Anti-ASXL1 Antibody Picoband® Fluoro647 Conjugated

Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene. This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants.

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.

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 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) . Acts as a sensor of N6-methyladenosine methylation on DNA (m6A) : recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing.

1. Abdel-Wahab, O., Gao, J., Adli, M., Dey, A., Trimarchi, T., Chung, Y. R., Kuscu, C., Hricik, T., Ndiaye-Lobry, D., LaFave, L. M., Koche, R., Shih, A. H., and 15 others. Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. J. Exp. Med. 210: 2641-2659, 2013. 2. Carbuccia, N., Murati, A., Trouplin, V., Brecqueville, M., Adelaide, J., Rey, J., Vainchenker, W., Bernard, O. A., Chaffanet, M., Vey, N., Birnbaum, D., Mozziconacci, M. J. Mutations of ASXL1 gene in myeloproliferative neoplasms. (Letter) Leukemia 23: 2183-2186, 2009. 3. Chou, W.-C., Huang, H.-H., Hou, H.-A., Chen, C.-Y., Tang, J.-L., Yao, M., Tsay, W., Ko, B.-S., Wu, S.-J., Huang, S.-Y., Hsu, S.-C., Chen, Y.-C., Huang, Y.-N., Chang, Y.-C., Lee, F.-Y., Liu, M.-C., Liu, C.-W., Tseng, M.-H., Huang, C.-F., Tien, H.-F. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood 116: 4086-4094, 2010.