ASXL1 recombinant protein

Recombinant Human ASXL1 Protein

Cat. Num. AAA8248574

• Gene Names: ASXL1; MDS; BOPS
• Reactivity: Human
• Applications: ELISA, Western Blot, SDS-Page
• Purity: Greater than 95% as determined by reducing SDS-PAGE.
• Synonyms: ASXL1; Recombinant Human ASXL1 Protein; KIAA0978; Putative Polycomb group protein ASXL1; Additional sex combs-like protein 1; ASXL1 recombinant protein

• Host: E Coli
• Reactivity: Human
• Purity/Purification: Greater than 95% as determined by reducing SDS-PAGE.
• Form/Format: Lyophilized from a 0.2 muM filtered solution of 20mM PB, 150mM NaCl, pH 7.4.
• Sequence: MSPILGYWKI KGLVQPTRLL LEYLEEKYEE HLYERDEGDK WRNKKFELGL EFPNLPYYID GDVKLTQSMA IIRYIADKHN MLGGCPKERA EISMLEGAVL DIRYGVSRIA YSKDFETLKV DFLSKLPEML KMFEDRLCHK TYLNGDHVTH PDFMLYDALD VVLYMDPMCL DAFPKLVCFK KRIEAIPQID KYLKSSKYIA WPLQGWQATF GGGDHPPKSD LEVLFQGPLG SKANFGASHS ASLSLQMFTD SSTVESISLQ CACSLKAMIM CQGCGAFCHD DCIGPSKLCV LCLVVR
• Sequence Length: 1541

• Applicable Applications for ASXL1 recombinant protein: ELISA (EIA),Western Blot (WB), SDS-PAGE, Mass Spectrometry (MS)
• Endotoxin: Less than 0.1 ng/mug (1 IEU/mug) as determined by LAL test.
• Directions for Use: Always centrifuge tubes before opening. Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100 mug/ml. Dissolve the lyophilized protein in 1X PBS. Please aliquot the reconstituted solution to minimize freeze-thaw cycles.
• Preparation and Storage: Lyophilized protein should be stored at -20 degree C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 2-8 degree C for 2-7 days. Aliquots of reconstituted samples are stable at -20 degree C for 3 months.

Related Product Information for ASXL1 recombinant protein

Recombinant Human ASXL1 Protein 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.

NCBI and Uniprot Product Information

• NCBI GI #: 29570782
• NCBI GeneID: 171023
• NCBI Accession #: NP_056153.2
• NCBI GenBank Nucleotide #: NM_015338.5
• UniProt Accession #: Q8IXJ9; Q5JWS9; Q8IYY7; Q9H466; Q9NQF8; Q9UFJ0; Q9UFP8; Q9Y2I4; B2RP59
• Molecular Weight: 53,374 Da
• NCBI Official Full Name: putative Polycomb group protein ASXL1 isoform 1
• NCBI Official Synonym Full Names: additional sex combs like 1, transcriptional regulator
• NCBI Official Symbol: ASXL1
• NCBI Official Synonym Symbols: MDS; BOPS
• NCBI Protein Information: putative 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
• UniProt Entry Name: ASXL1_HUMAN

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

Cellular Component: nuclear chromatin

Molecular Function: peroxisome proliferator activated receptor binding; protein binding; retinoic acid receptor binding; transcription coactivator activity; transcription corepressor activity

Biological Process: negative regulation of fat cell differentiation; negative regulation of retinoic acid receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; positive regulation of retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; response to retinoic acid

Disease: Bohring-opitz Syndrome; Myelodysplastic Syndrome