ASXL1
Sign in to saveAlso known as BOPS, MDS, additional sex combs like 1, transcriptional regulator, ASXL transcriptional regulator 1
Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.
Gene data
ASXL1- Name
- ASXL transcriptional regulator 1
- Type
- protein-coding
- Position
- 32,358,266–32,439,319 (+)
- Aliases
- BOPS, MDS
- Ensembl
- ENSG00000171456
- RefSeq RNA
- NM_001164603.1, NM_001363734.1, NM_015338.6, XM_006723727.4, XM_006723728.4
- RefSeq protein
- NP_001158075.1, NP_001350663.1, NP_056153.2, XP_006723790.1, XP_006723791.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
ASXL transcriptional regulator 1
- Symbol
- ASXL1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:32,358,266-32,439,319
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 9098
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/171023
- genomic end
- 31027122
- genomic start
- 32358330
- chromosome
- human chromosome 20
- cytogenetic location
- 20q11.21
- genetic association
- acute myeloid leukemia
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- See also
- References
- Further reading
- External links
Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.
In Drosophila, the Additional sex combs (Asx) gene 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.
Excerpted from Wikipedia’s “ASXL1” article, available under the CC BY-SA 4.0 licence.