DNA polymerase epsilon catalytic subunit A

Details

Name
DNA polymerase epsilon catalytic subunit A
Synonyms
  • 2.7.7.7
  • DNA polymerase II subunit A
  • POLE1
Gene Name
POLE
Organism
Humans
Amino acid sequence
>lcl|BSEQ0006953|DNA polymerase epsilon catalytic subunit A
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
Number of residues
2286
Molecular Weight
261515.525
Theoretical pI
6.35
GO Classification
Functions
3'-5' exonuclease activity / 4 iron, 4 sulfur cluster binding / chromatin binding / DNA binding / DNA-directed DNA polymerase activity / nucleotide binding / zinc ion binding
Processes
base-excision repair, gap-filling / DNA replication / DNA replication initiation / DNA synthesis involved in DNA repair / G1/S transition of mitotic cell cycle / in utero embryonic development / mitotic cell cycle / nucleotide-excision repair, DNA gap filling / telomere maintenance / telomere maintenance via recombination / telomere maintenance via semi-conservative replication
Components
epsilon DNA polymerase complex / nucleoplasm / nucleus / plasma membrane
General Function
Zinc ion binding
Specific Function
Participates in DNA repair and in chromosomal DNA replication.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Nucleus
Gene sequence
>lcl|BSEQ0012512|DNA polymerase epsilon catalytic subunit A (POLE)
ATGTCTCTGAGGAGCGGCGGGCGGCGGCGCGCGGACCCAGGCGCGGATGGCGAGGCCAGC
AGGGATGATGGCGCCACTTCCTCAGTTTCGGCACTCAAGCGCCTGGAACGGAGTCAGTGG
ACGGATAAGATGGATTTGCGGTTTGGTTTTGAGCGGCTGAAGGAGCCTGGTGAGAAGACA
GGCTGGCTCATTAACATGCATCCTACCGAGATTTTAGATGAAGATAAGCGCTTAGGCAGT
GCAGTGGATTACTACTTTATTCAAGATGACGGAAGCAGATTTAAGGTGGCTTTGCCCTAT
AAACCGTATTTCTACATTGCGACCAGAAAGGGTTGTGAGCGAGAAGTTTCATCTTTTCTC
TCCAAGAAGTTTCAGGGCAAAATTGCAAAAGTGGAGACTGTCCCCAAAGAGGATCTGGAC
TTGCCAAATCACTTGGTGGGTTTGAAGCGAAATTACATCAGGCTGTCCTTCCACACTGTG
GAGGATCTTGTCAAAGTGAGGAAGGAGATCTCCCCTGCCGTGAAGAAGAACAGGGAGCAG
GATCACGCCAGCGACGCGTACACAGCTCTGCTTTCCAGTGTTCTGCAGAGGGGCGGTGTC
ATTACTGATGAAGAGGAAACCTCTAAGAAGATAGCTGACCAGTTGGACAACATTGTGGAC
ATGCGCGAGTACGATGTTCCCTACCACATCCGCCTCTCCATTGACCTGAAGATCCACGTG
GCTCATTGGTACAATGTCAGATACCGAGGAAATGCTTTTCCGGTAGAAATCACCCGCCGA
GATGACCTTGTTGAACGACCTGACCCTGTGGTTTTGGCATTTGACATTGAGACGACCAAA
CTGCCCCTCAAGTTTCCTGATGCTGAGACAGACCAGATTATGATGATTTCCTACATGATC
GATGGCCAGGGCTACCTCATCACCAACAGGGAGATTGTTTCAGAAGATATTGAAGATTTT
GAGTTCACCCCCAAGCCAGAATATGAAGGCCCCTTTTGTGTCTTCAATGAACCCGATGAG
GCTCATCTGATCCAAAGGTGGTTTGAACACGTCCAGGAGACCAAACCCACCATCATGGTC
ACCTACAACGGGGACTTTTTTGACTGGCCATTTGTGGAGGCCCGGGCAGCAGTCCACGGT
CTGAGCATGCAGCAGGAGATAGGCTTCCAGAAGGACAGCCAGGGGGAGTACAAGGCGCCC
