453925. |
| RefSeq | NP_006222.2 |
| CDS | 45..6905 | Exon (1) | 1..106 | Exon (2) | 1..106 | Exon (3) | 107..248 | Exon (4) | 249..329 | Exon (5) | 330..374 | Exon (6) | 375..467 | Exon (7) | 468..622 | Exon (8) | 623..764 | Exon (9) | 765..845 | Exon (10) | 846..953 | Exon (11) | 954..1064 | Exon (12) | 1065..1150 | Exon (13) | 1151..1270 | Exon (14) | 1271..1403 | Exon (15) | 1404..1517 | Exon (16) | 1518..1730 | Exon (17) | 1731..1838 | Exon (18) | 1839..1967 | Exon (19) | 1968..2070 | Exon (20) | 2071..2217 | Exon (21) | 2218..2363 | Exon (22) | 2364..2512 | Exon (23) | 2513..2605 | Exon (24) | 2606..2750 | Exon (25) | 2751..2908 | Exon (26) | 2909..3104 | Exon (27) | 3105..3319 | Exon (28) | 3320..3422 | Exon (29) | 3423..3503 | Exon (30) | 3504..3626 | Exon (31) | 3627..3839 | Exon (32) | 3840..4049 | Exon (33) | 4050..4193 | Exon (34) | 4194..4334 | Exon (35) | 4335..4488 | Exon (36) | 4489..4595 | Exon (37) | 4596..4772 | Exon (38) | 4773..4996 | Exon (39) | 4997..5217 | Exon (40) | 5218..5422 | Exon (41) | 5423..5596 | Exon (42) | 5597..5722 | Exon (43) | 5723..5855 | Exon (44) | 5856..6048 | Exon (45) | 6049..6180 | Exon (46) | 6181..6374 | Exon (47) | 6375..6575 | Exon (48) | 6576..6701 | Exon (49) | 6702..6791 | Exon (50) | 6792..7840 |
| Translation | MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKT
GWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFL
SKKFQGKIAKVETVPKEDLDLPNHLVGLKRNYIRLSFHTVEDLVKVRKEISPAVKKNREQ
DHASDAYTALLSSVLQRGGVITDEEETSKKIADQLDNIVDMREYDVPYHIRLSIDLKIHV
AHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTKLPLKFPDAETDQIMMISYMI
DGQGYLITNREIVSEDIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEHVQETKPTIMV
TYNGDFFDWPFVEARAAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVG
SHNLKAAAKAKLGYDPVELDPEDMCRMATEQPQTLATYSVSDAVATYYLYMKYVHPFIFA
LCTIIPMEPDEVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFNKLTDDGHVLDSETYV
GGHVEALESGVFRSDIPCRFRMNPAAFDFLLQRVEKTLRHALEEEEKVPVEQVTNFEEVC
DEIKSKLASLKDVPSRIECPLIYHLDVGAMYPNIILTNRLQPSAMVDEATCAACDFNKPG
ANCQRKMAWQWRGEFMPASRSEYHRIQHQLESEKFPPLFPEGPARAFHELSREEQAKYEK
RRLADYCRKAYKKIHITKVEERLTTICQRENSFYVDTVRAFRDRRYEFKGLHKVWKKKLS
AAVEVGDAAEVKRCKNMEVLYDSLQLAHKCILNSFYGYVMRKGARWYSMEMAGIVCFTGA
NIITQARELIEQIGRPLELDTDGIWCVLPNSFPENFVFKTTNVKKPKVTISYPGAMLNIM
VKEGFTNDQYQELAEPSSLTYVTRSENSIFFEVDGPYLAMILPASKEEGKKLKKRYAVFN
EDGSLAELKGFEVKRRGELQLIKIFQSSVFEAFLKGSTLEEVYGSVAKVADYWLDVLYSK
AANMPDSELFELISENRSMSRKLEDYGEQKSTSISTAKRLAEFLGDQMVKDAGLSCRYII
SRKPEGSPVTERAIPLAIFQAEPTVRKHFLRKWLKSSSLQDFDIRAILDWDYYIERLGSA
IQKIITIPAALQQVKNPVPRVKHPDWLHKKLLEKNDVYKQKKISELFTLEGRRQVTMAEA
SEDSPRPSAPDMEDFGLVKLPHPAAPVTVKRKRVLWESQEESQDLTPTVPWQEILGQPPA
LGTSQEEWLVWLRFHKKKWQLQARQRLARRKRQRLESAEGVLRPGAIRDGPATGLGSFLR
RTARSILDLPWQIVQISETSQAGLFRLWALVGSDLHCIRLSIPRVFYVNQRVAKAEEGAS
YRKVNRVLPRSNMVYNLYEYSVPEDMYQEHINEINAELSAPDIEGVYETQVPLLFRALVH
LGCVCVVNKQLVRHLSGWEAETFALEHLEMRSLAQFSYLEPGSIRHIYLYHHAQAHKALF
GIFIPSQRRASVFVLDTVRSNQMPSLGALYSAEHGLLLEKVGPELLPPPKHTFEVRAETD
LKTICRAIQRFLLAYKEERRGPTLIAVQSSWELKRLASEIPVLEEFPLVPICVADKINYG
VLDWQRHGARRMIRHYLNLDTCLSQAFEMSRYFHIPIGNLPEDISTFGSDLFFARHLQRH
