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    Smug1 single-strand selective monofunctional uracil DNA glycosylase [ Mus musculus (house mouse) ]

    Gene ID: 71726, updated on 22-May-2024

    Summary

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    Official Symbol
    Smug1provided by MGI
    Official Full Name
    single-strand selective monofunctional uracil DNA glycosylaseprovided by MGI
    Primary source
    MGI:MGI:1918976
    See related
    Ensembl:ENSMUSG00000036061 AllianceGenome:MGI:1918976
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1200013B09Rik; A930006H09Rik
    Summary
    Predicted to enable DNA N-glycosylase activity; identical protein binding activity; and single-stranded DNA binding activity. Predicted to be involved in base-excision repair. Predicted to act upstream of or within cellular response to DNA damage stimulus. Predicted to be located in cytosol; fibrillar center; and nucleoplasm. Is expressed in several structures, including lower urogenital tract; palatal shelf; reproductive system; retina layer; and urethra epithelium. Orthologous to human SMUG1 (single-strand-selective monofunctional uracil-DNA glycosylase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 4.2), whole brain E14.5 (RPKM 3.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Smug1 in Genome Data Viewer
    Location:
    15 F3; 15 58.2 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (103061717..103077360, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (103153290..103168939, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene 28876 Neighboring gene predicted gene 10830 Neighboring gene Riken cDNA D930007P13 gene Neighboring gene STARR-positive B cell enhancer mm9_chr15:102993642-102993943 Neighboring gene STARR-seq mESC enhancer starr_39867 Neighboring gene chromobox 5 Neighboring gene STARR-seq mESC enhancer starr_39868 Neighboring gene heterogeneous nuclear ribonucleoprotein A1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. SMUG1 regulates fat homeostasis leading to a fatty liver phenotype in mice. Carracedo S, et al. DNA Repair (Amst), 2022 Dec. PMID 36244177
    2. SMUG1 Promotes Telomere Maintenance through Telomerase RNA Processing. Kroustallaki P, et al. Cell Rep, 2019 Aug 13. PMID 31412240
    3. Uracil excision by endogenous SMUG1 glycosylase promotes efficient Ig class switching and impacts on A:T substitutions during somatic mutation. Dingler FA, et al. Eur J Immunol, 2014 Jul. PMID 24771041, Free PMC Article
    4. Excision of deaminated cytosine from the vertebrate genome: role of the SMUG1 uracil-DNA glycosylase. Nilsen H, et al. EMBO J, 2001 Aug 1. PMID 11483530, Free PMC Article
    5. C --> T mutagenesis and gamma-radiation sensitivity due to deficiency in the Smug1 and Ung DNA glycosylases. An Q, et al. EMBO J, 2005 Jun 15. PMID 15902269, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SMUG1 regulates fat homeostasis leading to a fatty liver phenotype in mice.
      Title: SMUG1 regulates fat homeostasis leading to a fatty liver phenotype in mice.
    2. we showed that SMUG1 efficiently prevent genomic uracil accumulation, even in the presence of UNG, and identified mutational signatures associated with combined UNG and SMUG1 deficiency.
      Title: Uracil Accumulation and Mutagenesis Dominated by Cytosine Deamination in CpG Dinucleotides in Mice Lacking UNG and SMUG1.
    3. Nonetheless, using a highly MSH2-dependent mechanism, Ung(-/-) Smug1(-/-) mice can still produce detectable levels of switched isotypes, especially IgG1
      Title: Uracil excision by endogenous SMUG1 glycosylase promotes efficient Ig class switching and impacts on A:T substitutions during somatic mutation.
    4. SMUG1 is the dominant glycosylase responsible for 5-hydroxymethyluracil-excision in mice as well as the major UNG-backup for U-excision.
      Title: Germline ablation of SMUG1 DNA glycosylase causes loss of 5-hydroxymethyluracil- and UNG-backup uracil-excision activities and increases cancer predisposition of Ung-/-Msh2-/- mice.
    5. analysis of species specific differences between mouse and humans in regulation of SMUG1 and UNG2
      Title: Uracil-DNA glycosylase in base excision repair and adaptive immunity: species differences between man and mouse.
    6. The structure and specificity of SMUG1 have been solved.
      Title: Structure and specificity of the vertebrate anti-mutator uracil-DNA glycosylase SMUG1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA N-glycosylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA N-glycosylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxidized base lesion DNA N-glycosylase activity ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    enables oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-strand selective uracil DNA N-glycosylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-strand selective uracil DNA N-glycosylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables single-stranded DNA binding ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    enables uracil DNA N-glycosylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables uracil DNA N-glycosylase activity ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    enables uracil DNA N-glycosylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables uracil DNA N-glycosylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    involved_in DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in base-excision repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in base-excision repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in fibrillar center ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    single-strand selective monofunctional uracil DNA glycosylase

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_027885.3 → NP_082161.2  single-strand selective monofunctional uracil DNA glycosylase

      See identical proteins and their annotated locations for NP_082161.2

      Status: PROVISIONAL

      Source sequence(s)
      AC162693
      Consensus CDS
      CCDS27898.1
      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Related
      ENSMUSP00000155700.2, ENSMUST00000229377.2
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      103061717..103077360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245731.4 → XP_011244033.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      See identical proteins and their annotated locations for XP_011244033.1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    2. XM_006521415.4 → XP_006521478.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      See identical proteins and their annotated locations for XP_006521478.1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Related
      ENSMUSP00000155594.2, ENSMUST00000229371.2
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    3. XM_011245732.3 → XP_011244034.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      See identical proteins and their annotated locations for XP_011244034.1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    4. XM_036159593.1 → XP_036015486.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    5. XM_011245733.3 → XP_011244035.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      See identical proteins and their annotated locations for XP_011244035.1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    6. XM_036159594.1 → XP_036015487.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    7. XM_036159595.1 → XP_036015488.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins

    8. XM_017316752.1 → XP_017172241.1  single-strand selective monofunctional uracil DNA glycosylase isoform X1

      UniProtKB/Swiss-Prot
      Q6P5C5, Q9DBV1
      UniProtKB/TrEMBL
      Q3T9H8
      Conserved Domains (1) summary
      cd19374
      Location:31 → 260
      UDG-F3_SMUG1-like; Uracil DNA glycosylase family 3 subfamily, includes single-strand-selective monofunctional uracil-DNA glycosylase 1 and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P5C5.1 GenPept UniProtKB/Swiss-Prot:Q6P5C5

    Gene LinkOut

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