LOCUS       NM_001351254            3121 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens single-strand-selective monofunctional uracil-DNA
            glycosylase 1 (SMUG1), transcript variant 24, mRNA.
ACCESSION   NM_001351254 XM_011538113
VERSION     NM_001351254.2
KEYWORDS    RefSeq.
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 3121)
  AUTHORS   Cumova,A., Vymetalkova,V., Opattova,A., Bouskova,V., Pardini,B.,
            Kopeckova,K., Kozevnikovova,R., Lickova,K., Ambrus,M.,
            Vodickova,L., Naccarati,A., Soucek,P. and Vodicka,P.
  TITLE     Genetic variations in 3'UTRs of SMUG1 and NEIL2 genes modulate
            breast cancer risk, survival and therapy response
  JOURNAL   Mutagenesis 36 (4), 269-279 (2021)
   PUBMED   34097065
  REMARK    GeneRIF: Genetic variations in 3'UTRs of SMUG1 and NEIL2 genes
            modulate breast cancer risk, survival and therapy response.
REFERENCE   2  (bases 1 to 3121)
  AUTHORS   Alekseeva,I.V., Bakman,A.S., Iakovlev,D.A., Kuznetsov,N.A. and
            Fedorova,O.S.
  TITLE     [Comparative Analysis of the Activity of the Polymorphic Variants
            of Human Uracil-DNA-Glycosylases SMUG1 and MBD4]
  JOURNAL   Mol Biol (Mosk) 55 (2), 277-288 (2021)
   PUBMED   33871441
  REMARK    GeneRIF: [Comparative Analysis of the Activity of the Polymorphic
            Variants of Human Uracil-DNA-Glycosylases SMUG1 and MBD4].
REFERENCE   3  (bases 1 to 3121)
  AUTHORS   An,M.J., Shin,G.S., Lee,H.M. and Kim,J.W.
  TITLE     Ablation of SMUG1 Reduces Cell Viability and Increases UVC-Mediated
            Apoptosis in Hepatocarcinoma HepG2 Cells
  JOURNAL   Genes (Basel) 12 (2), 201 (2021)
   PUBMED   33573186
  REMARK    GeneRIF: Ablation of SMUG1 Reduces Cell Viability and Increases
            UVC-Mediated Apoptosis in Hepatocarcinoma HepG2 Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3121)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3121)
  AUTHORS   Wibley,J.E., Waters,T.R., Haushalter,K., Verdine,G.L. and
            Pearl,L.H.
  TITLE     Structure and specificity of the vertebrate anti-mutator uracil-DNA
            glycosylase SMUG1
  JOURNAL   Mol Cell 11 (6), 1647-1659 (2003)
   PUBMED   12820976
  REMARK    GeneRIF: The structure and specificity of SMUG1 have been solved.
REFERENCE   6  (bases 1 to 3121)
  AUTHORS   Masaoka,A., Matsubara,M., Hasegawa,R., Tanaka,T., Kurisu,S.,
            Terato,H., Ohyama,Y., Karino,N., Matsuda,A. and Ide,H.
  TITLE     Mammalian 5-formyluracil-DNA glycosylase. 2. Role of SMUG1
            uracil-DNA glycosylase in repair of 5-formyluracil and other
            oxidized and deaminated base lesions
  JOURNAL   Biochemistry 42 (17), 5003-5012 (2003)
   PUBMED   12718543
  REMARK    GeneRIF: This enzyme has a role in repair of 5-formyluracil and
            other oxidized and deaminated base lesions.
REFERENCE   7  (bases 1 to 3121)
  AUTHORS   Kavli,B., Sundheim,O., Akbari,M., Otterlei,M., Nilsen,H.,
            Skorpen,F., Aas,P.A., Hagen,L., Krokan,H.E. and Slupphaug,G.
  TITLE     hUNG2 is the major repair enzyme for removal of uracil from U:A
            matches, U:G mismatches, and U in single-stranded DNA, with hSMUG1
            as a broad specificity backup
  JOURNAL   J Biol Chem 277 (42), 39926-39936 (2002)
   PUBMED   12161446
  REMARK    GeneRIF: hSMUG1 is a broad specificity backup for hUNG2, the major
            enzyme for removal of deaminated cytosine in single strnaded DNA
REFERENCE   8  (bases 1 to 3121)
  AUTHORS   Sokhansanj,B.A., Rodrigue,G.R., Fitch,J.P. and Wilson,D.M. 3rd.
  TITLE     A quantitative model of human DNA base excision repair. I.
            Mechanistic insights
  JOURNAL   Nucleic Acids Res 30 (8), 1817-1825 (2002)
   PUBMED   11937636
REFERENCE   9  (bases 1 to 3121)
  AUTHORS   Boorstein,R.J., Cummings,A. Jr., Marenstein,D.R., Chan,M.K., Ma,Y.,
            Neubert,T.A., Brown,S.M. and Teebor,G.W.
  TITLE     Definitive identification of mammalian 5-hydroxymethyluracil DNA
            N-glycosylase activity as SMUG1
  JOURNAL   J Biol Chem 276 (45), 41991-41997 (2001)
   PUBMED   11526119
REFERENCE   10 (bases 1 to 3121)
  AUTHORS   Haushalter,K.A., Todd Stukenberg,M.W., Kirschner,M.W. and
            Verdine,G.L.
  TITLE     Identification of a new uracil-DNA glycosylase family by expression
            cloning using synthetic inhibitors
  JOURNAL   Curr Biol 9 (4), 174-185 (1999)
   PUBMED   10074426
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023794.37.
            
            On Aug 13, 2020 this sequence version replaced NM_001351254.1.
            
            Summary: This gene encodes a protein that participates in base
            excision repair by removing uracil from single- and double-stranded
            DNA. Many alternatively spliced transcript variants exist for this
            gene; the full-length nature is known for some but not all of the
            variants. [provided by RefSeq, Aug 2011].
            
            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 :: SRR1660803.172981.1,
                                           SRR7410570.506206.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-475               AC023794.37        156171-156645       c
            476-559             AC023794.37        155479-155562       c
            560-863             AC023794.37        151316-151619       c
            864-3121            AC023794.37        148026-150283       c
FEATURES             Location/Qualifiers
     source          1..3121
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..3121
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="single-strand-selective monofunctional uracil-DNA
                     glycosylase 1"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
     exon            1..475
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            476..559
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            560..863
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             579..1391
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="isoform 1 is encoded by transcript variant 24"
                     /codon_start=1
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform 1"
                     /protein_id="NP_001338183.1"
                     /db_xref="CCDS:CCDS8874.1"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
                     /translation="MPQAFLLGSIHEPAGALMEPQPCPGSLAESFLEEELRLNAELSQ
                     LQFSEPVGIIYNPVEYAWEPHRNYVTRYCQGPKEVLFLGMNPGPFGMAQTGVPFGEVS
                     MVRDWLGIVGPVLTPPQEHPKRPVLGLECPQSEVSGARFWGFFRNLCGQPEVFFHHCF
                     VHNLCPLLFLAPSGRNLTPAELPAKQREQLLGICDAALCRQVQLLGVRLVVGVGRLAE
                     QRARRALAGLMPEVQVEGLLHPSPRNPQANKGWEAVAKERLNELGLLPLLLK"
     exon            864..3121
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1996..2001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      2034
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="major polyA site"
     regulatory      3096..3101
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      3121
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
ORIGIN      
        1 aaaggaaccg gaaacgggat ggggagctgg accaggtgag gaagtagggg gctgggaatc
       61 cgggactgtg ggggcaagtt gacggctccc agggtcgtcg gggctgagcc gagagggtgg
