LOCUS       NM_007195               6020 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens DNA polymerase iota (POLI), transcript variant 1,
            mRNA.
ACCESSION   NM_007195
VERSION     NM_007195.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6020)
  AUTHORS   Guo,Y., Rall-Scharpf,M., Bourdon,J.C., Wiesmuller,L. and Biber,S.
  TITLE     p53 isoforms differentially impact on the POLiota dependent DNA
            damage tolerance pathway
  JOURNAL   Cell Death Dis 12 (10), 941 (2021)
   PUBMED   34645785
  REMARK    GeneRIF: p53 isoforms differentially impact on the POLiota
            dependent DNA damage tolerance pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6020)
  AUTHORS   Ihle,M., Biber,S., Schroeder,I.S., Blattner,C., Deniz,M., Damia,G.,
            Gottifredi,V. and Wiesmuller,L.
  TITLE     Impact of the interplay between stemness features, p53 and pol iota
            on replication pathway choices
  JOURNAL   Nucleic Acids Res 49 (13), 7457-7475 (2021)
   PUBMED   34165573
  REMARK    GeneRIF: Impact of the interplay between stemness features, p53 and
            pol iota on replication pathway choices.
REFERENCE   3  (bases 1 to 6020)
  AUTHORS   Wang,R., Lenoir,W.F., Wang,C., Su,D., McLaughlin,M., Hu,Q.,
            Shen,X., Tian,Y., Klages-Mundt,N., Lynn,E., Wood,R.D., Chen,J.,
            Hart,T. and Li,L.
  TITLE     DNA polymerase iota compensates for Fanconi anemia pathway
            deficiency by countering DNA replication stress
  JOURNAL   Proc Natl Acad Sci U S A 117 (52), 33436-33445 (2020)
   PUBMED   33376220
  REMARK    GeneRIF: DNA polymerase iota compensates for Fanconi anemia pathway
            deficiency by countering DNA replication stress.
REFERENCE   4  (bases 1 to 6020)
  AUTHORS   Biber,S., Pospiech,H., Gottifredi,V. and Wiesmuller,L.
  TITLE     Multiple biochemical properties of the p53 molecule contribute to
            activation of polymerase iota-dependent DNA damage tolerance
  JOURNAL   Nucleic Acids Res 48 (21), 12188-12203 (2020)
   PUBMED   33166398
  REMARK    GeneRIF: Multiple biochemical properties of the p53 molecule
            contribute to activation of polymerase iota-dependent DNA damage
            tolerance.
REFERENCE   5  (bases 1 to 6020)
  AUTHORS   Vaisman,A. and Woodgate,R.
  TITLE     Mysterious and fascinating: DNA polymerase i remains enigmatic 20
            years after its discovery
  JOURNAL   DNA Repair (Amst) 93, 102914 (2020)
   PUBMED   33087280
  REMARK    GeneRIF: Mysterious and fascinating: DNA polymerase i remains
            enigmatic 20 years after its discovery.
            Review article
REFERENCE   6  (bases 1 to 6020)
  AUTHORS   McIntyre,J., McLenigan,M.P., Frank,E.G., Dai,X., Yang,W., Wang,Y.
            and Woodgate,R.
  TITLE     Posttranslational Regulation of Human DNA Polymerase iota
  JOURNAL   J Biol Chem 290 (45), 27332-27344 (2015)
   PUBMED   26370087
  REMARK    GeneRIF: Mass spectrometry analysis of monoubiquitinated poliota
            revealed that it is ubiquitinated at over 27 unique sites. Many of
            these sites are localized in different functional domains of the
            protein.
REFERENCE   7  (bases 1 to 6020)
  AUTHORS   Tissier,A., Frank,E.G., McDonald,J.P., Iwai,S., Hanaoka,F. and
            Woodgate,R.
  TITLE     Misinsertion and bypass of thymine-thymine dimers by human DNA
            polymerase iota
  JOURNAL   EMBO J 19 (19), 5259-5266 (2000)
   PUBMED   11013228
REFERENCE   8  (bases 1 to 6020)
  AUTHORS   Tissier,A., McDonald,J.P., Frank,E.G. and Woodgate,R.