CAGTGCATCCACATGGACTGCCTCAGGTGGGTGAAGAGGGACAGTTACCTTCCTGTGGGC
AGTCATAATCTCAAGGCGGCCGCCAAGGCCAAGCTAGGCTATGATCCCGTGGAGCTAGAC
CCGGAGGACATGTGCCGGATGGCCACGGAGCAGCCCCAGACTCTGGCCACGTATTCTGTG
TCAGATGCTGTCGCCACTTACTACCTGTACATGAAGTACGTCCACCCATTCATCTTTGCT
CTGTGCACCATTATTCCCATGGAGCCCGACGAGGTGCTGCGGAAGGGCTCTGGCACTCTG
TGTGAGGCCTTGCTGATGGTGCAGGCCTTCCACGCCAACATCATCTTCCCCAACAAGCAA
GAGCAGGAGTTCAATAAGCTGACGGACGACGGACACGTGCTGGACTCTGAGACCTACGTC
GGGGGCCACGTGGAGGCCCTCGAGTCTGGGGTTTTCCGCAGCGATATCCCTTGCCGGTTT
AGGATGAATCCTGCCGCCTTTGACTTCCTGCTGCAGCGGGTTGAGAAGACCTTGCGCCAC
GCCCTTGAGGAAGAGGAGAAAGTGCCTGTGGAGCAAGTCACCAACTTTGAAGAGGTGTGT
GATGAGATTAAGAGCAAGCTTGCCTCCCTGAAGGACGTTCCCAGCCGCATCGAGTGTCCA
CTCATCTACCACCTGGACGTGGGGGCCATGTACCCCAACATCATCCTGACCAACCGCCTG
CAGCCCTCTGCCATGGTGGACGAAGCCACCTGTGCTGCCTGTGACTTCAATAAGCCTGGA
GCAAACTGCCAGCGGAAGATGGCCTGGCAGTGGAGGGGCGAGTTCATGCCAGCCAGTCGC
AGCGAATACCATCGGATCCAGCACCAGCTGGAGTCAGAGAAGTTCCCCCCCTTGTTCCCA
GAGGGGCCAGCTCGGGCCTTTCATGAACTGTCCCGCGAGGAACAGGCGAAATACGAGAAG
AGAAGGCTGGCGGATTACTGCCGGAAAGCCTACAAGAAGATCCACATCACCAAGGTGGAA
GAGCGTCTCACCACCATCTGCCAGCGGGAAAACTCCTTCTACGTGGACACCGTGCGTGCC
TTCCGGGACAGGCGTTACGAGTTCAAAGGGCTCCACAAGGTGTGGAAAAAGAAGCTCTCG
GCGGCCGTGGAGGTGGGCGACGCGGCTGAGGTGAAGCGCTGCAAGAACATGGAGGTGCTG
TATGACTCGCTGCAGCTGGCCCACAAGTGCATCCTGAACTCCTTCTATGGCTATGTCATG
CGCAAGGGGGCTCGCTGGTACTCCATGGAGATGGCTGGCATCGTCTGCTTCACAGGGGCC
AACATCATCACCCAGGCACGGGAGCTGATCGAGCAGATTGGGAGGCCCTTAGAGCTGGAC
ACAGATGGTATATGGTGCGTCCTGCCCAACAGCTTCCCAGAAAATTTTGTCTTCAAGACG
ACCAATGTGAAGAAGCCCAAAGTGACCATCTCCTACCCAGGCGCCATGTTGAACATCATG
GTCAAGGAAGGCTTCACCAATGACCAGTACCAGGAGCTGGCTGAGCCGTCCTCACTCACC
TACGTCACCCGCTCAGAGAACAGCATCTTTTTTGAGGTTGATGGGCCCTACCTTGCCATG
ATTCTTCCAGCCTCCAAGGAAGAAGGCAAGAAATTGAAGAAGAGGTATGCTGTGTTCAAT
GAAGACGGTTCTCTGGCTGAGCTCAAGGGCTTTGAGGTCAAACGCCGCGGGGAACTGCAG
CTGATTAAGATCTTCCAATCCTCGGTGTTTGAGGCCTTCCTCAAGGGCAGCACGCTGGAA
GAGGTGTATGGCTCTGTAGCCAAGGTGGCTGACTACTGGCTGGACGTGCTGTACAGCAAG
GCAGCCAACATGCCTGACTCTGAGCTATTCGAGCTCATCTCTGAGAACCGTTCCATGTCT
CGGAAGCTGGAAGATTACGGGGAGCAGAAGTCTACGTCCATCAGCACAGCAAAGCGCCTG
GCCGAGTTCCTGGGAGACCAGATGGTCAAGGATGCAGGGCTGAGTTGCCGCTACATCATC
TCCCGCAAGCCCGAGGGCTCCCCTGTCACGGAGAGGGCCATCCCACTTGCCATTTTCCAA
GCAGAGCCCACGGTGAGGAAGCACTTTCTCCGGAAATGGCTCAAGAGCTCTTCCCTTCAA
GACTTTGATATTCGAGCAATTCTGGATTGGGACTACTACATTGAGCGGCTGGGAAGCGCC
ATCCAGAAGATCATCACCATCCCTGCGGCCCTGCAGCAGGTAAAGAACCCAGTGCCACGT
GTCAAACACCCCGACTGGCTGCACAAAAAACTGCTGGAGAAGAATGATGTCTACAAGCAG
AAGAAGATCAGTGAGCTCTTCACCCTGGAGGGCAGGAGACAGGTCACGATGGCCGAGGCC
TCAGAAGACAGTCCGAGGCCAAGTGCTCCTGACATGGAGGACTTCGGCCTCGTAAAGCTG
CCTCACCCAGCAGCCCCTGTCACTGTGAAGAGGAAGCGAGTTCTTTGGGAGAGCCAGGAG
