ID:MLL4_HUMAN DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase MLL4; EC=2.1.1.43; AltName: Full=Lysine N-methyltransferase 2B; Short=KMT2B; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 4; AltName: Full=Trithorax homolog 2; AltName: Full=WW domain-binding protein 7; Short=WBP-7; 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. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. SUBUNIT: Component of the menin-associated histone methyltransferase complex, at least composed of MLL4/WBP7, ASH2L, RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1. Interacts with NFE2. Interacts with KDM6B. INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-765774, EBI-389883; SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Widely expressed. Highest levels in testis. Also found in brain, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). SIMILARITY: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. SIMILARITY: Contains 3 A.T hook DNA-binding domains. SIMILARITY: Contains 1 CXXC-type zinc finger. SIMILARITY: Contains 1 FYR C-terminal domain. SIMILARITY: Contains 1 FYR N-terminal domain. SIMILARITY: Contains 3 PHD-type zinc fingers. SIMILARITY: Contains 1 post-SET domain. SIMILARITY: Contains 1 SET domain. CAUTION: This protein was first named MLL2 by PubMed:10637508 and PubMed:10409430. MLL2 corresponds to another protein located on chromosome 12 (see AC O14686). Thus, MLL4 is often referred to as MLL2 and vice versa in the literature.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UMN6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