  TITLE     poliota, a remarkably error-prone human DNA polymerase
  JOURNAL   Genes Dev 14 (13), 1642-1650 (2000)
   PUBMED   10887158
REFERENCE   9  (bases 1 to 6020)
  AUTHORS   Masutani,C., Kusumoto,R., Iwai,S. and Hanaoka,F.
  TITLE     Mechanisms of accurate translesion synthesis by human DNA
            polymerase eta
  JOURNAL   EMBO J 19 (12), 3100-3109 (2000)
   PUBMED   10856253
REFERENCE   10 (bases 1 to 6020)
  AUTHORS   McDonald,J.P., Rapic-Otrin,V., Epstein,J.A., Broughton,B.C.,
            Wang,X., Lehmann,A.R., Wolgemuth,D.J. and Woodgate,R.
  TITLE     Novel human and mouse homologs of Saccharomyces cerevisiae DNA
            polymerase eta
  JOURNAL   Genomics 60 (1), 20-30 (1999)
   PUBMED   10458907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093462.11.
            
            On Jul 22, 2020 this sequence version replaced NM_007195.2.
            
            Summary: The protein encoded by this gene is an error-prone DNA
            polymerase involved in DNA repair. The encoded protein promotes DNA
            synthesis across lesions in the template DNA, which other
            polymerases cannot do. The encoded polymerase inserts
            deoxynucleotides across lesions and then relies on DNA polymerase
            zeta to extend the nascent DNA strand to bypass the lesion.
            [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (1) encodes the longest protein
            [isoform a (long)]. However, this full length (740 aa) form is a
            minor form. A downstream translation start site is more commonly
            used, resulting in a 715 aa protein [isoform a (short)].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3618247.1,
                                           SRR14038192.231604.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000579534.6/ ENSP00000462664.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AC093462.11        98698-98842         c
            146-271             AC093462.11        96874-96999         c
            272-436             AC093462.11        94269-94433         c
            437-589             AC093462.11        90504-90656         c
            590-826             AC093462.11        87456-87692         c
            827-1005            AC093462.11        85344-85522         c
            1006-1097           AC093462.11        84346-84437         c
            1098-1228           AC093462.11        80948-81078         c
            1229-1434           AC093462.11        76321-76526         c
            1435-6020           AC093462.11        70125-74710         c
FEATURES             Location/Qualifiers
     source          1..6020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.2"
     gene            1..6020
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /note="DNA polymerase iota"
                     /db_xref="GeneID:11201"
                     /db_xref="HGNC:HGNC:9182"
                     /db_xref="MIM:605252"
     exon            1..145
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..2253
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /EC_number="2.7.7.7"
                     /note="isoform a (long) is encoded by transcript variant
                     1; RAD30 homolog B; polymerase (DNA-directed), iota;
                     polymerase (DNA) iota; polymerase (DNA directed) iota"
