LOCUS       NM_080911               2048 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens uracil DNA glycosylase (UNG), transcript variant 2,
            mRNA.
ACCESSION   NM_080911
VERSION     NM_080911.3
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 2048)
  AUTHORS   Orndorff,P.B., Poddar,S., Owens,A.M., Kumari,N., Ugaz,B.T.,
            Amin,S., Van Horn,W.D., van der Vaart,A. and Levitus,M.
  TITLE     Uracil-DNA glycosylase efficiency is modulated by substrate
            rigidity
  JOURNAL   Sci Rep 13 (1), 3915 (2023)
   PUBMED   36890276
  REMARK    GeneRIF: Uracil-DNA glycosylase efficiency is modulated by
            substrate rigidity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2048)
  AUTHORS   Otterlei,M., Haug,T., Nagelhus,T.A., Slupphaug,G., Lindmo,T. and
            Krokan,H.E.
  TITLE     Nuclear and mitochondrial splice forms of human uracil-DNA
            glycosylase contain a complex nuclear localisation signal and a
            strong classical mitochondrial localisation signal, respectively
  JOURNAL   Nucleic Acids Res 26 (20), 4611-4617 (1998)
   PUBMED   9753728
REFERENCE   3  (bases 1 to 2048)
  AUTHORS   Haug,T., Skorpen,F., Aas,P.A., Malm,V., Skjelbred,C. and
            Krokan,H.E.
  TITLE     Regulation of expression of nuclear and mitochondrial forms of
            human uracil-DNA glycosylase
  JOURNAL   Nucleic Acids Res 26 (6), 1449-1457 (1998)
   PUBMED   9490791
REFERENCE   4  (bases 1 to 2048)
  AUTHORS   Nilsen,H., Otterlei,M., Haug,T., Solum,K., Nagelhus,T.A.,
            Skorpen,F. and Krokan,H.E.
  TITLE     Nuclear and mitochondrial uracil-DNA glycosylases are generated by
            alternative splicing and transcription from different positions in
            the UNG gene
  JOURNAL   Nucleic Acids Res 25 (4), 750-755 (1997)
   PUBMED   9016624
REFERENCE   5  (bases 1 to 2048)
  AUTHORS   Mol,C.D., Arvai,A.S., Sanderson,R.J., Slupphaug,G., Kavli,B.,
            Krokan,H.E., Mosbaugh,D.W. and Tainer,J.A.
  TITLE     Crystal structure of human uracil-DNA glycosylase in complex with a
            protein inhibitor: protein mimicry of DNA
  JOURNAL   Cell 82 (5), 701-708 (1995)
   PUBMED   7671300
REFERENCE   6  (bases 1 to 2048)
  AUTHORS   Mol,C.D., Arvai,A.S., Slupphaug,G., Kavli,B., Alseth,I.,
            Krokan,H.E. and Tainer,J.A.
  TITLE     Crystal structure and mutational analysis of human uracil-DNA
            glycosylase: structural basis for specificity and catalysis
  JOURNAL   Cell 80 (6), 869-878 (1995)
   PUBMED   7697717
REFERENCE   7  (bases 1 to 2048)
  AUTHORS   Haug,T., Skorpen,F., Lund,H. and Krokan,H.E.
  TITLE     Structure of the gene for human uracil-DNA glycosylase and analysis
            of the promoter function
  JOURNAL   FEBS Lett 353 (2), 180-184 (1994)
   PUBMED   7926048
REFERENCE   8  (bases 1 to 2048)
  AUTHORS   Slupphaug,G., Markussen,F.H., Olsen,L.C., Aasland,R.,
            Aarsaether,N., Bakke,O., Krokan,H.E. and Helland,D.E.
  TITLE     Nuclear and mitochondrial forms of human uracil-DNA glycosylase are
            encoded by the same gene
  JOURNAL   Nucleic Acids Res 21 (11), 2579-2584 (1993)
   PUBMED   8332455
REFERENCE   9  (bases 1 to 2048)
  AUTHORS   Slupphaug,G., Olsen,L.C., Helland,D., Aasland,R. and Krokan,H.E.
  TITLE     Cell cycle regulation and in vitro hybrid arrest analysis of the
            major human uracil-DNA glycosylase
  JOURNAL   Nucleic Acids Res 19 (19), 5131-5137 (1991)
   PUBMED   1923798
REFERENCE   10 (bases 1 to 2048)
  AUTHORS   Olsen,L.C., Aasland,R., Wittwer,C.U., Krokan,H.E. and Helland,D.E.
  TITLE     Molecular cloning of human uracil-DNA glycosylase, a highly
            conserved DNA repair enzyme
  JOURNAL   EMBO J 8 (10), 3121-3125 (1989)
   PUBMED   2555154
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ950839.1, Y09008.1 and
            BU622689.1.
            
            On Jun 2, 2019 this sequence version replaced NM_080911.2.
            
            Summary: This gene encodes one of several uracil-DNA glycosylases.
            One important function of uracil-DNA glycosylases is to prevent
            mutagenesis by eliminating uracil from DNA molecules by cleaving
            the N-glycosylic bond and initiating the base-excision repair (BER)
            pathway. Uracil bases occur from cytosine deamination or
            misincorporation of dUMP residues. Alternative promoter usage and
            splicing of this gene leads to two different isoforms: the
            mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as
            a previous symbol for the CCNO gene (GeneID 10309), which has been
            confused with this gene, in the literature and some databases.
            [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (2) uses an upstream promoter and
            an alternate splice site for exon 1B when compared to variant 1. It
            encodes the nuclear UNG2 isoform, which has a different N-terminal
            sequence than the UNG1 isoform.
            
