DISEASES

Disease-gene associations mined from literature

Literature on SETMAR

SETMAR [ENSP00000373354]

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 . Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A . ECO:0000269|PubMed:17403897, ECO:0000269|PubMed:17877369, ECO:0000269|PubMed:18790802, ECO:0000269|PubMed:20457750, ECO:0000269|PubMed:20521842, ECO:0000269|PubMed:21187428, ECO:0000269|PubMed:22231448, ECO:0000269|PubMed:24573677,; In the N-terminal section; belongs to the class V-like SAM- binding methyltransferase superfamily.

Synonyms:  SETMAR,  B9ZVV8,  F8WB33,  F8WEU1,  Q53H47 ...

Linkouts:  STRING  Pharos  UniProt  OMIM