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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

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