Symbol: Name: ID: |
ASXL1 additional sex combs like 1 (Drosophila) GFS:7190 |
Gene name: | ASXL1 |
Chromosome: | 20q11 |
Previous Symbols: | |
Previous Names: | |
Aliases: | KIAA0978 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2684063 | Rat Genome Database ID: | |
HGNC ID: | HGNC:18318 | RefSeq IDs: | NM_001164603 |
Entrez Gene ID: | 171023 | Ensembl Gene ID: | ENSG00000171456 |
VEGA IDs: | OTTHUMG00000032218 | UniProt ID: | Q8IXJ9 |
UCSC ID: | uc002wxs.2 | OMIM ID: | 612990 |
Pubmed: | PMID12657473 | ||
CCDS IDs: | CCDSCCDS13201.1 |
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. [provided by RefSeq, Sep 2009].
Function: Probable Polycomb group (PcG) protein. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1).
Products for ASXL1 gene
Catalog | Product Name | Application | Company |
GFS:E07190 | additional sex combs like 1 (Drosophila); ELISA kit | ELISA | n/a |
GFS:A07190 | additional sex combs like 1 (Drosophila); Anti | ANTIBODIES | n/a |
GFS:P07190 | additional sex combs like 1 (Drosophila); Protien | Protien | n/a |