KEGG   Homo sapiens (human): 5426
Entry
5426              CDS       T01001                                 

Symbol
POLE, CRCS12, FILS, IMAGEI, POLE1
Name
(RefSeq) DNA polymerase epsilon, catalytic subunit
  KO
K02324  DNA polymerase epsilon subunit 1 [EC:2.7.7.7]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03030  DNA replication
hsa03410  Base excision repair
hsa03420  Nucleotide excision repair
Disease
H02369  IMAGE-I syndrome
H02370  FILS syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03030 DNA replication
    5426 (POLE)
   03410 Base excision repair
    5426 (POLE)
   03420 Nucleotide excision repair
    5426 (POLE)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    5426 (POLE)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    5426 (POLE)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.7  DNA-directed DNA polymerase
     5426 (POLE)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Elongation Factors
   DNA polymerase epsilon complex
    5426 (POLE)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   BER (base exicision repair)
    Long Patch-BER factors
     DNA polymerase epsilon complex
      5426 (POLE)
SSDB
Motif
Pfam: DUF1744 DNA_pol_B_exo1 DNA_pol_B DNA_pol_B_exo2 RNase_H_2 APP_N
Other DBs
NCBI-GeneID: 5426
NCBI-ProteinID: NP_006222
OMIM: 174762
HGNC: 9177
Ensembl: ENSG00000177084
Vega: OTTHUMG00000168045
Pharos: Q07864(Tclin)
UniProt: Q07864
Structure
PDB: 
5VBN

Position
12q24.33
AA seq 2286 aa
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
NT seq 6861 nt   +upstreamnt  +downstreamnt
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

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