Aliases for ASXL1 Gene
External Ids for ASXL1 Gene
Previous GeneCards Identifiers for 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. [provided by RefSeq, Sep 2009]
GeneCards Summary for ASXL1 Gene
ASXL1 (Additional Sex Combs Like 1, Transcriptional Regulator) is a Protein Coding gene. Diseases associated with ASXL1 include Bohring-Opitz Syndrome and Myelodysplastic Syndrome. Among its related pathways are Metabolism of proteins and Deubiquitination. GO annotations related to this gene include transcription coactivator activity and retinoic acid receptor binding. An important paralog of this gene is ASXL3.
UniProtKB/Swiss-Prot for ASXL1 Gene
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 (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at Lys-119 (H2AK119ub1).