NP_056153.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
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 transcriptional regulator 1
NCBI Official Synonym Symbols
NCBI Protein Information
putative Polycomb group protein ASXL1
UniProt Protein Name
Putative Polycomb group protein ASXL1
UniProt Synonym Protein Names
Additional sex combs-like protein 1
UniProt Synonym Gene Names
UniProt Entry Name
ASXL1_HUMAN
NCBI Summary for ASXL1
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 Comments for ASXL1
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: protein binding; peroxisome proliferator activated receptor binding; DNA binding; retinoic acid receptor binding; metal ion binding; transcription coactivator activity; transcription corepressor activity
Biological Process: negative regulation of retinoic acid receptor signaling pathway; response to retinoic acid; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of retinoic acid receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; negative regulation of fat cell differentiation
Disease: Bohring-opitz Syndrome; Myelodysplastic Syndrome
Research Articles on ASXL1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with ASXL1 sirna
Diseases associated with ASXL1 sirna
Organs/Tissues associated with ASXL1 sirna
|