MLL Histone methyltransferase that plays an essential role in early development and hematopoiesis. 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, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis. Chromosomal aberrations involving MLL are a cause of acute leukemias. Translocation t(1;11)(q21;q23) with MLLT11/AF1Q; translocation t(3;11)(p21;q23) with NCKIPSD/AF3p21; translocation t(3,11)(q25,q23) with GMPS; translocation t(4;11)(q21;q23) with AFF1/MLLT2/AF4; insertion ins(5;11)(q31;q13q23) with AFF4/AF5Q31; translocation t(5;11)(q12;q23) with AF5-alpha/CENPK; translocation t(6;11)(q27;q23) with MLLT4/AF6; translocation t(9;11)(p22;q23) with MLLT3/AF9; translocation t(10;11)(p11.2;q23) with ABI1; translocation t(10;11)(p12;q23) with MLLT10/AF10; t(11;15)(q23;q14) with CASC5 and ZFYVE19; translocation t(11;17)(q23;q21) with MLLT6/AF17; translocation t(11;19)(q23;p13.3) with ELL; translocation t(11;19)(q23;p13.3) with MLLT1/ENL; translocation t(11;19)(q23;p23) with GAS7; translocation t(X;11)(q13;q23) with FOXO4/AFX1. Translocation t(3;11)(q28;q23) with LPP. Translocation t(10;11)(q22;q23) with TET1. Translocation t(9;11)(q34;q23) with DAB2IP. Translocation t(4;11)(p12;q23) with FRYL. Fusion proteins MLL-MLLT1, MLL-MLLT3 and MLL-ELL interact with PPP1R15A and, on the contrary to unfused MLL, inhibit PPP1R15A-induced apoptosis. A chromosomal aberration involving MLL may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with SEPT11. Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Oncoprotein; Transcription factor
Chromosomal Location of Human Ortholog: 9 A5.2|9 24.84 cM
Cellular Component:  cytosol; histone methyltransferase complex; MLL1 complex; nucleoplasm; nucleus
Molecular Function:  chromatin binding; DNA binding; histone methyltransferase activity (H3-K4 specific); histone-lysine N-methyltransferase activity; identical protein binding; lysine-acetylated histone binding; metal ion binding; methyltransferase activity; protein binding; protein homodimerization activity; RNA polymerase II distal enhancer sequence-specific DNA binding; transcription regulatory region DNA binding; transferase activity; unmethylated CpG binding; zinc ion binding
Biological Process:  anterior/posterior pattern specification; chromatin organization; circadian regulation of gene expression; cognition; definitive hemopoiesis; DNA methylation; embryonic hemopoiesis; exploration behavior; histone H3-K4 dimethylation; histone H3-K4 methylation; histone H3-K4 trimethylation; histone H4-K16 acetylation; homeostasis of number of cells within a tissue; methylation; negative regulation of cell proliferation; negative regulation of DNA methylation; peptidyl-lysine monomethylation; positive regulation of cellular response to drug; positive regulation of histone H3-K4 methylation; positive regulation of transcription by RNA polymerase II; positive regulation of transcription, DNA-templated; positive regulation of transporter activity; post-embryonic development; protein-containing complex assembly; regulation of gene expression; regulation of histone H3-K14 acetylation; regulation of histone H3-K27 acetylation; regulation of histone H3-K4 methylation; regulation of histone H3-K9 acetylation; regulation of short-term neuronal synaptic plasticity; regulation of transcription, DNA-templated; response to light stimulus; rhythmic process; spleen development; visual learning
Reference #:  P55200 (UniProtKB)
Alt. Names/Synonyms: 6430520K01; ALL-1; All1; C-terminal cleavage product of 180 kDa; Cxxc7; Histone-lysine N-methyltransferase 2A; Histone-lysine N-methyltransferase MLL; Hrx; HTRX1; KIAA4050; KMT2A; mKIAA4050; Mll; MLL cleavage product C180; MLL cleavage product N320; Mll1; myeloid/lymphoid or mixed-lineage leukemia 1; N-terminal cleavage product of 320 kDa; p180; p320; trithorax Drosophila; Zinc finger protein HRX
Gene Symbols: Kmt2a
Molecular weight: 429,649 Da
Basal Isoelectric point: 9.29  Predict pI for various phosphorylation states
CST Pathways:  Histone Methylation
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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MLL

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene