|Other Names||Histone-lysine N-methyltransferase 2A, Lysine N-methyltransferase 2A, ALL-1, CXXC-type zinc finger protein 7, Myeloid/lymphoid or mixed-lineage leukemia, Myeloid/lymphoid or mixed-lineage leukemia protein 1, Trithorax-like protein, Zinc finger protein HRX, MLL cleavage product N320, N-terminal cleavage product of 320 kDa, p320, MLL cleavage product C180, C-terminal cleavage product of 180 kDa, p180, KMT2A, ALL1, CXXC7, HRX, HTRX, MLL, MLL1, TRX1|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP2518a was selected from the N-term region of human HRX . A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||The synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml deionized water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||ALL1, CXXC7, HRX, HTRX, MLL, MLL1, TRX1|
|Function||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. 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 (By similarity).|
|Cellular Location||Nucleus. MLL cleavage product C180: Nucleus. Note=Localizes to a diffuse nuclear pattern when not associated with MLL cleavage product N320|
|Tissue Location||Heart, lung, brain and T- and B-lymphocytes.|
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The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. Tse et al. (1995) characterized 2 t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21, AF1Q, in 2 infants with acute myelomonocytic leukemia. In one of these patients, the derivative chromosome 11 represented an in-frame fusion of the N-terminal portion of the MLL gene to the complete AF1Q open reading frame, whereas the derivative chromosome 1 did not give rise to an open reading frame. This observation suggested that the N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23.
Megonigal, M.D., et al., Proc. Natl. Acad. Sci. U.S.A. 97(6):2814-2819 (2000).Pegram, L.D., et al., Blood 96(13):4360-4362 (2000).Sano, K., et al., Blood 95(3):1066-1068 (2000).Cui, X., et al., Nat. Genet. 18(4):331-337 (1998).Nilson, I., et al., Br. J. Haematol. 93(4):966-972 (1996).
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