Histone-lysine N-methyltransferase MLL
MLL1 is found at most transcription start sites and mediates H3K4 trimethylation. MLL1 is known to associate with actively transcribed region of HoxA cluster and is supposed to be involved in the maintenance of active transcription domains. MLL1 performs this marking of active region in close coordination with MOF acetyltransferase that mediates H4K16 acetylation (PMID: 15941828, PMID: 15960975).Activation of HoxA9 genes by interplay of MLL1 and MLL1 fusion protein is related to the aggressive development of leukaemia (PMID: 20541448). MLL1 phosphorylation by ATR is shown to be important for the S phase checkpoint activation. Deregulation of this checkpoint in MLL mutated cells is linked to leukaemia (PMID: 20818375). MLL1 forms a complex with CLOCK-BMAL1 and is rhythmically recruited to circadian promoters in order to activate transcription at these sites. Hence playing an important role in circadian gene regulation (PMID: 21113167).
| UniprotKB Accession | Q03164 |
|---|---|
| Alternative Name(s) | ALL-1, CXXC-type zinc finger protein 7, Lysine N-methyltransferase 2A (KMT2A), Trithorax-like protein, Zinc finger protein HRX |
| Writer for PTM/s | H3K4me3 |
| EC number | 2.1.1.43 |
| No. of coding genes | Histone-lysine N-methyltransferase MLL is coded by following 1 non-allelic gene/s |
| Gene name | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) |
| Gene symbol | MLL |
| Promoter region (-700 TSS +300) | Get sequence |
| Previous Symbol/s | |
| Aliases | TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A, KMT2A |
| GeneID | 4297 |
| Chromosomal location | 11q23 |
| HGNC | 7132 |
| Unigene | Hs.258855 |
| MIM | 159555 |
| RefSeq mRNA | NM_005933.3 |
| RefSeq Protein | NP_005924.2 |
| Disease associations | Cancer: Leukemia; PMID: 21896721 |
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