ASXL1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ASXL1 |
| Official Name | ASXL transcriptional regulator 1 [Source:HGNC Symbol;Acc:HGNC:18318] |
| Ensembl ID | ENSG00000171456 |
| Bio databases IDs | |
| Aliases | ASXL transcriptional regulator 1 |
| Synonyms | ASXL transcriptional regulator 1, BOPS, LOC228790, MDS, RGD1561878 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ASXL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription co-activator
- peroxisome proliferator activated receptor binding
- HB1, ASXL, restriction endonuclease HTH domain
- retinoic acid receptor binding
- DEUBAD_NFRKB
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- myelodysplastic syndrome
- chronic myelomonocytic leukemia
- myelodysplastic-myeloproliferative disease
- neoplasia
- secondary acute myeloid leukemia
- chronic neutrophilic leukemia
- chronic myeloid leukemia
- primary myelofibrosis
- myeloid/lymphoid neoplasm with eosinophilia
role in cell
- expression in
- differentiation
- development
- abnormal morphology
- morphogenesis
- number
- adipogenesis in
- deubiquitination in
- hematopoiesis
- abnormality
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASXL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lung saccule development
- regulation of kidney size
- cell morphogenesis
- hemopoiesis
- negative regulation of fat cell differentiation
- chromatin organization
- positive regulation of transcription from RNA polymerase II promoter
- bone marrow development
- organ morphogenesis
- thymus development
- positive regulation of retinoic acid receptor signaling pathway
- heart morphogenesis
- response to retinoic acid
- glomerular visceral epithelial cell development
- homeostasis of number of cells
- negative regulation of peroxisome proliferator activated receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- PR-DUB complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- transcription coactivator activity
- metal ion binding
- chromatin binding
- retinoic acid receptor binding
- peroxisome proliferator activated receptor binding