                     /codon_start=1
                     /product="DNA polymerase iota isoform a (long)"
                     /protein_id="NP_009126.2"
                     /db_xref="CCDS:CCDS11954.2"
                     /db_xref="GeneID:11201"
                     /db_xref="HGNC:HGNC:9182"
                     /db_xref="MIM:605252"
                     /translation="MEKLGVEPEEEGGGDDDEEDAEAWAMELADVGAAASSQGVHDQV
                     LPTPNASSRVIVHVDLDCFYAQVEMISNPELKDKPLGVQQKYLVVTCNYEARKLGVKK
                     LMNVRDAKEKCPQLVLVNGEDLTRYREMSYKVTELLEEFSPVVERLGFDENFVDLTEM
                     VEKRLQQLQSDELSAVTVSGHVYNNQSINLLDVLHIRLLVGSQIAAEMREAMYNQLGL
                     TGCAGVASNKLLAKLVSGVFKPNQQTVLLPESCQHLIHSLNHIKEIPGIGYKTAKCLE
                     ALGINSVRDLQTFSPKILEKELGISVAQRIQKLSFGEDNSPVILSGPPQSFSEEDSFK
                     KCSSEVEAKNKIEELLASLLNRVCQDGRKPHTVRLIIRRYSSEKHYGRESRQCPIPSH
                     VIQKLGTGNYDVMTPMVDILMKLFRNMVNVKMPFHLTLLSVCFCNLKALNTAKKGLID
                     YYLMPSLSTTSRSGKHSFKMKDTHMEDFPKDKETNRDFLPSGRIESTRTRESPLDTTN
                     FSKEKDINEFPLCSLPEGVDQEVFKQLPVDIQEEILSGKSREKFQGKGSVSCPLHASR
                     GVLSFFSKKQMQDIPINPRDHLSSSKQVSSVSPCEPGTSGFNSSSSSYMSSQKDYSYY
                     LDNRLKDERISQGPKEPQGFHFTNSNPAVSAFHSFPNLQSEQLFSRNHTTDSHKQTVA
                     TDSHEGLTENREPDSVDEKITFPSDIDPQVFYELPEAVQKELLAEWKRAGSDFHIGHK
                     "
     exon            146..271
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            272..436
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            437..589
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            590..826
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            827..1005
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1097
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1228
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1434
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..6020
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2488..2493
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /note="hexamer: AATAAA"
     polyA_site      2510
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /note="major polyA site"
     regulatory      6002..6007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /note="hexamer: AATAAA"
     polyA_site      6020
                     /gene="POLI"
                     /gene_synonym="eta2; RAD30B; RAD3OB"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtagcg ctgcggttgg cagcggcggg atggagaagc tgggggtgga gccggaggag
       61 gaaggcggcg gcgacgacga cgaggaagac gccgaggcct gggccatgga actggcggac
      121 gtgggggcgg cagccagctc gcagggagtt catgatcaag tgttgcccac accaaatgct
      181 tcatccagag tcatagtaca tgtggatctg gattgctttt atgcacaagt agaaatgatc
      241 tcaaatccag agctaaaaga caaaccttta ggggttcaac agaaatattt ggtggttacc
      301 tgcaactatg aagctaggaa acttggagtt aagaaactta tgaatgtcag agatgcaaaa
      361 gaaaagtgtc cacagttggt attagttaat ggagaagacc tgacccgcta cagagaaatg
      421 tcttataagg ttacagaatt actggaagaa tttagtccag ttgttgagag acttggattt
      481 gatgaaaatt ttgtggatct aacagaaatg gttgagaaga gactacagca gctgcaaagt
      541 gatgaacttt ctgcggtgac tgtgtcgggt catgtataca ataatcagtc tataaacctg
      601 cttgacgtct tgcacatcag actacttgtt ggatctcaga ttgcagcaga gatgcgggaa
      661 gccatgtata atcagttggg gctcactggc tgtgctggag tggcttctaa taaactgttg
