Histone-lysine N-methyltransferase, H3 lysine-79 specific
Dot1L mediates H3K79 methylation in vivo and in vitro. It is a non-SET domain containing methyltransferase and its active site binds to S-adenosyl-L-methionine (SAM) via SAM binding pocket (PMID: 12628190). Dot1L is reported to form a fusion protein with MLL (mixed lineage leukaemia) causing upregulation of leukaemia associated genes thus promoting leukaemic transformations (PMID: 15851025). Dot1L levels are significantly reduced in patients suffering from dilated cardiomyopathy (DCM) suggesting its importance in many heart related abnormalities (PMID: 21289070)
| UniprotKB Accession | Q8TEK3 |
|---|---|
| Alternative Name(s) | DOT1-like protein, Histone H3-K79 methyltransferase (H3-K79-HMTase), Lysine N-methyltransferase 4 |
| Writer for PTM/s | H3K79me1, H3K79me2, H3K79me3 |
| EC number | 2.1.1.43 |
| No. of coding genes | Histone-lysine N-methyltransferase, H3 lysine-79 specific is coded by following 1 non-allelic gene/s |
| Gene name | DOT1-like, histone H3 methyltransferase (S. cerevisiae) |
| Gene symbol | DOT1L |
| Promoter region (-700 TSS +300) | Get sequence |
| Previous Symbol/s | |
| Aliases | KIAA1814, DOT1, KMT4 |
| GeneID | 84444 |
| Chromosomal location | 19p13.3 |
| HGNC | 24948 |
| Unigene | Hs.713641 |
| MIM | 607375 |
| RefSeq mRNA | NM_032482.2 |
| RefSeq Protein | NP_115871.1 |
| Disease associations | Cancer: Leukemia; PMID: 15851025 Cardiac disorders: Dilated cardiomyopathy (DCM); PMID: 21289070 |
Lysine methyltransferases Histone-lysine N-methyltransferase EZH1, Histone-lysine N-methyltransferase EZH2, Histone-lysine N-methyltransferase MLL, Histone-lysine N-methyltransferase MLL2, Histone-lysine N-methyltransferase MLL3, Histone-lysine N-methyltransferase MLL4, Histone-lysine N-methyltransferase MLL5, Histone-lysine N-methyltransferase NSD3, Histone-lysine N-methyltransferase PRDM9, Histone-lysine N-methyltransferase SETD1A, Histone-lysine N-methyltransferase SETD1B, Histone-lysine N-methyltransferase SETD2, Histone-lysine N-methyltransferase SETD7, Histone-lysine N-methyltransferase SETD8, Histone-lysine N-methyltransferase SETDB1, Histone-lysine N-methyltransferase SETDB2, Histone-lysine N-methyltransferase SETMAR, Histone-lysine N-methyltransferase SUV39H1, Histone-lysine N-methyltransferase SUV39H2, Histone-lysine N-methyltransferase SUV420H1, Histone-lysine N-methyltransferase SUV420H2, Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific, Histone-lysine N-methyltransferase, H3 lysine-79 specific, Histone-lysine N-methyltransferase, H3 lysine-9 specific 3, Histone-lysine N-methyltransferase, H3 lysine-9 specific 5, N-lysine methyltransferase SMYD2, PR domain zinc finger protein 2, Probable histone-lysine N-methyltransferase ASH1L, Probable histone-lysine N-methyltransferase NSD2, SET and MYND domain-containing protein 3