GAGTCCCAGGACCTCACGCCGACTGTGCCCTGGCAGGAAATCTTGGGGCAGCCTCCCGCC
CTGGGAACCAGCCAGGAGGAATGGCTTGTCTGGCTCCGGTTCCACAAGAAGAAGTGGCAG
CTGCAGGCCCGGCAGCGCCTCGCCCGCAGGAAGAGGCAGCGTCTGGAGTCGGCAGAGGGT
GTGCTCAGGCCCGGGGCCATCCGGGATGGTCCTGCCACGGGGCTGGGGAGCTTCTTGCGA
AGAACTGCCCGCAGCATCCTGGACCTTCCGTGGCAGATTGTGCAGATCAGCGAGACCAGC
CAGGCCGGCCTGTTCAGGCTGTGGGCGCTCGTTGGCAGTGACTTGCACTGCATCAGGCTG
AGCATCCCCCGTGTGTTCTACGTGAACCAGCGAGTCGCTAAAGCGGAGGAGGGTGCTTCG
TATCGCAAGGTAAATCGGGTCCTTCCTCGCTCCAACATGGTCTACAATCTCTATGAGTAT
TCAGTGCCAGAGGACATGTACCAGGAACACATCAACGAGATCAACGCTGAGCTGTCAGCG
CCAGACATCGAGGGCGTATATGAGACTCAGGTTCCGTTACTGTTCCGGGCCCTGGTGCAC
CTGGGCTGTGTGTGTGTGGTCAATAAACAGCTGGTGAGGCACCTTTCAGGCTGGGAAGCA
GAGACCTTTGCTCTTGAGCACCTGGAGATGCGCTCTCTGGCCCAGTTCAGCTACCTGGAA
CCAGGGAGTATCCGCCATATCTACCTGTACCACCACGCACAGGCCCACAAAGCGCTCTTC
GGGATCTTCATCCCCTCACAGCGCAGGGCATCCGTCTTTGTGCTGGACACTGTGCGCAGC
AACCAGATGCCCAGCCTTGGCGCCCTGTACTCAGCAGAGCACGGCCTCCTCCTGGAGAAG
GTGGGCCCTGAGCTCCTGCCACCCCCCAAACACACCTTCGAAGTTCGGGCAGAAACTGAC
CTGAAGACCATCTGCAGAGCCATCCAGCGATTCCTGCTCGCCTACAAGGAGGAGCGCCGG
GGGCCCACACTCATCGCTGTTCAGTCCAGCTGGGAGCTGAAGAGGCTGGCCAGTGAAATT
CCTGTCTTGGAGGAATTCCCACTGGTGCCTATCTGTGTGGCTGACAAGATCAACTATGGG
GTCCTGGACTGGCAGCGCCATGGAGCCCGGCGCATGATCCGTCACTACCTCAACCTGGAC
ACCTGCCTGTCGCAGGCCTTCGAGATGAGCAGGTACTTTCACATTCCCATTGGGAACCTA
CCAGAGGACATCTCCACATTCGGCTCCGACCTCTTCTTTGCCCGCCACCTCCAGCGCCAC
AACCACCTGCTCTGGCTGTCCCCTACAGCCCGCCCTGACCTGGGTGGAAAGGAGGCTGAT
GACAACTGTCTTGTCATGGAGTTCGATGACCAAGCCACTGTTGAGATCAACAGTTCAGGC
TGTTACTCCACAGTGTGTGTGGAGCTGGACCTTCAGAACCTGGCCGTCAACACCATTCTC
CAGTCTCACCATGTCAACGACATGGAGGGGGCCGACAGCATGGGGATCAGCTTCGACGTG
ATCCAGCAGGCCTCCCTGGAGGACATGATCACGGGTGGTCAGGCTGCCAGTGCCCCGGCC
AGCTACGATGAGACAGCCCTGTGCTCTAACACCTTCAGGATCCTGAAGAGCATGGTCGTG
GGCTGGGTGAAGGAGATCACCCAGTACCACAACATCTATGCAGACAACCAGGTGATGCAC
TTCTACCGCTGGCTTCGGTCGCCATCCTCTCTGCTTCATGACCCTGCCCTGCACCGCACA
CTCCACAACATGATGAAGAAGCTCTTCCTGCAGCTCATCGCTGAGTTCAAGCGCCTGGGG
TCATCAGTCATCTACGCCAACTTCAACCGCATCATCCTCTGTACAAAGAAGCGCCGTGTG
GAAGATGCCATCGCTTACGTGGAGTACATCACCAGCAGCATCCATTCAAAGGAGACCTTC
CATTCTCTGACAATTTCTTTCTCTCGATGCTGGGAATTTCTTCTCTGGATGGATCCATCT
AACTATGGCGGAATCAAAGGAAAAGTTTCATCTCGTATTCACTGTGGACTGCAAGACTCC
CAGAAAGCAGGGGGAGCAGAGGATGAGCAGGAAAATGAGGACGATGAGGAGGAAAGAGAT
GGGGAGGAGGAGGAAGAGGCGGAGGAATCCAACGTGGAGGATTTACTGGAAAACAACTGG
AACATTTTGCAGTTTTTGCCACAGGCAGCCTCCTGCCAGAACTACTTCCTCATGATTGTT
TCAGCGTACATCGTGGCCGTGTACCACTGCATGAAGGACGGGCTGAGGCGCAGTGCTCCA
GGGAGCACCCCCGTGAGGAGGAGGGGGGCCAGCCAGCTCTCCCAGGAGGCCGAGGGGGCG
GTCGGAGCCCTTCCCGGAATGATCACCTTCTCTCAGGATTATGTCGCAAATGAGCTCACT
CAGAGCTTCTTCACCATCACTCAGAAGATTCAGAAGAAAGTCACAGGCTCTCGGAACTCC
ACTGAGCTCTCAGAGATGTTTCCTGTCCTCCCCGGTTCCCACTTGCTGCTCAATAACCCT