      721 gcaaaattag tttctggtgt ctttaaacca aatcaacaaa cagtcttatt acctgaaagt
      781 tgtcaacatc ttattcatag tttgaatcac ataaaggaaa tacctggtat tggctataaa
      841 actgccaaat gtcttgaagc actgggtatc aatagtgtgc gtgatctcca aaccttttca
      901 cccaaaattt tagaaaaaga attaggaatt tcagttgctc agcgtatcca aaagctcagt
      961 tttggagagg ataactcccc tgtgatactc tcaggaccac ctcagtcctt tagtgaagaa
     1021 gattcattta aaaaatgttc atctgaagtt gaagctaaaa ataagattga agaactactt
     1081 gctagtcttt taaacagagt atgccaagat ggaaggaagc ctcatacagt gagattaata
     1141 atccgtcggt attcctctga gaagcactat ggtcgtgaga gtcgtcagtg ccctattcct
     1201 tcacatgtaa ttcagaaatt agggacagga aattatgatg tgatgacccc aatggttgat
     1261 atacttatga aactttttcg aaatatggtg aatgtgaaga tgccatttca ccttaccctt
     1321 ctaagtgtgt gcttctgcaa ccttaaagca ctaaatactg ctaagaaagg gcttattgat
     1381 tattatttaa tgccatcatt atcaactact tcacgctctg gcaagcacag ttttaaaatg
     1441 aaagacactc atatggaaga ttttcccaaa gacaaagaaa caaaccggga tttcctacca
     1501 agtggaagaa ttgaaagtac aagaactagg gagtctccac tagataccac aaatttttct
     1561 aaagaaaaag acattaatga attcccactc tgttcacttc ctgaaggtgt tgaccaagaa
     1621 gtcttcaagc agcttccagt agatattcaa gaagaaatcc tttctggaaa atctagggaa
     1681 aaatttcaag ggaaaggaag tgtgagttgt ccattacatg cctctagagg agtattatct
     1741 ttcttttcta aaaaacaaat gcaagatatt cccataaatc ctagagatca tttatccagt
     1801 agcaaacagg tatcctctgt atctccttgt gaaccgggaa catcaggctt taatagcagt
     1861 agttcttctt acatgtctag ccaaaaggat tattcatatt atttagataa tagattaaaa
     1921 gatgaacgaa taagtcaagg acctaaagaa cctcaaggat tccactttac aaattcaaac
     1981 cctgctgtgt ctgcttttca ttcatttcca aacttgcaga gtgagcaact tttctccaga
     2041 aaccacacta cagatagcca taagcaaaca gtagcaacag actctcatga aggacttaca
     2101 gaaaatagag agccagattc tgttgatgag aaaattactt tcccttctga cattgatcct
     2161 caagttttct atgaactacc agaagcagta caaaaggaac tgctggcaga gtggaagaga
     2221 gcaggatcag atttccacat tggacataaa taagcatatt cagcaaaaag gtctgaaaag
     2281 caagggaata ccattatttt cggattagcg gtttattaag ctcttctata ttaaacacta
     2341 atagatattc aataacggag taaactgttc cagataaagc aagaatagtt gcaagaagta
     2401 aattctggca caaagcgtaa aaatataaca gaagaaataa tgtaaaatac tatcttttat
     2461 gtctaaagcc attttatatt acttttcaat aaaaagaata tcatggtcaa catagaatat
     2521 ttttcatgaa ttggtgggga gatgtatatg tttatatata aaaaatagcc aaatcgttgc
     2581 aatgatatgg taaaggacac attttttttt tttttttcct gtgaaatgtg gaatatctca
     2641 aattcagcct cttaggctga atagcaaatc ctactgccaa ctaacctatt aaaaatatag
     2701 atagttttga ctaaagtact acattacatt tagtatgttg acttttaaaa taccaaagca
     2761 atttatattc aattaatgct tcttcataca ccaagaatct accacaatac acagcacaca
     2821 aaggccgttc aataaacatt gaatgaatga atggtttggc tagggccagg gtggggagtt
     2881 aaagtgagag gagggtatat gttatagaga acagtggtag aaggaactct ccgtgcaagt
     2941 aaattaaggg aaagatggac accagaaagg caaggtgatg ggcctataag catactggat
     3001 aatggaagaa gtccatttct ttctagctag tttgaagggc ctaaaagcac tgagatgttt
     3061 ttgtatcttc cctacatttg gagatgatat taggttgtca taacaaccac aaatatagac
     3121 cattactaaa ttggtggatg tcctctttct cccattgtta ttgccttcct cttttgcctg
     3181 ctaaactaaa aattggatat aagattgaga atgtattata taatttgcaa gacatagagg
     3241 atgtttatag aatatactaa agtatccctc agcaccaata tgggagtatc ctggtctcaa
     3301 gtttataatt tttgcacata taatctaaag aagagacttt aaaaataaag tacacaaata
