LOCUS       NM_001243787            2681 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens single-strand-selective monofunctional uracil-DNA
            glycosylase 1 (SMUG1), transcript variant 2, mRNA.
ACCESSION   NM_001243787
VERSION     NM_001243787.2
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 2681)
  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 2681)
  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 2681)
  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 2681)
  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 2681)
  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 2681)
  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 2681)
  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 2681)
  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 2681)
  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 2681)
  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 BG706635.1, AK222473.1,
            CD245413.1, AC023794.37 and AI002776.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_001243787.1.
            
            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 :: SRR1803611.175389.1,
                                           SRR14038194.2506877.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682136.1/ ENSP00000507590.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BG706635.1         13-24
            13-346              AK222473.1         1-334
            347-836             CD245413.1         236-725
            837-2560            AC023794.37        148147-149870       c
            2561-2681           AI002776.1         27-147              c
FEATURES             Location/Qualifiers
     source          1..2681
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2681
                     /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..35
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            36..119
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            120..423
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..951
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform 1"
                     /protein_id="NP_001230716.1"
                     /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            424..2681
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1556..1561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      1594
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="major polyA site"
     regulatory      2656..2661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      2681
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
ORIGIN      
        1 aaaggaaccg gaaacgggat ggggagctgg accagattat gagcttacag aaagcctggc
       61 ctacatttta ctctttttgg atttcttcct catcaagaga ctgctgcagt gcctgtcatg
      121 tgacagcggc atggacatat gccccaggct ttcctgctgg ggtccatcca tgagcctgca
      181 ggtgccctca tggagcccca gccctgccct ggaagcttgg ctgagagctt cctggaggag
      241 gagcttcggc tcaatgctga gctgagccag ctgcagtttt cggagcctgt gggcatcatc
      301 tacaatcccg tggagtatgc atgggagcca catcgcaact acgtgactcg ctactgccag
      361 ggccccaagg aagtactctt cctgggcatg aaccctggac cttttggcat ggcccagact
      421 ggggtgccct ttggggaagt aagcatggtc cgggactggt tgggcattgt ggggcctgtg
      481 ctgacccctc cccaagagca tcctaaacga ccagtgctgg gactggagtg cccacagtca
      541 gaagtgagtg gtgcccgatt ctggggcttt ttccggaacc tctgtggaca gcctgaggtc
      601 ttcttccatc actgttttgt ccacaatcta tgccctctgc ttttcctggc tcccagcggg
      661 cgcaacctta ctcctgctga gctgcctgcc aagcagcgag aacagcttct tgggatctgt
      721 gatgcagccc tctgccggca ggtgcagctg ctgggggtgc ggctggtggt gggagttggg
      781 cgactggcag agcagcgggc acgacgggct ctggcaggcc tgatgccaga ggtccaggtg
      841 gaagggctcc tgcatccctc tccccgtaac ccacaggcca acaagggctg ggaggcagtg
      901 gccaaggaaa gattgaatga gctggggctg ctgccactgc tgttgaaatg agtgcccttg
      961 gggccttgca tgggacacat tcaagacctc gaagtcattc ttggccaagc agatgacaac
     1021 acatctcctg gactggagca aaaggtcctt ctgtgcaccc tggtcgctgg gaaacgtatt
     1081 ctttgatctg ttgaactgtc ttccaacctg ccatggcagt tttgacacta ctcctgtttg
     1141 ccctcctgat tcctgctttc tttacctttt aacattgccc ctttcagggg accccacttt
     1201 gtagggaatc tgcagaaggt gtgcttttgc acttgcagac tgctctacct cagtgtttcc
     1261 ttgggagact ttattcagct gagagtgccc tagacagtaa cttctaaggt cacgtttact
     1321 atttcagagg aaatatcttg ccaggatacc tacccatcct tatagaacag ttacctttag
     1381 ctgacccctt tcctcacagg gaccaagaca aagcatggga catgaaatta agagtgaact
     1441 tcttatggga ggctgcagct ggatcagagg aaaaatccag tgtgacagag tgcaagtcag
     1501 aagacctggc ttttcatccc agctttgaaa cttggaactt tttgattgac aaattaataa
     1561 acctctctat gcctcaggct cctcatctgt aaaacaggga tgcctacctt atggggttgg
     1621 tgtgaggatt aactgagatc acacttgaaa gtgccttgca tgggcttggc atgtgggtgc
     1681 tcattacata gtcttcttgt tttcttgcct ctgggttgag gattcacagc actgcactac
     1741 aagggtagcc cctctccatt ctggatacct tgctaggaga gagtctgggc ttccacctgc
     1801 ggccagggtg aagggaaaat tcttgccatg tcagagatgg atcaatgact atgaaaaaac
     1861 tagcctgtga ttttttttca ctctaagcat taagagctcc taaagccttt tgtcttgtta
     1921 cttttttccc cctcttgcat gctagaggtg gaaggtagtc atttagattt cccccctctt
     1981 ccctcttcat tgttggccag gggttctctt gggcagctgg gggaaggatg tagtagatct
     2041 ctcttttttt tttttttttg agatggagtc tcatgctgtt gcccaggctg gagtgcagtg
     2101 gcatggtctc agttcactgc aacatctgct ttcccggttc aagtgattct cctgcctcag
     2161 cctcctgtat agctggaatt acaggcatgt gccaccacgc ctggctaatt tttgtatttt
     2221 tattaaagac agtgtttcac catgttggcc aggctggtct caaactcctg acttcaagta
     2281 atccacctgt cttggcctcc caaagtgctg ctgcctggct ggatgtagca gatctccaat
     2341 tgccttacca aacctgcagg gtctctgtta agtgtctgtt aggggtctta tatgatactc
     2401 tggacaccgt gagaaacagg tgatggggca gatgggaacc tggtatccaa ctcatttttt
     2461 atgtctgctg aatggttgac tgggtgcccc tttggtaagg gctgggaaag tgaaccaagt
     2521 tgggagcaga gcaggtcttg agaccacctt aatgaggaac acatggtcta cttcctatct
     2581 cctgggacac aggtcatttc cagcttccag aattagtaag atttttcata taaatcctcc
     2641 cctacttcat tgtataataa agaatttggc ctttgtcttc a
//
