ASXL1, Recombinant Protein

Putative Polycomb group protein ASXL1; Additional sex combs-like protein 1; ASXL1; KIAA0978;

For Research Use Only. Not for use in diagnostic procedures.

E Coli

>90% as determined by reducing SDS-PAGE.

Supplied as a 0.2 mum filtered solution of 20mM PB, 150mM NaCl, pH7.4.

Store at < -20 degree C, stable for 6 months. Please minimize freeze-thaw cycles.

Manufactured in an ISO 9001:2015 Certified Laboratory.

Small volumes of ASXL1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Protein Construction: Recombinant Human ASXL1 is produced by our E Coli expression system and the target gene encoding Lys1477-Arg1541 is expressed with a GST tag at the N-terminus.

Background: Putative Polycomb group protein ASXL1 involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). It acts as coactivator of RARA and RXRA through association with NCOA1. ASXL1 also 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.

Molecular Mass: 33.6kDa
Actual Protein Molecular Mass: 38kDa

ASXL transcriptional regulator 1

putative Polycomb group protein ASXL1

Putative Polycomb group protein ASXL1

KIAA0978  [Similar Products]

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]

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

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