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    Ung uracil DNA glycosylase [ Mus musculus (house mouse) ]

    Gene ID: 22256, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Ungprovided by MGI
    Official Full Name
    uracil DNA glycosylaseprovided by MGI
    Primary source
    MGI:MGI:109352
    See related
    Ensembl:ENSMUSG00000029591 AllianceGenome:MGI:109352
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    UNG1; UNG2
    Summary
    Enables uracil DNA N-glycosylase activity. Acts upstream of or within isotype switching and somatic hypermutation of immunoglobulin genes. Located in mitochondrion and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; lung; and olfactory epithelium. Human ortholog(s) of this gene implicated in dysgammaglobulinemia and immunodeficiency with hyper IgM type 5. Orthologous to human UNG (uracil DNA glycosylase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 8.0), CNS E11.5 (RPKM 7.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 55.97 cM; 5 F
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (114268427..114277382)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (114130366..114139321)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene SV2 related protein Neighboring gene predicted gene 16108 Neighboring gene ubiquitin specific peptidase 30 Neighboring gene STARR-seq mESC enhancer starr_14065 Neighboring gene legumain pseudogene Neighboring gene alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase Neighboring gene acetyl-Coenzyme A carboxylase beta Neighboring gene STARR-seq mESC enhancer starr_14069 Neighboring gene STARR-seq mESC enhancer starr_14070 Neighboring gene forkhead box N4

    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. Uracil-DNA glycosylase is not implicated in the choice of the DNA repair pathway during B-cell class switch recombination. Ghazzaui N, et al. Cell Mol Immunol, 2019 Jan. PMID 29735979, Free PMC Article
    2. Impaired dynamics and function of mitochondria caused by mtDNA toxicity leads to heart failure. Lauritzen KH, et al. Am J Physiol Heart Circ Physiol, 2015 Aug 1. PMID 26055793
    3. Elevated levels of plasma homocysteine, deficiencies in dietary folic acid and uracil-DNA glycosylase impair learning in a mouse model of vascular cognitive impairment. Jadavji NM, et al. Behav Brain Res, 2015 Apr 15. PMID 25655513
    4. Folate deficiency increases mtDNA and D-1 mtDNA deletion in aged brain of mice lacking uracil-DNA glycosylase. Kronenberg G, et al. Exp Neurol, 2011 Apr. PMID 21281628
    5. Folate deficiency induces genomic uracil misincorporation and hypomethylation but does not increase DNA point mutations. Linhart HG, et al. Gastroenterology, 2009 Jan. PMID 18992744, Free PMC Article

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RPA guides UNG to uracil in ssDNA to facilitate antibody class switching and repair of mutagenic uracil at the replication fork.
      Title: RPA guides UNG to uracil in ssDNA to facilitate antibody class switching and repair of mutagenic uracil at the replication fork.
    2. FAM72A antagonizes UNG2 to promote mutagenic repair during antibody maturation.
      Title: FAM72A antagonizes UNG2 to promote mutagenic repair during antibody maturation.
    3. Impact of HIV-1 Vpr manipulation of the DNA repair enzyme UNG2 on B lymphocyte class switch recombination.
      Title: Impact of HIV-1 Vpr manipulation of the DNA repair enzyme UNG2 on B lymphocyte class switch recombination.
    4. Interplay between UNG and AID governs intratumoral heterogeneity in mature B cell lymphoma.
      Title: Interplay between UNG and AID governs intratumoral heterogeneity in mature B cell lymphoma.
    5. during AID-induced class switch recombination, UNG in association with recombination factors may facilitate the stabilization of the S-S synapse to facilitate efficient recombination.
      Title: Uracil-DNA glycosylase is not implicated in the choice of the DNA repair pathway during B-cell class switch recombination.
    6. We identified a distinct UNG1 isoform variant that is targeted to the cell nucleus where it supports antibody class switching and repairs genomic uracil. We propose that the nuclear UNG1 variant, which in contrast to UNG2 lacks a PCNA-binding motif, may be specialized to act on ssDNA through its ability to bind RPA
      Title: Uracil-DNA glycosylase UNG1 isoform variant supports class switch recombination and repairs nuclear genomic uracil.
    7. 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.
    8. Pms2/Mlh1 and multiple uracil glycosylases act jointly, each one with a distinct strand bias, to enlarge the immunoglobulin gene mutation spectrum from G-C to A-T bases.
      Title: Pms2 and uracil-DNA glycosylases act jointly in the mismatch repair pathway to generate Ig gene mutations at A-T base pairs.
    9. UNG deficiency reduces B cell clonal expansion in the germinal center in mice and blocks the proliferation of tumor B cells expressing AID.
      Title: UNG protects B cells from AID-induced telomere loss.
    10. UNG might be involved in Tet-mediated DNA demethylation.
      Title: Uracil-DNA Glycosylase UNG Promotes Tet-mediated DNA Demethylation.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables damaged DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, hydrolyzing N-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ribosomal small subunit binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables uracil DNA N-glycosylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables uracil DNA N-glycosylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables uracil DNA N-glycosylase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables uracil DNA N-glycosylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables uracil DNA N-glycosylase activity TAS
    Traceable Author Statement
    more info
    		  
    enables uridine nucleosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in base-excision repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in base-excision repair, AP site formation via deaminated base removal IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in base-excision repair, AP site formation via deaminated base removal ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within isotype switching IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uracil-DNA glycosylase
    Names
    UDG
    NP_001035781.1
    NP_035807.2
    XP_006530347.1

    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_001040691.1 → NP_001035781.1  uracil-DNA glycosylase isoform a

      See identical proteins and their annotated locations for NP_001035781.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC122282, AC129080, Y08975
      Consensus CDS
      CCDS39221.1
      UniProtKB/Swiss-Prot
      P97285, P97509, P97931, Q7TPW8, Q9JIW8
      Related
      ENSMUSP00000031587.7, ENSMUST00000031587.13
      Conserved Domains (2) summary
      PHA03201
      Location:12 → 303
      PHA03201; uracil DNA glycosylase; Provisional
      TIGR00628
      Location:89 → 298
      ung; uracil-DNA glycosylase

    2. NM_011677.2 → NP_035807.2  uracil-DNA glycosylase isoform b

      See identical proteins and their annotated locations for NP_035807.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5'region, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC129080, AK168709, BB400166
      Consensus CDS
      CCDS19560.1
      UniProtKB/TrEMBL
      Q791V7
      Related
      ENSMUSP00000099644.5, ENSMUST00000102584.11
      Conserved Domains (1) summary
      TIGR00628
      Location:78 → 287
      ung; uracil-DNA glycosylase

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      114268427..114277382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530284.5 → XP_006530347.1  uracil-DNA glycosylase isoform X1

      Conserved Domains (2) summary
      TIGR00628
      Location:89 → 262
      ung; uracil-DNA glycosylase
      cd10027
      Location:145 → 149
      UDG-F1-like; motif A [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P97931.3 GenPept UniProtKB/Swiss-Prot:P97931

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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