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MLL3
Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine |
| Chromosomal Location of human Ortholog: 7q36.1 |
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Cellular Component:
histone methyltransferase complex; MLL3/4 complex; nucleoplasm; nucleus
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Molecular Function:
acyltransferase activity; DNA binding; histone binding; histone H3K4 methyltransferase activity; histone H3K4 monomethyltransferase activity; histone H3K4 trimethyltransferase activity; histone methyltransferase activity; metal ion binding; protein binding; transcription coactivator activity
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Biological Process:
chromatin remodeling; histone H3-K4 methylation; positive regulation of transcription by RNA polymerase II; response to electrical stimulus
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Disease: Kleefstra Syndrome 2
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Reference #:
Q8NEZ4
(UniProtKB)
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Alt. Names/Synonyms: ALR-like protein; DKFZp686C08112; FLJ12625; FLJ38309; HALR; Histone-lysine N-methyltransferase 2C; Histone-lysine N-methyltransferase MLL3; histone-lysine N-methyltransferase, H3 lysine-4 specific; Homologous to ALR protein; KIAA1506; KLEFS2; KMT2C; lysine (K)-specific methyltransferase 2C; lysine methyltransferase 2C; Lysine N-methyltransferase 2C; MGC119851; MGC119852; MGC119853; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; Myeloid/lymphoid or mixed-lineage leukemia protein 3
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Gene Symbols: KMT2C
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Molecular weight:
541,370 Da
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Basal Isoelectric point:
6.07
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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