            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 :: Y09008.1, DRR138512.105435.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000242576.7/
                                                  ENSP00000242576.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                BQ950839.1         15-27
            14-2047             Y09008.1           1-2034
            2048-2048           BU622689.1         20-20               c
FEATURES             Location/Qualifiers
     source          1..2048
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..2048
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /note="uracil DNA glycosylase"
                     /db_xref="GeneID:7374"
                     /db_xref="HGNC:HGNC:12572"
                     /db_xref="MIM:191525"
     exon            1..215
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1025
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /EC_number="3.2.2.27"
                     /note="isoform UNG2 is encoded by transcript variant 2;
                     uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"
                     /codon_start=1
                     /product="uracil-DNA glycosylase isoform UNG2"
                     /protein_id="NP_550433.1"
                     /db_xref="CCDS:CCDS9124.1"
                     /db_xref="GeneID:7374"
                     /db_xref="HGNC:HGNC:12572"
                     /db_xref="MIM:191525"
                     /translation="MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAA
                     AIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAAALLRLAARNVPVGFGESWKKHL
                     SGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPN
                     QAHGLCFSVQRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTV
                     RAHQANSHKERGWEQFTDAVVSWLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTA
                     HPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL"
     exon            216..422
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /inference="alignment:Splign:2.1.0"
     exon            423..518
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /inference="alignment:Splign:2.1.0"
     exon            519..616
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /inference="alignment:Splign:2.1.0"
     exon            617..705
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /inference="alignment:Splign:2.1.0"
     exon            706..884
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /inference="alignment:Splign:2.1.0"
     exon            885..2048
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2028..2033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /note="hexamer: AATAAA"
     polyA_site      2048
                     /gene="UNG"
                     /gene_synonym="DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2"
                     /note="major polyA site"
ORIGIN      
        1 aattgctgac cgccacagcc acagccaggg ctagcctcgc cggttcccgg gtggcgcgcg
       61 ttcgctgcct cctcagctcc aggatgatcg gccagaagac gctctactcc tttttctccc
      121 ccagccccgc caggaagcga cacgccccca gccccgagcc ggccgtccag gggaccggcg
      181 tggctggggt gcctgaggaa agcggagatg cggcggccat cccagccaag aaggccccgg
      241 ctgggcagga ggagcctggg acgccgccct cctcgccgct gagtgccgag cagttggacc
      301 ggatccagag gaacaaggcc gcggccctgc tcagactcgc ggcccgcaac gtgcccgtgg
      361 gctttggaga gagctggaag aagcacctca gcggggagtt cgggaaaccg tattttatca
      421 agctaatggg atttgttgca gaagaaagaa agcattacac tgtttatcca cccccacacc
      481 aagtcttcac ctggacccag atgtgtgaca taaaagatgt gaaggttgtc atcctgggac
      541 aggatccata tcatggacct aatcaagctc acgggctctg ctttagtgtt caaaggcctg
      601 ttccgcctcc gcccagtttg gagaacattt ataaagagtt gtctacagac atagaggatt
      661 ttgttcatcc tggccatgga gatttatctg ggtgggccaa gcaaggtgtt ctccttctca
      721 acgctgtcct cacggttcgt gcccatcaag ccaactctca taaggagcga ggctgggagc
      781 agttcactga tgcagttgtg tcctggctaa atcagaactc gaatggcctt gttttcttgc
      841 tctggggctc ttatgctcag aagaagggca gtgccattga taggaagcgg caccatgtac
      901 tacagacggc tcatccctcc cctttgtcag tgtatagagg gttctttgga tgtagacact
      961 tttcaaagac caatgagctg ctgcagaagt ctggcaagaa gcccattgac tggaaggagc
     1021 tgtgatcatc agctgagggg tggcctttga gaagctgctg ttaacgtatt tgccagttac
     1081 gaagttccac tgaaaatttt cctattaatt cttaagtact ctgcataagg gggaaaagct
     1141 tccagaaagc agccatgaac caggctgtcc aggaatggca gctgtatcca accacaaaca
     1201 acaaaggcta ccctttgacc aaatgtcttt ctctgcaaca tggcttcggc ctaaaatatg
     1261 cagaagacag atgaggtcaa atactcagtt ggctctcttt atctcccttg cctttatggt
     1321 gaaacagggg agatgtgcac ctttcaggca cagccctagt ttggcgcctg ctgctccttg
     1381 gttttgcctg gttagacttt cagtgacaga tgttggggtg tttttgctta gaaaggtccc
     1441 cttgtctcag ccttgcaggg caggcatgcc agtctctgcc agttccactg cccccttgat
     1501 ctttgaagga gtcctcaggc ccctcgcagc ataaggatgt tttgcaactt tccagaatct
     1561 ggcccagaaa ttagggctca atttcctgat tgtagtagag gttaagattg ctgtgagctt
     1621 tatcagataa gagaccgaga gaagtaagct gggtcttgtt attccttggg tgttggtgga
     1681 ataagcagtg gaatttgaac aaggaagagg agaaaaggga attttgtctt tatggggtgg
     1741 ggtgattttc tcctagggtt atgtccagtt ggggttttta aggcagcaca gactgccaag
     1801 tactgttttt tttaaccgac tgaaatcact ttgggatatt ttttcctgca acactggaaa
     1861 gttttagttt tttaagaagt actcatgcag atatatatat atatattttt cccagtcctt
     1921 tttttaagag acggtcttta ttgggtctgc acctccatcc ttgatcttgt tagcaatgct
     1981 gtttttgctg ttagtcgggt tagagttggc tctacgcgag gtttgttaat aaaagtttgt
     2041 taaaagtt
//