     3361 tgaaccaaag agtagcttaa aaatactttc ttctaggtct gaaattttct tttctttctt
     3421 tttttgtttt ggagacagag tctcactctg tcgcccaggg tggagtacag tggcgcaatc
     3481 ccagctcact acaacctccg cctcccaggt tcaagcaatt ctcctgcctc agcctcctga
     3541 gtagctggga ttacacgcat gccctaccac acccagcaaa tttttgtatt tttagtagag
     3601 atgacatttc accatattgg ccaggctggt ctcgaactcc tggtctcagg tgatcctcca
     3661 ccttggcctc ccaaagtgct gggattacag gtgtgagcca ttgctcctgg ccccagctct
     3721 gaaattttaa cttagttttg gattccttgg aatttgaaaa tatgctaaca cgaaggattg
     3781 taaataggta gtttgaggtt atcaggaaca gtaacttgaa gcaagaacat cagaaattgt
     3841 tcaccatgca aatatttagt actctgaatc aaggaacata gtatttttta catgagtatt
     3901 ccagtaaggt aattaaactt atgaaaaggg tatataactt tttgtaaatc attaaaacat
     3961 tttatagtcc ttgtaatgat ttcaggacct tggacagcta gaaggggctt aagaaaaaat
     4021 ggctaagaaa acaaagtaaa tggttttggc cagcttaaaa agagaaagca aaatagttaa
     4081 aaatacattt catagattga gaatgtacgg gctatgtcac agttacgcta cttattttgt
     4141 ggttttaagt tagtctcaac atctttgggc ctcagaatca acttttttat gggatctttt
     4201 ttctctgttt ttaagattat ctcttttttc tttggtgctt tgcaggttta ctgtattatt
     4261 tggaagtgcg aatttatttt tattcttagt atatactggc ttcttcctgt atcttttaat
     4321 tcatgttctg taaaattctc aaccactagc tcttcaaata tttcttctct attctaggac
     4381 tgtatacaaa tgatagactt tcttactgta tccttcatgt ctcttaattt ctcatatttt
     4441 tcatcctctt gtttctcttt actgcatttt gggtaatttc atcagctcta tctttctgtt
     4501 tactagttca tttttcagta gcatctcacc tgctatttaa aacaatgatg gttttaattt
     4561 caataaatat atttttcatt tgattctttt taacttcccg tttactcatt acagtccctt
     4621 gtaagtctgt ttctaatttt taaaagtcaa atatatgata tttttgataa tttcaatatt
     4681 ttaagtcttt ataagtctac atttaaggtt attattgcat atcattgtga cttatttcct
     4741 tgagtatgtg ttaatctgcg agaagacaga gggcctaaat tgtgtatgtt ttccttcagt
     4801 atgatttgag ttcgttgctt ctctgggtga ggtggtacaa actccttggc atactctatt
     4861 cacctttgtg gatcctgatt gaatgccttg tcttaagtgt aagctccctg acccttacta
     4921 ctagccgaag gttttgtctc tgcaggtcaa ttccaaacta acaggcagat gctgttagct
     4981 atctgcctcc agggataaac cccatctttc aagcttgctt cttgcttgat gctttctgct
     5041 gctttcttgc ttttgtttca gctcgagttt gttgttgttt tttttttttc ctgtttctgt
     5101 cttgaatgta gagggtattt ttatttttat tttttctgtt tctctcttga gtgtatagtg
     5161 tagagggggt ttctgtcttg agtgtaggcc tggagatttc ccttatatgg tacaaaccag
     5221 caatgaatta agaggtctct tttctccaag atctagtgtt ttgtactagg agaactctaa
     5281 aaagtatcta ttccactgta gtgccaaagt acaaatttat ttggatttat tttttgccat
     5341 cttatttttt aatatatttc tttttctatg ttgtgcttct ttcccacctt tatctctcct
     5401 cctatctttt gggatcagtt gggttttcta tttaatcata tattttccct ttactgattt
     5461 ggaatgtgaa tgttacaagt ccttttgatt atccttaaac atctaaaaat gctaccctct
     5521 ttccaaacaa cacaaaggta ttgaaataac attaattcta attaaattcc acaagttctt
     5581 tattaaatct ccaaattgga tattattagt attttatata gtcaatgttt atttttttga
     5641 tgggacatgg tgggggctta ccttttttct tgtgtgtcag atgttccttc taggtagaat
     5701 tctttatacc ttctgaaatt atgtccttag agctgtagat ttagaactga catctcttga
     5761 gctgttctaa gataatatct tttactttgg agatacgcag tttttattat atgtctagct
     5821 atagatttat catggattta ggttcattat gaatctgcag atttgtgtct tccatcaaat
     5881 ctggattgtt ttcaatatta aaaaaacttc tattttaaaa tctgtatata gaaaggtaca
     5941 taaacataaa tgaacatgtt aatgagtaat tgtaacaact atgtaactgt ccaagtcaag
     6001 aaataaaaca tatcaagtaa
//
