LOCUS       NM_001351260            2570 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens single-strand-selective monofunctional uracil-DNA
            glycosylase 1 (SMUG1), transcript variant 30, mRNA.
ACCESSION   NM_001351260
VERSION     NM_001351260.2
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 2570)
  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 2570)
  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 2570)
  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 2570)
  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 2570)
  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 2570)
  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 2570)
  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 2570)
  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 2570)
  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 2570)
  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_001351260.1.
            
            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 :: SRR1660809.49953.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AC023794.37        156611-156645       c
            36-117              AC023794.37        156175-156256       c
            118-312             AC023794.37        151425-151619       c
            313-2570            AC023794.37        148026-150283       c
FEATURES             Location/Qualifiers
     source          1..2570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2570
                     /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..117
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            118..312
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            313..2570
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             334..840
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="isoform 4 is encoded by transcript variant 30"
                     /codon_start=1
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform 4"
                     /protein_id="NP_001338189.1"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
                     /translation="MVRDWLGIVGPVLTPPQEHPKRPVLGLECPQSEVSGARFWGFFR
                     NLCGQPEVFFHHCFVHNLCPLLFLAPSGRNLTPAELPAKQREQLLGICDAALCRQVQL
                     LGVRLVVGVGRLAEQRARRALAGLMPEVQVEGLLHPSPRNPQANKGWEAVAKERLNEL
                     GLLPLLLK"
     regulatory      1445..1450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      1483
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="major polyA site"
     regulatory      2545..2550
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /note="hexamer: AATAAA"
     polyA_site      2570
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
ORIGIN      
        1 aaaggaaccg gaaacgggat ggggagctgg accaggctgg agtgcaatgg cgcgatctca
       61 gctcactgca gcctccgcct cccgggttca agcgattctt ctgcctcagc ctcccgagtg
      121 acagcggcat ggacatatgc cccaggcttt cctgctgggg tccatccatg agcctgcagg
      181 tgccctcatg gagccccagc cctgccctgg aagcttggct gagagcttcc tggaggagga
      241 gcttcggctc aatgctgagc tgagccagct gcagttttcg gagcctgtgg gcatcatcta
      301 caatcccgtg gagtgccctt tggggaagta agcatggtcc gggactggtt gggcattgtg
      361 gggcctgtgc tgacccctcc ccaagagcat cctaaacgac cagtgctggg actggagtgc
      421 ccacagtcag aagtgagtgg tgcccgattc tggggctttt tccggaacct ctgtggacag
      481 cctgaggtct tcttccatca ctgttttgtc cacaatctat gccctctgct tttcctggct
      541 cccagcgggc gcaaccttac tcctgctgag ctgcctgcca agcagcgaga acagcttctt
      601 gggatctgtg atgcagccct ctgccggcag gtgcagctgc tgggggtgcg gctggtggtg
      661 ggagttgggc gactggcaga gcagcgggca cgacgggctc tggcaggcct gatgccagag
      721 gtccaggtgg aagggctcct gcatccctct ccccgtaacc cacaggccaa caagggctgg
      781 gaggcagtgg ccaaggaaag attgaatgag ctggggctgc tgccactgct gttgaaatga
      841 gtgcccttgg ggccttgcat gggacacatt caagacctcg aagtcattct tggccaagca
      901 gatgacaaca catctcctgg actggagcaa aaggtccttc tgtgcaccct ggtcgctggg
      961 aaacgtattc tttgatctgt tgaactgtct tccaacctgc catggcagtt ttgacactac
     1021 tcctgtttgc cctcctgatt cctgctttct ttacctttta acattgcccc tttcagggga
     1081 ccccactttg tagggaatct gcagaaggtg tgcttttgca cttgcagact gctctacctc
     1141 agtgtttcct tgggagactt tattcagctg agagtgccct agacagtaac ttctaaggtc
     1201 acgtttacta tttcagagga aatatcttgc caggatacct acccatcctt atagaacagt
     1261 tacctttagc tgaccccttt cctcacaggg accaagacaa agcatgggac atgaaattaa
     1321 gagtgaactt cttatgggag gctgcagctg gatcagagga aaaatccagt gtgacagagt
     1381 gcaagtcaga agacctggct tttcatccca gctttgaaac ttggaacttt ttgattgaca
     1441 aattaataaa cctctctatg cctcaggctc ctcatctgta aaacagggat gcctacctta
     1501 tggggttggt gtgaggatta actgagatca cacttgaaag tgccttgcat gggcttggca
     1561 tgtgggtgct cattacatag tcttcttgtt ttcttgcctc tgggttgagg attcacagca
     1621 ctgcactaca agggtagccc ctctccattc tggatacctt gctaggagag agtctgggct
     1681 tccacctgcg gccagggtga agggaaaatt cttgccatgt cagagatgga tcaatgacta
     1741 tgaaaaaact agcctgtgat tttttttcac tctaagcatt aagagctcct aaagcctttt
     1801 gtcttgttac ttttttcccc ctcttgcatg ctagaggtgg aaggtagtca tttagatttc
     1861 ccccctcttc cctcttcatt gttggccagg ggttctcttg ggcagctggg ggaaggatgt
     1921 agtagatctc tctttttttt ttttttttga gatggagtct catgctgttg cccaggctgg
     1981 agtgcagtgg catggtctca gttcactgca acatctgctt tcccggttca agtgattctc
     2041 ctgcctcagc ctcctgtata gctggaatta caggcatgtg ccaccacgcc tggctaattt
     2101 ttgtattttt attaaagaca gtgtttcacc atgttggcca ggctggtctc aaactcctga
     2161 cttcaagtaa tccacctgtc ttggcctccc aaagtgctgc tgcctggctg gatgtagcag
     2221 atctccaatt gccttaccaa acctgcaggg tctctgttaa gtgtctgtta ggggtcttat
     2281 atgatactct ggacaccgtg agaaacaggt gatggggcag atgggaacct ggtatccaac
     2341 tcatttttta tgtctgctga atggttgact gggtgcccct ttggtaaggg ctgggaaagt
     2401 gaaccaagtt gggagcagag caggtcttga gaccacctta atgaggaaca catggtctac
     2461 ttcctatctc ctgggacaca ggtcatttcc agcttccaga attagtaaga tttttcatat
     2521 aaatcctccc ctacttcatt gtataataaa gaatttggcc tttgtcttca
//
