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'. Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Heart, lung, brain and T- and B-lymphocytes. 3 alternatively spliced human isoforms have been reported. 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: 11q23.3
Cellular Component:  cytosol; histone methyltransferase complex; MLL1 complex; nucleoplasm; nucleus
Molecular Function:  AT DNA binding; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; histone methyltransferase activity (H3-K4 specific); identical protein binding; lysine-acetylated histone binding; protein binding; protein homodimerization activity; RNA polymerase II distal enhancer sequence-specific DNA binding; transcription regulatory region DNA binding; unmethylated CpG binding; zinc ion binding
Biological Process:  apoptotic process; circadian regulation of gene expression; embryonic hemopoiesis; histone H3-K4 methylation; histone H3-K4 trimethylation; histone H4-K16 acetylation; negative regulation of DNA methylation; 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; protein-containing complex assembly; regulation of hematopoietic stem cell differentiation; regulation of histone H3-K14 acetylation; regulation of histone H3-K9 acetylation; regulation of megakaryocyte differentiation; transcription by RNA polymerase II
Disease: Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
Reference #:  Q03164 (UniProtKB)
Alt. Names/Synonyms: ALL-1; ALL1; C-terminal cleavage product of 180 kDa; CDK6/MLL fusion protein; CXXC-type zinc finger protein 7; CXXC7; FLJ11783; Histone-lysine N-methyltransferase 2A; Histone-lysine N-methyltransferase MLL; HRX; HTRX; HTRX1; KMT2A; lysine (K)-specific methyltransferase 2A; lysine methyltransferase 2A; Lysine N-methyltransferase 2A; mixed lineage leukemia 1; MLL; MLL cleavage product C180; MLL cleavage product N320; MLL-AF4 der(11) fusion partner; MLL/GAS7; MLL/GAS7 fusion partner; MLL/GMPS fusion partner; MLL1; MLL1A; Myeloid/lymphoid or mixed-lineage leukemia; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); Myeloid/lymphoid or mixed-lineage leukemia protein 1; N-terminal cleavage product of 320 kDa; p180; p320; TET1-MLL; Trithorax-like protein; TRX1; WDSTS; Zinc finger protein HRX
Gene Symbols: KMT2A
Molecular weight: 431,764 Da
Basal Isoelectric point: 9.22  Predict pI for various phosphorylation states
CST Pathways:  Histone Methylation
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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MLL

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  CCLE  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein