| The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010],catalytic activity:S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.,domain:LXXLL motifs 5 and 5 are essential for the association with ESR1 nuclear receptor.,function:Histone methyltransferase. Methylates Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.,miscellaneous:This gene mapped to a chromosomal region involved in duplications and translocations associated with cancer.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily.,similarity:Contains 1 post-SET domain.,similarity:Contains 1 RING-type zinc finger.,similarity:Contains 1 SET domain.,similarity:Contains 5 PHD-type zinc fingers.,subunit:Component of the MLL2/MLL3 complex (also named ASCOM complex), at least composed of MLL2, MLL3, ASH2L, RBBP5, DPY30, NCOA6, WDR5, MEN1, KDM6A and PAXIP1/PTIP. Interacts with NFE2. Interacts with ESR1, interaction is direct.,tissue specificity:Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver., |
