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    UNG uracil DNA glycosylase [ Homo sapiens (human) ]

    Gene ID: 7374, updated on 27-Nov-2024

    Summary

    Official Symbol
    UNGprovided by HGNC
    Official Full Name
    uracil DNA glycosylaseprovided by HGNC
    Primary source
    HGNC:HGNC:12572
    See related
    Ensembl:ENSG00000076248 MIM:191525; AllianceGenome:HGNC:12572
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DGU; UDG; UNG1; UNG2; HIGM4; HIGM5; UNG15
    Summary
    This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
    Annotation information
    Note: Due to a common symbol (UNG2) for the specific nuclear isoform of the UNG gene (GeneID 7374) and as a previous symbol for the CCNO gene (GeneID 10309), incorrect attributions of uracil DNA glycosylase activity have been made for CCNO in the scientific literature and some databases. CCNO was correctly identified as a cyclin protein family member in PubMed ID: 8419333. [13 Feb 2013]
    Expression
    Ubiquitous expression in adrenal (RPKM 23.4), testis (RPKM 16.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UNG in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109097597..109110992)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109072409..109086041)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109535402..109548797)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 30 Neighboring gene RNA, 5S ribosomal pseudogene 372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109548634-109549184 Neighboring gene alkB homolog 2, alpha-ketoglutarate dependent dioxygenase Neighboring gene uncharacterized LOC105369974 Neighboring gene acetyl-CoA carboxylase beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109677215-109677716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109677717-109678216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6984 Neighboring gene Sharpr-MPRA regulatory region 176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109722785-109723628 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:109725470-109725629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109725794-109726403 Neighboring gene MPRA-validated peak1938 silencer Neighboring gene Sharpr-MPRA regulatory region 9197 Neighboring gene forkhead box N4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 replication is enhanced by UNG2 in monocyte derived macrophages PubMed
    HIV-1 replication is enhanced by UNG2 in PBMCs by influencing the efficiency of reverse transcription PubMed
    HIV-1 replication is enhanced by UNG2 (HeLa-CD4 cells and Jurkat T cells) as shown by shRNA mediated knockdown of UNG2 PubMed
    Depletion of UNG2 by shRNA in HIV-1-producing 293T cells inhibits viral infectivity and replication PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The antiviral activity of UNG2 requires the integrity of its catalytic domain (residues 153 and 154). Depletion of endogenous UMG2 promotes Tat-mediated LTR transcription PubMed
    Vpr vpr HIV-1 Vpr inhibits UNG (UNG2) activity when complexed with DDB1-DCAF1 by interfering with substrate (DNA) binding PubMed
    vpr HIV-1 Vpr mimics DNA binding to UNG; UNG bind site for Vpr is identical to UNG-DNA; UNG uses Leu272 to insert into DNA minor groove whilst in the DDB1-DCAF1-Vpr-UNG complex , Leu272 inserts into Vpr cleft and Vpr insert loop mimics DNA phosphate backbone. PubMed
    vpr HIV-1 Vpr depletes UNG (UNG2) in HIV-1 infected cells PubMed
    vpr HIV-1 and SIVcpz Vpr targets UNG (UNG2) PubMed
    vpr HIV-1 Vpr binds UNG2 and forms a trimolecular complex containing Vpr, UNG2 and RPA2 PubMed
    vpr HIV-1 Vpr downregulates the gene expression of UNG2 and amino-acid residues A30/V31 are critical for the Vpr-mediated downregulation of UNG2 PubMed
    vpr HIV-1 Vpr-induced reduction in uracil DNA glycosylase (UNG) is mediated through proteasomal degradation PubMed
    vpr HIV-1 Vpr complexes with DCAF1, DDB1, CUL4A, CUL4B, and UNG2 proteins in the cullin4 (CUL4)-containing ubiquitin ligase complex in HEK293T cells PubMed
    vpr Ubiquitination levels of UNG2 is upregulated in the presence of HIV-1 Vpr in the proviral backbone compared to the levels for control PubMed
    vpr The coexpression of UNG2 with a dominant negative CUL4 molecule prevents UNG2 degradation from the presence of HIV-1 Vpr PubMed
    vpr HIV-1 Vpr-mediated UNG2 degradation and constitutive UNG2 turnover are dependent on DCAF1 or DDB1 but not on CUL4a or CUL4B in the cullin4 (CUL4)-containing ubiquitin ligase complex in HEK293T cells PubMed
    vpr HIV-1 Vpr-mediated degradation of UNG2 is dependent on CUL4A neddylation PubMed
    vpr HIV-1 Vpr binding to UNG2 results in a rapid reduced level of UNG2 protein and a significant loss of uracil-DNA glycosylate activity PubMed
    vpr Downregulation of UNG2 by Vpr is related to a transcriptional regulation and is independent of Vpr binding, Vpr-induced G2 arrest, and the proteasome degradation PubMed
    vpr HIV-1 Vpr induces the ubiquitination of UNG and forms a complex with UNG PubMed
    vpr Expression of exogenous HIV-1 Vpr inhibits class switch recombination (CSR) by competing with some endogenous factors for the WXXF site (residues 222-225) of uracil-DNA glycosylase PubMed
    vpr High levels of HIV-1 Vpr expression leads to the accumulation of phosphorylated UNG2 and the redistribution of UNG2 into the cell nucleus PubMed
    vpr HIV-1-Vpr induced upregulation of NKG2D ligands in HIV-infected T cells by activating UNG2-dependent repair of uridine-containing DNA PubMed
    vpr W54R/S79A Vpr mutant impairs interaction with UNG2, but is still able to recruit DCAF1 PubMed
    vpr In a yeast two-hybrid assay, tryptophan in position 54 of HIV-1 Vpr is critical for maintaining the interaction of Vpr with UNG2, and the WXXF motif (residues 231-234) of UNG2 is involved in this binding to Vpr PubMed
    vpr The interaction of HIV-1 Vpr with UNG2 leads to virion incorporation of catalytically active UNG2, which is directly involved with Vpr in modulating the HIV-1 mutation rate PubMed
    vpr DCAF1 interacts with DDB1 as well as the Vpr-UNG2 complex, which leads to polyubiquitination of UNG2 via Vpr PubMed
    vpr One report indicates incorporation of uracil DNA glycosylase (UNG) into HIV-1 virions is mediated by binding of HIV-1 Vpr to UNG, however another indicates virion incorporation of UNG is independent of Vpr and is mediated by the HIV-1 Integrase protein PubMed
    vpr HIV-1 Vpr (amino acids 15-77) binds to the uracil DNA glycosylase DNA repair enzyme (amino acids 222-225) and thereby modulates the HIV-1 mutation rate PubMed
    integrase gag-pol HIV-1 L172A/K173A mutant virus is deficient for Uracil DNA Glycosylase (UNG2) incorporation into virions and is defective for replication due to a blockage at the stage of proviral DNA integration PubMed
    gag-pol Uracil DNA Glycosylase (UNG2; amino acids 1-51) binds to HIV-1 integrase (amino acids 170-180) and is incorporated into HIV-1 particles by binding to the integrase domain of the HIV-1 Gag-Pol polyprotein PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781L1143

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosomal small subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables uracil DNA N-glycosylase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    uracil-DNA glycosylase
    Names
    uracil-DNA glycosylase 1, uracil-DNA glycosylase 2
    NP_003353.1
    NP_550433.1

    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.

    Genomic

    1. NG_007284.1 RefSeqGene

      Range
      4985..18384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_124

    mRNA and Protein(s)

    1. NM_003362.4NP_003353.1  uracil-DNA glycosylase isoform UNG1 precursor

      See identical proteins and their annotated locations for NP_003353.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses the downstream promoter and a full-length exon 1B. It encodes the UNG1 isoform, which includes a mitochondrial targeting sequence.
      Source sequence(s)
      AC007637, BM928006, BU622689, DB045515
      Consensus CDS
      CCDS9125.1
      UniProtKB/TrEMBL
      A0A8V8TQ66, E5KTA6
      Related
      ENSP00000337398.2, ENST00000336865.6
      Conserved Domains (1) summary
      TIGR00628
      Location:87296
      ung; uracil-DNA glycosylase
    2. NM_080911.3NP_550433.1  uracil-DNA glycosylase isoform UNG2

      See identical proteins and their annotated locations for NP_550433.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an upstream promoter and an alternate splice site for exon 1B when compared to variant 1. It encodes the nuclear UNG2 isoform, which has a different N-terminal sequence than the UNG1 isoform.
      Source sequence(s)
      BQ950839, BU622689, Y09008
      Consensus CDS
      CCDS9124.1
      UniProtKB/Swiss-Prot
      A8K5M6, B2R8Y1, O00637, O00719, P13051, Q93028
      UniProtKB/TrEMBL
      A0A8V8TQ66, E5KTA5, Q6FHS8
      Related
      ENSP00000242576.3, ENST00000242576.7
      Conserved Domains (1) summary
      TIGR00628
      Location:96305
      ung; uracil-DNA glycosylase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      109097597..109110992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      109072409..109086041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)