| Tbio | Histone-lysine N-methyltransferase SETMAR |
Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates 'Lys-4' and 'Lys-36' of histone H3. Specifically mediates dimethylation of H3 'Lys-36' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).
This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 1.1e-09 |
| osteosarcoma | 7950 | 1.2e-06 |
| malignant mesothelioma | 3232 | 3.1e-06 |
| medulloblastoma, large-cell | 6241 | 6.0e-06 |
| inflammatory breast cancer | 286 | 1.2e-05 |
| posterior fossa group B ependymoma | 416 | 1.5e-05 |
| atypical teratoid / rhabdoid tumor | 5112 | 5.5e-04 |
| group 3 medulloblastoma | 4104 | 6.9e-04 |
| psoriasis | 6694 | 1.1e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.8e-03 |
| adult high grade glioma | 3801 | 2.2e-03 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | 1.200 | 2.2e-03 |
| atypical teratoid / rhabdoid tumor | 1.100 | 5.5e-04 |
| group 3 medulloblastoma | 1.200 | 6.9e-04 |
| inflammatory breast cancer | -1.100 | 1.2e-05 |
| intraductal papillary-mucinous neoplasm ... | -1.300 | 1.8e-03 |
| malignant mesothelioma | 1.300 | 3.1e-06 |
| medulloblastoma, large-cell | 1.600 | 6.0e-06 |
| osteosarcoma | 2.019 | 1.2e-06 |
| ovarian cancer | 1.400 | 1.1e-09 |
| posterior fossa group B ependymoma | 1.200 | 1.5e-05 |
| psoriasis | -1.100 | 1.1e-03 |
MFAEAAKTTRPCGMAEFKEKPEAPTEQLDVACGQENLPVGAWPPGAAPAPFQYTPDHVVGPGADIDPTQI 1 - 70 TFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFH 71 - 140 FQVFKTHKKGWGLRTLEFIPKGRFVCEYAGEVLGFSEVQRRIHLQTKSDSNYIIAIREHVYNGQVMETFV 141 - 210 DPTYIGNIGRFLNHSCEPNLLMIPVRIDSMVPKLALFAAKDIVPEEELSYDYSGRYLNLTVSEDKERLDH 211 - 280 GKLRKPCYCGAKSCTAFLPFDSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCKRLTLETMKMMLDKKQ 281 - 350 IRAIFLFEFKMGRKAAETTRNINNAFGPGTANERTVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAI 351 - 420 IEADPLTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFEVSSSLILRNHNEPFLD 421 - 490 RIVTCDEKWILYDNRRRSAQWLDQEEAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYA 491 - 560 QEIDEMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNELGYEVLPHPPYSPDLLPTNYHVFKHL 561 - 630 NNFLQGKRFHNQQDAENAFQEFVESQSTDFYATGINQLISRWQKCVDCNGSYFD 631 - 684 //