GCCCTGGAGTTCATCAAATACGTGTGCAAGGTGCTGTCCCTGGACACCAACATCACAAAC
CAGGTGAATAAGCTGAACCGAGACCTGCTTCGCCTGGTGGATGTCGGCGAGTTCTCCGAG
GAGGCCCAGTTCCGAGACCCCTGCCGCTCCTACGTGCTTCCTGAGGTCATCTGCCGCAGC
TGTAACTTCTGCCGCGACCTGGACCTGTGTAAAGACTCTTCCTTCTCAGAGGATGGGGCG
GTCCTGCCTCAGTGGCTCTGCTCCAACTGTCAGGCGCCCTACGACTCCTCTGCCATCGAG
ATGACGCTGGTGGAAGTTCTACAGAAGAAGCTGATGGCCTTCACCCTGCAGGACCTGGTC
TGCCTGAAGTGCCGCGGGGTGAAGGAGACCAGCATGCCTGTGTACTGCAGCTGCGCGGGA
GACTTCGCCCTCACCATCCACACCCAGGTCTTCATGGAACAGATCGGAATATTCCGGAAC
ATTGCCCAGCACTACGGCATGTCGTACCTCCTGGAGACCCTGGAGTGGCTGCTGCAGAAG
AACCCACAGCTGGGCCATTAG
Chromosome Location
12
Locus
12q24.3
External Identifiers
ResourceLink
UniProtKB IDQ07864
UniProtKB Entry NameDPOE1_HUMAN
GenBank Protein ID3192938
GenBank Gene IDL09561
HGNC IDHGNC:9177
General References
  1. Kesti T, Frantti H, Syvaoja JE: Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. J Biol Chem. 1993 May 15;268(14):10238-45. [PubMed:8486689]
  2. Li Y, Pursell ZF, Linn S: Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon. J Biol Chem. 2000 Jul 28;275(30):23247-52. [PubMed:10801849]
  3. Makiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Makela TP, Syvaoja JE: BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. J Biol Chem. 2001 Aug 10;276(32):30399-406. Epub 2001 Jun 6. [PubMed:11395493]
  4. Post SM, Tomkinson AE, Lee EY: The human checkpoint Rad protein Rad17 is chromatin-associated throughout the cell cycle, localizes to DNA replication sites, and interacts with DNA polymerase epsilon. Nucleic Acids Res. 2003 Oct 1;31(19):5568-75. [PubMed:14500819]
  5. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007 May 25;316(5828):1160-6. [PubMed:17525332]
  6. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. [PubMed:20068231]
  7. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [PubMed:21269460]
  8. Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G: Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. [PubMed:23230001]
  9. Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. [PubMed:23263490]
  10. Valle L, Hernandez-Illan E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Segui N, Vargas G, Guarinos C, Juarez M, Sanjuan X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, Gonzalez S, Jover R, Lazaro C, Capella G, Pineda M, Soto JL, Blanco I: New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet. 2014 Jul 1;23(13):3506-12. doi: 10.1093/hmg/ddu058. Epub 2014 Feb 5. [PubMed:24501277]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00242Cladribineapproved, investigationalyesinhibitorDetails