Asxl1 Gene Summary [Mouse]
Enables nuclear retinoic acid receptor binding activity; peroxisome proliferator activated receptor binding activity; and transcription coactivator activity. Involved in several processes, including kidney development; negative regulation of fat cell differentiation; and regulation of intracellular signal transduction. Acts upstream of or within several processes, including heart morphogenesis; hematopoietic or lymphoid organ development; and lung saccule development. Located in nucleus. Is expressed in several structures, including brain; dorsal root ganglion; limb bud; paraxial mesenchyme; and salivary gland. Used to study acute myeloid leukemia; myelodysplastic syndrome; and myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis. Orthologous to human ASXL1 (ASXL transcriptional regulator 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Asxl1 |
| Official Name | ASXL transcriptional regulator 1 [Source:MGI Symbol;Acc:MGI:2684063] |
| Ensembl ID | ENSMUSG00000042548 |
| Bio databases IDs | |
| Aliases | ASXL transcriptional regulator 1 |
| Synonyms | ASXL transcriptional regulator 1, BOPS, LOC228790, MDS, RGD1561878 |
| Species | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal iris morphology
- abnormal optic disk morphology
- abnormal retinal pigmentation
- cataract
- corneal opacity
- decreased B cell number
- decreased circulating aspartate transaminase level
- decreased circulating free fatty acid level
- decreased mature B cell number
- increased circulating alkaline phosphatase level
- increased circulating iron level
- increased startle reflex
- process of degenerative change
- abnormal blood cell morphology/development
- abnormal bone marrow cell morphology/development
- abnormal common myeloid progenitor cell morphology
- abnormal coping response
- abnormal cornea morphology
- abnormal craniofacial morphology
- abnormal hematopoietic stem cell physiology
- abnormal hyoid bone morphology
- abnormal immune system cell morphology
- abnormal immune system organ morphology
- abnormal leukocyte morphology
- abnormal liver morphology
- abnormal lymphopoiesis
- abnormal megakaryocyte morphology
- abnormal myelopoiesis
- abnormal neutrophil morphology
- abnormal neutrophil physiology
- abnormal skeleton morphology
- abnormal spleen morphology
- abnormal spleen white pulp morphology
- abnormal thymus morphology
- anemia
- anophthalmia
- cleft palate
- decreased CD4-positive alpha beta T cell number
- decreased T cell number
- decreased body size
- decreased body weight
- decreased bone marrow cell number
- decreased circulating glucose level
- decreased circulating triglyceride level
- decreased erythroid progenitor cell number
- decreased hematopoietic stem cell number
- decreased hemoglobin content
- decreased leukocyte cell number
- decreased lumbar vertebrae number
- decreased lymphocyte cell number
- decreased mean corpuscular hemoglobin
- decreased neutrophil cell number
- decreased pre-B cell number
- decreased spleen red pulp amount
- decreased spleen weight
- enlarged liver
- enlarged spleen
- extramedullary hematopoiesis
- eye opacity
- impaired hematopoiesis
- increased apoptosis
- increased blood uric acid level
- increased bone marrow cell number
- increased cell proliferation
- increased double-negative T cell number
- increased hematopoietic stem cell number
- increased leukemia incidence
- increased leukocyte cell number
- increased malignant tumor incidence
- increased mean corpuscular hemoglobin concentration
- increased monocyte cell number
- increased number of Howell-Jolly bodies
- increased sacral vertebrae number
- increased sarcoma incidence
- increased single-positive T cell number
- lethality throughout fetal growth and development complete penetrance
- lethality throughout fetal growth and development incomplete penetrance
- lethality complete penetrance
- mandible hypoplasia
- microphthalmia
- myeloid hyperplasia
- neonatal lethality incomplete penetrance
- opacity of vitreous body
- polychromatophilia
- postnatal lethality incomplete penetrance
- premature death
- small spleen
- spleen atrophy
- spleen hyperplasia
- thrombocytopenia
- vertebral fusion
- vertebral transformation
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 mouse 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