Homo sapiens L. (human) [HSA]

FULL NAME: Uracil-DNA glycosylase (UDG)


DESCRIPTION:
Uracil-DNA glycosylase, also known as UNG or UDG, is a product of human gene UNG though orthologs exist ubiquitously among prokaryotes and eukaryotes and even in some DNA viruses. UNG glycosylase recognizes and removes uracil (U) residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine. 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 first uracil DNA-glycosylase was isolated from Escherichia coli. Uracil-DNA Glycosylase (UDG, UNG) catalyzes the hydrolysis of the N-glycosylic bond between uracil and sugar, leaving an apyrimidinic site in uracil-containing single or double-stranded DNA. Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]. Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations. HIGM5 is associated with profound impairment in immunoglobulin (Ig) class-switch recombination (CSR) at a DNA precleavage step.

STRUCTURE SIMILARITY:
Belongs to the uracil-DNA glycosylase family.


SUBUNIT STRUCTURE:
Monomer. Interacts with HIV-1 Vpr.


CATALYTIC ACTIVITY:
Hydrolyzes single-stranded DNA or mismatched double-stranded DNA and polynucleotides, releasing free uracil.


POST-TRANSLATIONAL MODIFICATION:
Isoform 1 is processed by cleavage of a transit peptide.


PROTEIN TYPE(S):
DNA N-glycosylase


RELATED PATHWAY(S):
base excision repair (BER)


RELATED DISEASE(S):
immunodeficiency with hyper-IgM, TYPE 5 (HIGM5)


RELATED DAMAGE:
dU in ssDNA
dU from U:A
dU from U:G
5-fluoro-dU


Amino acids sequence

        10         20         30         40         50         60
MGVFCLGPWG LGRKLRTPGK GPLQLLSRLC GDHLQAIPAK KAPAGQEEPG TPPSSPLSAE
        70         80         90        100        110        120
QLDRIQRNKA AALLRLAARN VPVGFGESWK KHLSGEFGKP YFIKLMGFVA EERKHYTVYP
       130        140        150        160        170        180
PPHQVFTWTQ MCDIKDVKVV ILGQDPYHGP NQAHGLCFSV QRPVPPPPSL ENIYKELSTD
       190        200        210        220        230        240
IEDFVHPGHG DLSGWAKQGV LLLNAVLTVR AHQANSHKER GWEQFTDAVV SWLNQNSNGL
       250        260        270        280        290        300
VFLLWGSYAQ KKGSAIDRKR HHVLQTAHPS PLSVYRGFFG CRHFSKTNEL LQKSGKKPID

WKEL     

Encoded by UNG gene

FULL NAME: uracil-DNA glycosylase


OTHER NAME(S):
DGU
DKFZp781L1143
HIGM4
UDG
UNG1
UNG15
UNG2


DESCRIPTION:
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]


Nucleic acid sequence

        10         20         30         40         50         60
atgggcgtct tctgccttgg gccgtggggg ttgggccgga agctgcggac gcctgggaag
        70         80         90        100        110        120
gggccgctgc agctcttgag ccgcctctgc ggggaccact tgcaggccat cccagccaag
       130        140        150        160        170        180
aaggccccgg ctgggcagga ggagcctggg acgccgccct cctcgccgct gagtgccgag
       190        200        210        220        230        240
cagttggacc ggatccagag gaacaaggcc gcggccctgc tcagactcgc ggcccgcaac
       250        260        270        280        290        300
gtgcccgtgg gctttggaga gagctggaag aagcacctca gcggggagtt cgggaaaccg
       310        320        330        340        350        360
tattttatca agctaatggg atttgttgca gaagaaagaa agcattacac tgtttatcca
       370        380        390        400        410        420
cccccacacc aagtcttcac ctggacccag atgtgtgaca taaaagatgt gaaggttgtc
       430        440        450        460        470        480
atcctgggac aggatccata tcatggacct aatcaagctc acgggctctg ctttagtgtt
       490        500        510        520        530        540
caaaggcctg ttccgcctcc gcccagtttg gagaacattt ataaagagtt gtctacagac
       550        560        570        580        590        600
atagaggatt ttgttcatcc tggccatgga gatttatctg ggtgggccaa gcaaggtgtt
       610        620        630        640        650        660
ctccttctca acgctgtcct cacggttcgt gcccatcaag ccaactctca taaggagcga
       670        680        690        700        710        720
ggctgggagc agttcactga tgcagttgtg tcctggctaa atcagaactc gaatggcctt
       730        740        750        760        770        780
gttttcttgc tctggggctc ttatgctcag aagaagggca gtgccattga taggaagcgg
       790        800        810        820        830        840
caccatgtac tacagacggc tcatccctcc cctttgtcag tgtatagagg gttctttgga
       850        860        870        880        890        900
tgtagacact tttcaaagac caatgagctg ctgcagaagt ctggcaagaa gcccattgac
       910
tggaaggagc tgtga    

Last modification date: July 29, 2012