Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol UNG contributors: mct - updated : 22-05-2013
HGNC name uracil-DNA glycosylase
HGNC id 12572
Corresponding disease
HIGM4 immunodeficiency with hyper IgM
Location 12q24.11      Physical location : 109.535.414 - 109.548.798
Synonym name uracil-DNA glycosylase 2
Synonym symbol(s) DGU, HIGM4, UDG, UNG1, UNG15, UNG2, DKFZp781L1143
EC.number 3.2.2.27
DNA
TYPE functioning gene
STRUCTURE 13.40 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
text structure promoter is GC rich and lacks a TATA box
MAPPING cloned Y linked N status confirmed
Physical map
BTBD11 12q24.11 BTB (POZ) domain containing 11 PWP1 12q24.11 nuclear phosphoprotein similar to S. cerevisiae PWP1 PRDM4 12q23-q24.1 PR domain containing 4 ASCL4 12q24.11 class II bHLH protein ASCL4 LOC390358 12 similar to RET finger protein-like 3 LOC390359 12 similar to programmed cell death 2 isoform 2; zinc finger protein Rp-8; programmed cell death 2/Rp8 homolog KIAA0789 12q24.11 similar to programmed cell death 2 isoform 2; zinc finger protein Rp-8; programmed cell death 2/Rp8 homolog LOC196469 12q24.11 similar to apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G; phorbolin-like protein MDS019 CMKLR1 12q24.1 chemokine-like receptor 1 HYPE 12q24.1 chemokine-like receptor 1 SART3 12q24.1 squamous cell carcinoma antigen recognised by T cells 3 NIFU 12-q24.1 squamous cell carcinoma antigen recognised by T cells 3 LOC338773 12q24.12 hypothetical protein LOC338773 SELPLG 12q24 selectin P ligand CORO1C 12q24.1 coronin, actin binding protein, 1C SSH1 12q24.12 slingshot 1 DAO 12q24.12 D-amino-acid oxidase DKFZp761H039 12q24.12 hypothetical protein DKFZp761H039 USP30 12q23.3 ubiquitin specific protease 30 LOC121642 12q24.12 similar to hypothetical protein 9530023G02 UNG 12q23-q24.1 uracil-DNA glycosylase LOC387883 12 LOC387883 ACACB 12q24.1 acetyl-Coenzyme A carboxylase beta FOXN4 12q24.12 forkhead box N4 LOC387884 12 LOC387884 FLJ37587 12q24.12 hypothetical protein FLJ37587 KCTD10 12q24.12 potassium channel tetramerisation domain containing 10 UBE3B 12q24.12 potassium channel tetramerisation domain containing 10 MMAB MVK 12q24 mevalonate kinase (mevalonic aciduria) MGC14436 12q24.12 hypothetical protein MGC14436 FLJ14721 12q24.12 hypothetical protein FLJ14721 TRPV4 12q24.1 transient receptor potential cation channel, subfamily V, member 4 GLTP 12q24.12 glycolipid transfer protein MGC10854 12q24.12 hypothetical protein MGC10854 GIT2 12q24.1 G protein-coupled receptor kinase-interactor 2 ANKRD13 12q24.12 ankyrin repeat domain 13 LOC144705 12q24.12 hypothetical gene supported by AF086409 CDV-1 12q24.13 carnitine deficiency-associated gene expressed in ventricle 1 ATP2A2 12q24.1 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 HMGA1L3 12q24.13 high mobility group AT-hook 1-like 3 ARPC3 12q24 actin related protein 2/3 complex, subunit 3, 21kDa MGC14560 12q24.13 protein x 0004 HSU79274 12q24.13 protein predicted by clone 23733 VPS29 12q24 vacuolar protein sorting 29 (yeast) RAD9B 12q24.13 RAD9 homolog B (S. cerevisiae) TA-PP2C 12q24.13 T-cell activation protein phosphatase 2C
RNA
TRANSCRIPTS type messenger
text two isoforms UNG1, UNG2 generated by alternative splicing and transcription from different positions (Nilsen)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 splicing initiation site 2166 - 304 testis, heart, muscle Nilsen
  • UNG1, mitochondrial
  • containing a strong mitochondrial localization signal
  • 7 - 2070 34.6 313 testis, placenta, colon, small intestine, thymus Nilsen, Parker (2007)
  • nuclear, UNG2
  • containing a nuclear localization signal (NLS)
  • stimulated by physiologic concentrations of Mg(2+), and Mg(2+) increased the preference of UNG2 toward uracil nearly 40-fold
  • major enzyme for removal of deaminated cytosine outside of replication foci, with SMUG1 acting as a broad specificity backup
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain contains binding motifs for both proliferating cell nuclear antigen (PCNA) and replication protein A (RPA1) , and N-terminus interacts with the active site of the enzyme and with chromatin
  • UNG1 containing a nuclear localization signal (NLS)
  • UNG2 containing a strong mitochondrial localization signal
  • conjugated PhosphoP
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine Ung
    Homologene
    FAMILY
  • uracil-DNA glycosylase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,nucleus
    basic FUNCTION
  • having uracil-DNA glycosylase activity
  • playing a critical role in antibody gene diversification
  • is likely to represent a new host defense factor specifically counteracted by HIV-1 Vpr
  • in cell nuclei, is the major uracil-DNA glycosylase initiating DNA base excision repair of uracil
  • does not appear to process U:G base pairs at all in Ig genes outside G1 phase
  • CELLULAR PROCESS nucleotide, repair, base excision repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly interacts with the nuclear localization signal-region (NLS) of XRCC1
  • RPA1 recruits UNG to sites of deamination and keeps DNA in a single stranded conformation, thus avoiding error-free base excision repair of the deaminated cytosine
  • disruption of the PCNA-binding motif impaired recruitment of UNG to S-phase replication foci, demonstrating that PCNA is a major factor for recruitment of UNG to unperturbed replication forks
  • cell & other
    REGULATION
    Other regulated by cell cycle-specific phosphorylations (protein turnover, activity and association with RPA)
    ASSOCIATED DISORDERS
    corresponding disease(s) HIGM4
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    blocks CENPA assembly, and results in reduced cell proliferation, associated with increased frequencies of mitotic abnormalities and rapid cell death
    constitutional     --over  
    inhibits HIV-1 replication
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS