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

Summary

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, Nov 2024]
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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
FAM72A antagonizes UNG2 to promote mutagenic repair during antibody maturation.
Title: FAM72A antagonizes UNG2 to promote mutagenic repair during antibody maturation.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235272

Y08975 (e-PCR)
- UniSTS:159425

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables ribosomal small subunit binding	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

Process	Evidence Code	Pubs
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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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 more info	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

EC 3.2.2.27

NP_035807.2

EC 3.2.2.27

XP_006530347.1

EC 3.2.2.27

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)

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
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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

114268427..114277382

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]