Rabbit anti-Human ASXL1 Polyclonal Antibody | anti-ASXL1 antibody

Anti-ASXL1 Antibody

Cat. Num. AAA1752964

• Gene Names: ASXL1; MDS; BOPS
• Reactivity: Human
• Applications: Western Blot, Flow Cytometry, Functional Assay, ELISA
• Purity: Immunogen affinity purified.
• Synonyms: ASXL1; Polyclonal Antibody; Anti-ASXL1 Antibody; Putative Polycomb group protein ASXL1; Additional sex combs-like protein 1; KIAA0978; anti-ASXL1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: No cross reactivity with other proteins.
• Purity/Purification: Immunogen affinity purified.
• Form/Format: Lyophilized; Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.
• Sequence Length: 1541

• Applicable Applications for anti-ASXL1 antibody: Western Blot (WB), Flow Cytometry (FC/FACS), Direct ELISA (EIA)
• Application Notes: WB: 0.25-0.5ug/ml (Human); FC/FACS: 1-3ug/1x106 cells (Human); Direct ELISA: 0.1-0.5ug/ml (Human); Tested Species: In-house tested species with positive results.
• Immunogen: E Coli-derived human ASXL1 recombinant protein (Position: A14-R1541).
• Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
• Preparation and Storage: Store at -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen store at -20 degree C for a longer time. Avoid repeated freezing and thawing.

Flow Cytometry (FC/FACS)

Western Blot (WB)

(Figure 1. Western blot analysis of ASXL1 using anti-ASXL1 antibody.)

Related Product Information for anti-ASXL1 antibody

Description: Rabbit IgG polyclonal antibody for ASXL1 detection. Tested with WB, FCM, Direct ELISA in Human.

Background: 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.

References

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.

NCBI and Uniprot Product Information

• NCBI GI #: 29570782
• NCBI GeneID: 171023
• NCBI Accession #: NP_056153.2
• NCBI GenBank Nucleotide #: NP_056153.2
• UniProt Accession #: Q8IXJ9
• NCBI Official Full Name: polycomb group protein ASXL1 isoform 1
• NCBI Official Synonym Full Names: ASXL transcriptional regulator 1
• NCBI Official Symbol: ASXL1
• NCBI Official Synonym Symbols: MDS; BOPS
• NCBI Protein Information: polycomb group protein ASXL1
• UniProt Protein Name: Putative Polycomb group protein ASXL1
• Protein Family: Putative Polycomb group protein
• UniProt Gene Name: ASXL1
• UniProt Synonym Gene Names: KIAA0978

NCBI Description

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. [provided by RefSeq, Sep 2009]

Uniprot Description

ASXL1: 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. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Defects in ASXL1 are the cause of Bohring-Opitz syndrome (BOPS). A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. Defects in ASXL1 are a cause of myelodysplastic syndrome (MDS). A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). Belongs to the Asx family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor co-regulator; Transcription regulation

Chromosomal Location of Human Ortholog: 20q11.21

Cellular Component: nucleoplasm

Molecular Function: DNA binding; metal ion binding; peroxisome proliferator activated receptor binding; protein binding; retinoic acid receptor binding; transcription coactivator activity

Biological Process: bone marrow development; cell morphogenesis; heart morphogenesis; hemopoiesis; homeostasis of number of cells; negative regulation of fat cell differentiation; positive regulation of retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; protein deubiquitination; response to retinoic acid; thymus development; transcription, DNA-dependent

Disease: Bohring-opitz Syndrome; Myelodysplastic Syndrome