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: CDT1; DNA replication factor Cdt1; Double parked homolog; Double parked, Drosophila, homolog of; DUP
Gene Aliases: CDT1; DUP; RIS2
UniProt ID: (Human) Q9H211
Entrez Gene ID: (Human) 81620