| Tbio | G/T mismatch-specific thymine DNA glycosylase |
DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thymine-DNA glycosylase that mediates correction of G/T mispairs to G/C pairs: in the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. Its role in the repair of canonical base damage is however minor compared to its role in DNA demethylation. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T >> C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine.
The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]
The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| medulloblastoma, large-cell | 6241 | 5.1e-07 |
| group 3 medulloblastoma | 4104 | 3.4e-05 |
| atypical teratoid/rhabdoid tumor | 357 | 3.7e-05 |
| lung cancer | 4740 | 9.1e-05 |
| primitive neuroectodermal tumor | 3035 | 1.4e-04 |
| dermatomyositis | 966 | 1.9e-04 |
| osteosarcoma | 7950 | 1.4e-03 |
| Pick disease | 1894 | 1.9e-03 |
| glioblastoma | 5792 | 4.1e-03 |
| invasive ductal carcinoma | 2951 | 4.6e-03 |
| Waldenstrons macroglobulinemia | 765 | 1.4e-02 |
| Multiple myeloma | 1332 | 1.6e-02 |
| progressive supranuclear palsy | 676 | 3.1e-02 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid/rhabdoid tumor | 1.300 | 3.7e-05 |
| dermatomyositis | 2.200 | 1.9e-04 |
| glioblastoma | 1.300 | 4.1e-03 |
| group 3 medulloblastoma | 2.400 | 3.4e-05 |
| invasive ductal carcinoma | 1.100 | 4.6e-03 |
| lung cancer | 2.400 | 9.1e-05 |
| medulloblastoma, large-cell | 1.900 | 5.1e-07 |
| Multiple myeloma | 1.139 | 1.6e-02 |
| osteosarcoma | -1.518 | 1.4e-03 |
| Pick disease | -1.200 | 1.9e-03 |
| primitive neuroectodermal tumor | 1.400 | 1.4e-04 |
| progressive supranuclear palsy | -1.100 | 3.1e-02 |
| Waldenstrons macroglobulinemia | 1.462 | 1.4e-02 |
MEAENAGSYSLQQAQAFYTFPFQQLMAEAPNMAVVNEQQMPEEVPAPAPAQEPVQEAPKGRKRKPRTTEP 1 - 70 KQPVEPKKPVESKKSGKSAKSKEKQEKITDTFKVKRKVDRFNGVSEAELLTKTLPDILTFNLDIVIIGIN 71 - 140 PGLMAAYKGHHYPGPGNHFWKCLFMSGLSEVQLNHMDDHTLPGKYGIGFTNMVERTTPGSKDLSSKEFRE 141 - 210 GGRILVQKLQKYQPRIAVFNGKCIYEIFSKEVFGVKVKNLEFGLQPHKIPDTETLCYVMPSSSARCAQFP 211 - 280 RAQDKVHYYIKLKDLRDQLKGIERNMDVQEVQYTFDLQLAQEDAKKMAVKEEKYDPGYEAAYGGAYGENP 281 - 350 CSSEPCGFSSNGLIESVELRGESAFSGIPNGQWMTQSFTDQIPSFSNHCGTQEQEEESHA 351 - 410 //
