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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
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
  • UNG and SMUG1 are the two uracil-DNA glycosylases (UDGs) most likely to combat the genomic incorporation of uracil and 5-Fluorouracil (5-FU) during replication
    • 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