NHLLWLSPTARPDLGGKEADDNCLVMEFDDQATVEINSSGCYSTVCVELDLQNLAVNTIL
QSHHVNDMEGADSMGISFDVIQQASLEDMITGGQAASAPASYDETALCSNTFRILKSMVV
GWVKEITQYHNIYADNQVMHFYRWLRSPSSLLHDPALHRTLHNMMKKLFLQLIAEFKRLG
SSVIYANFNRIILCTKKRRVEDAIAYVEYITSSIHSKETFHSLTISFSRCWEFLLWMDPS
NYGGIKGKVSSRIHCGLQDSQKAGGAEDEQENEDDEEERDGEEEEEAEESNVEDLLENNW
NILQFLPQAASCQNYFLMIVSAYIVAVYHCMKDGLRRSAPGSTPVRRRGASQLSQEAEGA
VGALPGMITFSQDYVANELTQSFFTITQKIQKKVTGSRNSTELSEMFPVLPGSHLLLNNP
ALEFIKYVCKVLSLDTNITNQVNKLNRDLLRLVDVGEFSEEAQFRDPCRSYVLPEVICRS
CNFCRDLDLCKDSSFSEDGAVLPQWLCSNCQAPYDSSAIEMTLVEVLQKKLMAFTLQDLV
CLKCRGVKETSMPVYCSCAGDFALTIHTQVFMEQIGIFRNIAQHYGMSYLLETLEWLLQK
NPQLGH
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| Position | Chain | Variation | Link |
| complement(116) | - | g, a | dbSNP:61751359 |
| complement(135) | - | c, a | dbSNP:34047482 |
| 167 | + | a, g | dbSNP:5744734 |
| complement(198) | - | g, a | dbSNP:115452881 |
| complement(206) | - | t, c | dbSNP:112796325 |
| complement(290) | - | t, c | dbSNP:61751358 |
| 340 | + | c, t | dbSNP:5744739 |
| complement(487) | - | t, a | dbSNP:12315832 |
| complement(590) | - | g, a | dbSNP:115257501 |
| 799 | + | c, t | dbSNP:5744751 |
| complement(820) | - | t, c | dbSNP:61732929 |
| 823 | + | a, g | dbSNP:5744752 |
| complement(841) | - | c, a | dbSNP:115786159 |
| 890 | + | c, t | dbSNP:5744758 |
| complement(999) | - | t, c | dbSNP:116162724 |
| 1051 | + | a, g | dbSNP:5744760 |
| complement(1353) | - | c, a | dbSNP:115047349 |
| complement(1367) | - | t, c | dbSNP:116573514 |
| 1514 | + | c, t | dbSNP:5744777 |
| complement(1529) | - | t, c | dbSNP:116062148 |
| complement(1578) | - | t, c | dbSNP:113998091 |
| complement(1618) | - | t, c | dbSNP:74878897 |
| complement(1627) | - | g, a | dbSNP:116263919 |
| complement(1640) | - | g, a | dbSNP:114978673 |
| complement(1689) | - | g, a | dbSNP:115558715 |
| complement(1746) | - | t, c | dbSNP:115340410 |
| complement(1779) | - | g, a | dbSNP:116260568 |
| complement(1784) | - | g, a | dbSNP:114972594 |
| complement(1880) | - | g, a | dbSNP:116456858 |
| complement(1993) | - | g, a | dbSNP:115559742 |
| complement(2077) | - | g, a | dbSNP:116719126 |
| complement(2097) | - | g, a | dbSNP:116326665 |
| 2127 | + | a, t | dbSNP:5744799 |
| 2133 | + | c, t | dbSNP:5744800 |
| complement(2134) | - | g, c | dbSNP:36120395 |
| 2150 | + | g, t | dbSNP:5744801 |
| complement(2174) | - | c, a | dbSNP:77327458 |
| complement(2179) | - | t, c | dbSNP:115225325 |
| complement(2192) | - | t, c | dbSNP:115142739 |
| complement(2215) | - | g, a | dbSNP:61734163 |
| complement(2269) | - | t, c | dbSNP:116360781 |
| 2384 | + | a, g | dbSNP:5744822 |
| complement(2390) | - | g, a | dbSNP:114642756 |
| 2594 | + | c, t | dbSNP:5744834 |
| complement(2646) | - | g, a | dbSNP:115830215 |
| 2972 | + | c, t | dbSNP:5744845 |
| complement(2979) | - | g, a | dbSNP:56081968 |
| complement(3018) | - | t, c | dbSNP:115193764 |
| 3170 | + | a, g | dbSNP:5744856 |
| 3200 | + | a, g | dbSNP:5744857 |
| complement(3376) | - | c, a | dbSNP:114315196 |
| 3533 | + | c, t | dbSNP:5744888 |
| complement(3601) | - | g, a | dbSNP:112099123 |
| complement(3762) | - | t, c | dbSNP:113594027 |
| complement(3791) | - | t, c | dbSNP:80290414 |
| complement(3925) | - | t, c | dbSNP:115455318 |
| complement(3945) | - | t, c | dbSNP:112098447 |
| complement(3956) | - | g, a | dbSNP:116482376 |
| 4188 | + | c, t | dbSNP:5744904 |
| 4228 | + | a, g | dbSNP:5744933 |
| 4231 | + | a, g | dbSNP:5744934 |
| 4239 | + | c, g | dbSNP:5744935 |
| 4303 | + | c, t | dbSNP:41561818 |
| complement(4406) | - | g, a | dbSNP:115568973 |
| complement(4456) | - | t, c | dbSNP:113809231 |
| 4520 | + | c, t | dbSNP:5744943 |
| 4574 | + | a, g | dbSNP:5744944 |
| complement(4585) | - | g, a | dbSNP:116742454 |
| complement(4649) | - | g, c | dbSNP:75930376 |
| 4693 | + | a, g | dbSNP:5744947 |
| complement(4763) | - | g, a | dbSNP:115219846 |
| 4774 | + | a, c | dbSNP:5744948 |
| complement(4819) | - | t, c | dbSNP:115873219 |
| complement(4834) | - | g, c | dbSNP:75228172 |
| complement(4853) | - | c, a | dbSNP:75378940 |
| complement(5045) | - | g, a | dbSNP:112358554 |
| complement(5108) | - | t, a | dbSNP:56102033 |
| complement(5150) | - | g, a | dbSNP:116001373 |
| complement(5168) | - | g, a | dbSNP:114891564 |
| 5179 | + | c, t | dbSNP:5744950 |
| complement(5378) | - | g, a | dbSNP:11146986 |
| 5408 | + | c, t | dbSNP:5744955 |
| complement(5608) | - | t, g | dbSNP:74967820 |
| 5614 | + | a, g | dbSNP:5744971 |
| 5627 | + | a, c | dbSNP:5744972 |
| complement(5703) | - | t, c | dbSNP:114119067 |
| complement(5719) | - | g, c | dbSNP:114173192 |
| 5751 | + | c, t | dbSNP:5744990 |
| complement(5807) | - | t, g | dbSNP:113976595 |
| 5848 | + | a, g | dbSNP:5744991 |
| complement(5961) | - | c, a | dbSNP:7487595 |
| complement(6062) | - | g, a | dbSNP:111709550 |
| complement(6093) | - | g, a | dbSNP:115452769 |
| 6163 | + | c, t | dbSNP:5745021 |
| complement(6176..6177) | - | , a | dbSNP:35055217 |
| complement(6210) | - | t, c | dbSNP:58916399 |
| 6296 | + | a, g | dbSNP:5745022 |
| complement(6326) | - | g, a | dbSNP:113581307 |
| complement(6394..6395) | - | , t | dbSNP:34241316 |
| 6462 | + | a, g | dbSNP:5745066 |
| complement(6497) | - | g, a | dbSNP:116076060 |
| 6519 | + | c, t | dbSNP:5745067 |
| 6538 | + | a, g | dbSNP:5745068 |
| complement(6539) | - | g, a | dbSNP:114778730 |
| complement(6650) | - | t, c | dbSNP:11146982 |
| complement(6807) | - | t, a | dbSNP:73155056 |
| complement(6810) | - | t, c | dbSNP:116323660 |
| complement(6817) | - | g, a | dbSNP:71452531 |
| complement(6861) | - | t, a | dbSNP:73481453 |
| 6947 | + | g, t | dbSNP:5745083 |
| complement(6949) | - | g, c | dbSNP:113095243 |
| 6971 | + | a, g | dbSNP:5745084 |
| complement(6995) | - | t, c | dbSNP:79419148 |
| 7149 | + | a, g | dbSNP:5745085 |
| 7169 | + | c, t | dbSNP:5745086 |
| 7293 | + | , c | dbSNP:5801983 |
| complement(7296) | - | , g | dbSNP:34705857 |
| 7334 | + | a, g | dbSNP:5745087 |
| 7401 | + | a, c | dbSNP:5745088 |
| 7439 | + | c, t | dbSNP:5745089 |
