LOCUS       NM_001351255            2765 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens single-strand-selective monofunctional uracil-DNA
            glycosylase 1 (SMUG1), transcript variant 25, mRNA.
ACCESSION   NM_001351255 XM_011538117
VERSION     NM_001351255.2
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 2765)
  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 2765)
  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 2765)
  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 2765)
  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 2765)
  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 2765)
  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 2765)
  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 2765)
  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 2765)
  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 2765)
  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_001351255.1.
            
            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 :: SRR18074969.3790608.1,
                                           SRR14038197.828768.1 [ECO:0000332]
            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
            1-116               AC023794.37        156530-156645       c
            117-203             AC023794.37        155479-155565       c
            204-507             AC023794.37        151316-151619       c
            508-2765            AC023794.37        148026-150283       c
FEATURES             Location/Qualifiers
     source          1..2765
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2765
                     /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..116
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            117..203
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            204..507
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             223..1035
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="isoform 1 is encoded by transcript variant 25"
                     /codon_start=1
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform 1"
                     /protein_id="NP_001338184.1"
                     /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            508..2765
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1640..1645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      1678
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="major polyA site"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      2765
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
ORIGIN      
        1 aaaggaaccg gaaacgggat ggggagctgg accaggtgag gaagtagggg gctgggaatc
       61 cgggactgtg ggggcaagtt gacggctccc agggtcgtcg gggctgagcc gagaggcaga
      121 ttatgagctt acagaaagcc tggcctacat tttactcttt ttggatttct tcctcatcaa
      181 gagactgctg cagtgcctgt catgtgacag cggcatggac atatgcccca ggctttcctg
      241 ctggggtcca tccatgagcc tgcaggtgcc ctcatggagc cccagccctg ccctggaagc
      301 ttggctgaga gcttcctgga ggaggagctt cggctcaatg ctgagctgag ccagctgcag
      361 ttttcggagc ctgtgggcat catctacaat cccgtggagt atgcatggga gccacatcgc
      421 aactacgtga ctcgctactg ccagggcccc aaggaagtac tcttcctggg catgaaccct
      481 ggaccttttg gcatggccca gactggggtg ccctttgggg aagtaagcat ggtccgggac
      541 tggttgggca ttgtggggcc tgtgctgacc cctccccaag agcatcctaa acgaccagtg
      601 ctgggactgg agtgcccaca gtcagaagtg agtggtgccc gattctgggg ctttttccgg
      661 aacctctgtg gacagcctga ggtcttcttc catcactgtt ttgtccacaa tctatgccct
      721 ctgcttttcc tggctcccag cgggcgcaac cttactcctg ctgagctgcc tgccaagcag
      781 cgagaacagc ttcttgggat ctgtgatgca gccctctgcc ggcaggtgca gctgctgggg
      841 gtgcggctgg tggtgggagt tgggcgactg gcagagcagc gggcacgacg ggctctggca
      901 ggcctgatgc cagaggtcca ggtggaaggg ctcctgcatc cctctccccg taacccacag
      961 gccaacaagg gctgggaggc agtggccaag gaaagattga atgagctggg gctgctgcca
     1021 ctgctgttga aatgagtgcc cttggggcct tgcatgggac acattcaaga cctcgaagtc
     1081 attcttggcc aagcagatga caacacatct cctggactgg agcaaaaggt ccttctgtgc
     1141 accctggtcg ctgggaaacg tattctttga tctgttgaac tgtcttccaa cctgccatgg
     1201 cagttttgac actactcctg tttgccctcc tgattcctgc tttctttacc ttttaacatt
     1261 gcccctttca ggggacccca ctttgtaggg aatctgcaga aggtgtgctt ttgcacttgc
     1321 agactgctct acctcagtgt ttccttggga gactttattc agctgagagt gccctagaca
     1381 gtaacttcta aggtcacgtt tactatttca gaggaaatat cttgccagga tacctaccca
     1441 tccttataga acagttacct ttagctgacc cctttcctca cagggaccaa gacaaagcat
     1501 gggacatgaa attaagagtg aacttcttat gggaggctgc agctggatca gaggaaaaat
     1561 ccagtgtgac agagtgcaag tcagaagacc tggcttttca tcccagcttt gaaacttgga
     1621 actttttgat tgacaaatta ataaacctct ctatgcctca ggctcctcat ctgtaaaaca
     1681 gggatgccta ccttatgggg ttggtgtgag gattaactga gatcacactt gaaagtgcct
     1741 tgcatgggct tggcatgtgg gtgctcatta catagtcttc ttgttttctt gcctctgggt
     1801 tgaggattca cagcactgca ctacaagggt agcccctctc cattctggat accttgctag
     1861 gagagagtct gggcttccac ctgcggccag ggtgaaggga aaattcttgc catgtcagag
     1921 atggatcaat gactatgaaa aaactagcct gtgatttttt ttcactctaa gcattaagag
     1981 ctcctaaagc cttttgtctt gttacttttt tccccctctt gcatgctaga ggtggaaggt
     2041 agtcatttag atttcccccc tcttccctct tcattgttgg ccaggggttc tcttgggcag
     2101 ctgggggaag gatgtagtag atctctcttt tttttttttt tttgagatgg agtctcatgc
     2161 tgttgcccag gctggagtgc agtggcatgg tctcagttca ctgcaacatc tgctttcccg
     2221 gttcaagtga ttctcctgcc tcagcctcct gtatagctgg aattacaggc atgtgccacc
     2281 acgcctggct aatttttgta tttttattaa agacagtgtt tcaccatgtt ggccaggctg
     2341 gtctcaaact cctgacttca agtaatccac ctgtcttggc ctcccaaagt gctgctgcct
     2401 ggctggatgt agcagatctc caattgcctt accaaacctg cagggtctct gttaagtgtc
     2461 tgttaggggt cttatatgat actctggaca ccgtgagaaa caggtgatgg ggcagatggg
     2521 aacctggtat ccaactcatt ttttatgtct gctgaatggt tgactgggtg cccctttggt
     2581 aagggctggg aaagtgaacc aagttgggag cagagcaggt cttgagacca ccttaatgag
     2641 gaacacatgg tctacttcct atctcctggg acacaggtca tttccagctt ccagaattag
     2701 taagattttt catataaatc ctcccctact tcattgtata ataaagaatt tggcctttgt
     2761 cttca
//
