| 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: chromatin binding; histone H3K4 methyltransferase activity; histone H3K4 monomethyltransferase activity; histone H3K4 trimethyltransferase activity; identical protein binding; lysine-acetylated histone binding; minor groove of adenine-thymine-rich DNA binding; protein binding; protein homodimerization activity; protein-cysteine methyltransferase activity; unmethylated CpG binding; zinc ion binding |
| Biological Process: anterior/posterior pattern specification; apoptotic process; cellular response to transforming growth factor beta stimulus; circadian regulation of gene expression; definitive hemopoiesis; DNA methylation; embryonic hemopoiesis; epigenetic regulation of gene expression; exploration behavior; fibroblast proliferation; histone H3-K4 methylation; histone H3-K4 trimethylation; homeostasis of number of cells within a tissue; membrane depolarization; negative regulation of fibroblast proliferation; peptidyl-lysine monomethylation; positive regulation of DNA-templated transcription; positive regulation of transcription by RNA polymerase II; positive regulation of transporter activity; post-embryonic development; protein-containing complex assembly; regulation of short-term neuronal synaptic plasticity; response to potassium ion; spleen development; T-helper 2 cell differentiation; transcription initiation-coupled chromatin remodeling; visual learning |
| 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®
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MLL |
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| Cross-references to other databases:
STRING
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cBioPortal
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CCLE
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Wikipedia
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neXtProt
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Protein Atlas
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BioGPS
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Pfam
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