LOCUS       NM_001351258            2026 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens single-strand-selective monofunctional uracil-DNA
            glycosylase 1 (SMUG1), transcript variant 28, mRNA.
ACCESSION   NM_001351258
VERSION     NM_001351258.2
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 2026)
  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 2026)
  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 2026)
  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 2026)
  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 2026)
  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 2026)
  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 2026)
  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 2026)
  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 2026)
  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 2026)
  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 Jun 2, 2019 this sequence version replaced NM_001351258.1.
            
            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##
            CDS exon combination :: ERR4368410.288823.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AC023794.37        156611-156645       c
            36-122              AC023794.37        155479-155565       c
            123-426             AC023794.37        151316-151619       c
            427-744             AC023794.37        149966-150283       c
            745-2026            AC023794.37        148026-149307       c
FEATURES             Location/Qualifiers
     source          1..2026
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2026
                     /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..122
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            123..426
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..873
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="isoform 3 is encoded by transcript variant 28"
                     /codon_start=1
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform 3"
                     /protein_id="NP_001338187.1"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
                     /translation="MPQAFLLGSIHEPAGALMEPQPCPGSLAESFLEEELRLNAELSQ
                     LQFSEPVGIIYNPVEYAWEPHRNYVTRYCQGPKEVLFLGMNPGPFGMAQTGVPFGEVS
                     MVRDWLGIVGPVLTPPQEHPKRPVLGLECPQSEVSGARFWGFFRNLCGQPEVFFHHCF
                     VHNLCPLLFLAPSGRNLTPAELPAKQREQLLGICDAALCRQGPRQSMGHEIKSELLMG
                     GCSWIRGKIQCDRVQVRRPGFSSQL"
     exon            427..744
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            745..2026
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      901..906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      939
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="major polyA site"
     regulatory      2001..2006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      2026
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
ORIGIN      
        1 aaaggaaccg gaaacgggat ggggagctgg accagcagat tatgagctta cagaaagcct
       61 ggcctacatt ttactctttt tggatttctt cctcatcaag agactgctgc agtgcctgtc
      121 atgtgacagc ggcatggaca tatgccccag gctttcctgc tggggtccat ccatgagcct
      181 gcaggtgccc tcatggagcc ccagccctgc cctggaagct tggctgagag cttcctggag
      241 gaggagcttc ggctcaatgc tgagctgagc cagctgcagt tttcggagcc tgtgggcatc
      301 atctacaatc ccgtggagta tgcatgggag ccacatcgca actacgtgac tcgctactgc
      361 cagggcccca aggaagtact cttcctgggc atgaaccctg gaccttttgg catggcccag
      421 actggggtgc cctttgggga agtaagcatg gtccgggact ggttgggcat tgtggggcct
      481 gtgctgaccc ctccccaaga gcatcctaaa cgaccagtgc tgggactgga gtgcccacag
      541 tcagaagtga gtggtgcccg attctggggc tttttccgga acctctgtgg acagcctgag
      601 gtcttcttcc atcactgttt tgtccacaat ctatgccctc tgcttttcct ggctcccagc
      661 gggcgcaacc ttactcctgc tgagctgcct gccaagcagc gagaacagct tcttgggatc
      721 tgtgatgcag ccctctgccg gcagggacca agacaaagca tgggacatga aattaagagt
      781 gaacttctta tgggaggctg cagctggatc agaggaaaaa tccagtgtga cagagtgcaa
      841 gtcagaagac ctggcttttc atcccagctt tgaaacttgg aactttttga ttgacaaatt
      901 aataaacctc tctatgcctc aggctcctca tctgtaaaac agggatgcct accttatggg
      961 gttggtgtga ggattaactg agatcacact tgaaagtgcc ttgcatgggc ttggcatgtg
     1021 ggtgctcatt acatagtctt cttgttttct tgcctctggg ttgaggattc acagcactgc
     1081 actacaaggg tagcccctct ccattctgga taccttgcta ggagagagtc tgggcttcca
     1141 cctgcggcca gggtgaaggg aaaattcttg ccatgtcaga gatggatcaa tgactatgaa
     1201 aaaactagcc tgtgattttt tttcactcta agcattaaga gctcctaaag ccttttgtct
     1261 tgttactttt ttccccctct tgcatgctag aggtggaagg tagtcattta gatttccccc
     1321 ctcttccctc ttcattgttg gccaggggtt ctcttgggca gctgggggaa ggatgtagta
     1381 gatctctctt tttttttttt ttttgagatg gagtctcatg ctgttgccca ggctggagtg
     1441 cagtggcatg gtctcagttc actgcaacat ctgctttccc ggttcaagtg attctcctgc
     1501 ctcagcctcc tgtatagctg gaattacagg catgtgccac cacgcctggc taatttttgt
     1561 atttttatta aagacagtgt ttcaccatgt tggccaggct ggtctcaaac tcctgacttc
     1621 aagtaatcca cctgtcttgg cctcccaaag tgctgctgcc tggctggatg tagcagatct
     1681 ccaattgcct taccaaacct gcagggtctc tgttaagtgt ctgttagggg tcttatatga
     1741 tactctggac accgtgagaa acaggtgatg gggcagatgg gaacctggta tccaactcat
     1801 tttttatgtc tgctgaatgg ttgactgggt gcccctttgg taagggctgg gaaagtgaac
     1861 caagttggga gcagagcagg tcttgagacc accttaatga ggaacacatg gtctacttcc
     1921 tatctcctgg gacacaggtc atttccagct tccagaatta gtaagatttt tcatataaat
     1981 cctcccctac ttcattgtat aataaagaat ttggcctttg tcttca
//