      121 ttagaatttc tatattttgg ggtccctccc tccgtatggg gtaagactca gtgcagggag
      181 agcccagcct atgaaaccgc ctgggaggtc tgcaggatca aggctttcca gtcggccgga
      241 gccagcgggc gcccccggag gttttgtatg gtgccttagt agtcggcccc tttggaacca
      301 gatgaaatgg tctttttgag tttatgcttt attattatta ttgtttattt atttattttt
      361 ctgagacgga attttgctct gaattccagg ctggagtgca atggcgcgat ctcagctcac
      421 tgcagcctcc gcctcccggg ttcaagcgat tcttctgcct cagcctcccg agtagattat
      481 gagcttacag aaagcctggc ctacatttta ctctttttgg atttcttcct catcaagaga
      541 ctgctgcagt gcctgtcatg tgacagcggc atggacatat gccccaggct ttcctgctgg
      601 ggtccatcca tgagcctgca ggtgccctca tggagcccca gccctgccct ggaagcttgg
      661 ctgagagctt cctggaggag gagcttcggc tcaatgctga gctgagccag ctgcagtttt
      721 cggagcctgt gggcatcatc tacaatcccg tggagtatgc atgggagcca catcgcaact
      781 acgtgactcg ctactgccag ggccccaagg aagtactctt cctgggcatg aaccctggac
      841 cttttggcat ggcccagact ggggtgccct ttggggaagt aagcatggtc cgggactggt
      901 tgggcattgt ggggcctgtg ctgacccctc cccaagagca tcctaaacga ccagtgctgg
      961 gactggagtg cccacagtca gaagtgagtg gtgcccgatt ctggggcttt ttccggaacc
     1021 tctgtggaca gcctgaggtc ttcttccatc actgttttgt ccacaatcta tgccctctgc
     1081 ttttcctggc tcccagcggg cgcaacctta ctcctgctga gctgcctgcc aagcagcgag
     1141 aacagcttct tgggatctgt gatgcagccc tctgccggca ggtgcagctg ctgggggtgc
     1201 ggctggtggt gggagttggg cgactggcag agcagcgggc acgacgggct ctggcaggcc
     1261 tgatgccaga ggtccaggtg gaagggctcc tgcatccctc tccccgtaac ccacaggcca
     1321 acaagggctg ggaggcagtg gccaaggaaa gattgaatga gctggggctg ctgccactgc
     1381 tgttgaaatg agtgcccttg gggccttgca tgggacacat tcaagacctc gaagtcattc
     1441 ttggccaagc agatgacaac acatctcctg gactggagca aaaggtcctt ctgtgcaccc
     1501 tggtcgctgg gaaacgtatt ctttgatctg ttgaactgtc ttccaacctg ccatggcagt
     1561 tttgacacta ctcctgtttg ccctcctgat tcctgctttc tttacctttt aacattgccc
     1621 ctttcagggg accccacttt gtagggaatc tgcagaaggt gtgcttttgc acttgcagac
     1681 tgctctacct cagtgtttcc ttgggagact ttattcagct gagagtgccc tagacagtaa
     1741 cttctaaggt cacgtttact atttcagagg aaatatcttg ccaggatacc tacccatcct
     1801 tatagaacag ttacctttag ctgacccctt tcctcacagg gaccaagaca aagcatggga
     1861 catgaaatta agagtgaact tcttatggga ggctgcagct ggatcagagg aaaaatccag
     1921 tgtgacagag tgcaagtcag aagacctggc ttttcatccc agctttgaaa cttggaactt
     1981 tttgattgac aaattaataa acctctctat gcctcaggct cctcatctgt aaaacaggga
     2041 tgcctacctt atggggttgg tgtgaggatt aactgagatc acacttgaaa gtgccttgca
     2101 tgggcttggc atgtgggtgc tcattacata gtcttcttgt tttcttgcct ctgggttgag
     2161 gattcacagc actgcactac aagggtagcc cctctccatt ctggatacct tgctaggaga
     2221 gagtctgggc ttccacctgc ggccagggtg aagggaaaat tcttgccatg tcagagatgg
     2281 atcaatgact atgaaaaaac tagcctgtga ttttttttca ctctaagcat taagagctcc
     2341 taaagccttt tgtcttgtta cttttttccc cctcttgcat gctagaggtg gaaggtagtc
     2401 atttagattt cccccctctt ccctcttcat tgttggccag gggttctctt gggcagctgg
     2461 gggaaggatg tagtagatct ctcttttttt tttttttttg agatggagtc tcatgctgtt
     2521 gcccaggctg gagtgcagtg gcatggtctc agttcactgc aacatctgct ttcccggttc
     2581 aagtgattct cctgcctcag cctcctgtat agctggaatt acaggcatgt gccaccacgc
     2641 ctggctaatt tttgtatttt tattaaagac agtgtttcac catgttggcc aggctggtct
     2701 caaactcctg acttcaagta atccacctgt cttggcctcc caaagtgctg ctgcctggct
     2761 ggatgtagca gatctccaat tgccttacca aacctgcagg gtctctgtta agtgtctgtt
     2821 aggggtctta tatgatactc tggacaccgt gagaaacagg tgatggggca gatgggaacc
     2881 tggtatccaa ctcatttttt atgtctgctg aatggttgac tgggtgcccc tttggtaagg
     2941 gctgggaaag tgaaccaagt tgggagcaga gcaggtcttg agaccacctt aatgaggaac
     3001 acatggtcta cttcctatct cctgggacac aggtcatttc cagcttccag aattagtaag
     3061 atttttcata taaatcctcc cctacttcat tgtataataa agaatttggc ctttgtcttc
     3121 a
//
