|Other Names||Putative Polycomb group protein ASXL1, Additional sex combs-like protein 1, ASXL1, KIAA0978|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI 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.|
|Function||Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1).|
|Tissue Location||Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes|
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This gene is similar to the Drosophila additional sexcombs gene, which encodes a chromatin-binding protein required fornormal determination of segment identity in the developing embryo.The protein is a member of the Polycomb group of proteins, whichare necessary for the maintenance of stable repression of homeoticand other loci. The protein is thought to disrupt chromatin inlocalized areas, enhancing transcription of certain genes whilerepressing the transcription of other genes. The protein encoded bythis gene functions as a ligand-dependent co-activator for retinoicacid receptor in cooperation with nuclear receptor coactivator 1.Mutations in this gene are associated with myelodysplasticsyndromes and chronic myelomonocytic leukemia. Alternative splicingresults in multiple transcript variants.
Abdel-Wahab, O., et al. Leukemia 24(9):1656-1657(2010)Szpurka, H., et al. Leuk. Res. 34(8):969-973(2010)Sugimoto, Y., et al. Br. J. Haematol. 150(1):83-87(2010)Boultwood, J., et al. Leukemia 24(6):1139-1145(2010)Rocquain, J., et al. BMC Cancer 10, 401 (2010) :
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