KMT2A is a histone methyltransferase that plays an essential role in early development and hematopoiesis. It is a catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, KMT2A specifically mediates H3K4me, a tag for epigenetic transcriptional activation. KMT2A has weak methyltransferase activity by itself, and requires other components of the MLL1/MLL complex to obtain full methyltransferase activity. It has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', and has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9 and promotes PPP1R15A-induced apoptosis.
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Protein Aliases: ALL-1; C-terminal cleavage product of 180 kDa; CDK6/MLL fusion protein; CXXC-type zinc finger protein 7; Histone-lysine N-methyltransferase 2A; histone-lysine N-methyltransferase MLL; lysine (K)-specific methyltransferase 2A; Lysine N-methyltransferase 2A; mixed lineage leukemia 1; MLL cleavage product C180; MLL cleavage product N320; MLL-AF4 der(11) fusion protein; MLL/ENL fusion protein; MLL/GAS7 fusion protein; MLL/GMPS fusion protein; MLL/hCDCrel fusion protein; Myeloid/lymphoid or mixed-lineage leukemia; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia 1; Myeloid/lymphoid or mixed-lineage leukemia protein 1; N-terminal cleavage product of 320 kDa; p180; p320; rearranged MLL protein; trithorax Drosophila; Trithorax-like protein; Zinc finger protein HRX
Gene Aliases: 6430520K01; ALL-1; ALL1; CXXC7; HRX; HTRX; HTRX1; KMT2A; mKIAA4050; MLL; MLL-AF9; MLL/GAS7; MLL1; MLL1A; TET1-MLL; TRX1; WDSTS