| Tbio | DNA ligase 3 |
Isoform 3 functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627).
This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 6.6e-18 |
| osteosarcoma | 7950 | 2.4e-09 |
| group 3 medulloblastoma | 4104 | 1.4e-06 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.0e-05 |
| medulloblastoma, large-cell | 6241 | 1.1e-05 |
| malignant mesothelioma | 3232 | 1.9e-05 |
| primitive neuroectodermal tumor | 3035 | 1.5e-03 |
| psoriasis | 6694 | 6.5e-03 |
| lung cancer | 4740 | 1.8e-02 |
| Rheumatoid arthritis | 1191 | 2.2e-02 |
| Breast cancer | 3578 | 3.4e-02 |
| subependymal giant cell astrocytoma | 2287 | 3.6e-02 |
| spina bifida | 1074 | 4.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Heart conduction disease | 83 | 0.0 | 3.0 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 1.200 | 1.0e-05 |
| Breast cancer | 2.100 | 3.4e-02 |
| group 3 medulloblastoma | 1.900 | 1.4e-06 |
| lung cancer | 1.100 | 1.8e-02 |
| malignant mesothelioma | 1.100 | 1.9e-05 |
| medulloblastoma, large-cell | 1.400 | 1.1e-05 |
| non-small cell lung cancer | 1.117 | 6.6e-18 |
| osteosarcoma | -2.970 | 2.4e-09 |
| primitive neuroectodermal tumor | 1.100 | 1.5e-03 |
| psoriasis | 1.200 | 6.5e-03 |
| Rheumatoid arthritis | -1.100 | 2.2e-02 |
| spina bifida | -1.027 | 4.5e-02 |
| subependymal giant cell astrocytoma | -1.005 | 3.6e-02 |
MSLAFKIFFPQTLRALSRKELCLFRKHHWRDVRQFSQWSETDLLHGHPLFLRRKPVLSFQGSHLRSRATY 1 - 70 LVFLPGLHVGLCSGPCEMAEQRFCVDYAKRGTAGCKKCKEKIVKGVCRIGKVVPNPFSESGGDMKEWYHI 71 - 140 KCMFEKLERARATTKKIEDLTELEGWEELEDNEKEQITQHIADLSSKAAGTPKKKAVVQAKLTTTGQVTS 141 - 210 PVKGASFVTSTNPRKFSGFSAKPNNSGEAPSSPTPKRSLSSSKCDPRHKDCLLREFRKLCAMVADNPSYN 211 - 280 TKTQIIQDFLRKGSAGDGFHGDVYLTVKLLLPGVIKTVYNLNDKQIVKLFSRIFNCNPDDMARDLEQGDV 281 - 350 SETIRVFFEQSKSFPPAAKSLLTIQEVDEFLLRLSKLTKEDEQQQALQDIASRCTANDLKCIIRLIKHDL 351 - 420 KMNSGAKHVLDALDPNAYEAFKASRNLQDVVERVLHNAQEVEKEPGQRRALSVQASLMTPVQPMLAEACK 421 - 490 SVEYAMKKCPNGMFSEIKYDGERVQVHKNGDHFSYFSRSLKPVLPHKVAHFKDYIPQAFPGGHSMILDSE 491 - 560 VLLIDNKTGKPLPFGTLGVHKKAAFQDANVCLFVFDCIYFNDVSLMDRPLCERRKFLHDNMVEIPNRIMF 561 - 630 SEMKRVTKALDLADMITRVIQEGLEGLVLKDVKGTYEPGKRHWLKVKKDYLNEGAMADTADLVVLGAFYG 631 - 700 QGSKGGMMSIFLMGCYDPGSQKWCTVTKCAGGHDDATLARLQNELDMVKISKDPSKIPSWLKVNKIYYPD 701 - 770 FIVPDPKKAAVWEITGAEFSKSEAHTADGISIRFPRCTRIRDDKDWKSATNLPQLKELYQLSKEKADFTV 771 - 840 VAGDEGSSTTGGSSEENKGPSGSAVSRKAPSKPSASTKKAEGKLSNSNSKDGNMQTAKPSAMKVGEKLAT 841 - 910 KSSPVKVGEKRKAADETLCQTKVLLDIFTGVRLYLPPSTPDFSRLRRYFVAFDGDLVQEFDMTSATHVLG 911 - 980 SRDKNPAAQQVSPEWIWACIRKRRLVAPC 981 - 1009 //