| complement(7440) | - | t, c | dbSNP:14302 |
| 7448 | + | a, g | dbSNP:5745090 |
| 7525 | + | a, g | dbSNP:5745091 |
| complement(7691) | - | t, c | dbSNP:11831601 |
| complement(7810..7811) | - | c, a | dbSNP:11540669 |
| complement(7811) | - | c, a | dbSNP:8435 |
| 7818 | + | c, t | dbSNP:5745092 |
| Gene Symbol | POLE |
| Gene Synonym | DKFZp434F222; FLJ21434; POLE1 |
| Chromosome | 12 |
| Locus Map | 12q24.3 |
| All Transcripts | NM_006231 |
| Title | Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8 . |
| Author | Murakami,T., Takano,R., Takeo,S., Taniguchi,R., Ogawa,K., Ohashi,E. and Tsurimoto,T. |
| Journal | J. Biol. Chem. 285 (45), 34608-34615 (2010) |
| Title | An approach based on a genome-wide association study reveals candidate loci for narcolepsy . |
| Author | Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y., Honda,M. and Tokunaga,K. |
| Journal | Hum. Genet. 128 (4), 433-441 (2010) |
| Title | Polymorphisms in the base excision repair pathway and graft-versus-host disease . |
| Author | Arora,M., Lindgren,B., Basu,S., Nagaraj,S., Gross,M., Weisdorf,D. and Thyagarajan,B. |
| Journal | Leukemia 24 (8), 1470-1475 (2010) |
| Title | Variation within DNA repair pathway genes and risk of multiple sclerosis . |
| Author | Briggs,F.B., Goldstein,B.A., McCauley,J.L., Zuvich,R.L., De Jager,P.L., Rioux,J.D., Ivinson,A.J., Compston,A., Hafler,D.A., Hauser,S.L., Oksenberg,J.R., Sawcer,S.J., Pericak-Vance,M.A., Haines,J.L. and Barcellos,L.F. |
| Journal | Am. J. Epidemiol. 172 (2), 217-224 (2010) |
| Title | VARS2 V552V variant as prognostic marker in patients with early breast cancer . |
| Author | Chae,Y.S., Lee,S.J., Moon,J.H., Kang,B.W., Kim,J.G., Sohn,S.K., Jung,J.H., Park,H.Y., Park,J.Y., Kim,H.J. and Lee,S.W. |
| Journal | Med. Oncol. (2010) In press |
| Title | Human DNA polymerase epsilon: enzymologic mechanism and gap-filling synthesis . |
| Author | Mozzherin,D.J. and Fisher,P.A. |
| Journal | Biochemistry 35 (11), 3572-3577 (1996) |
| Title | Localization of the gene for DNA polymerase epsilon (POLE) to human chromosome 12q24.3 and rat chromosome 12 by somatic cell hybrid panels and fluorescence in situ hybridization . |
| Author | Szpirer,J., Pedeutour,F., Kesti,T., Riviere,M., Syvaoja,J.E., Turc-Carel,C. and Szpirer,C. |
| Journal | Genomics 20 (2), 223-226 (1994) |
| Title | Molecular cloning of the cDNA for the catalytic subunit of human . |
| Author | Kesti,T., Frantti,H. and Syvaoja,J.E. |
| Journal | J. Biol. Chem. 268 (14), 10238-10245 (1993) |
| Title | The function of DNA polymerases in DNA repair synthesis of ultraviolet-irradiated human fibroblasts . |
| Author | Popanda,O. and Thielmann,H.W. |
| Journal | Biochim. Biophys. Acta 1129 (2), 155-160 (1992) |
| Title | DNA primase from KB cells. Characterization of a primase activity tightly associated with immunoaffinity-purified DNA polymerase-alpha . |
| Author | Wang,T.S., Hu,S.Z. and Korn,D. |
| Journal | J. Biol. Chem. 259 (3), 1854-1865 (1984) |
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