Atxn1 Gene Summary [Mouse]
Enables POZ domain binding activity; RNA binding activity; and chromatin binding activity. Involved in brain development; learning or memory; and social behavior. Acts upstream of or within several processes, including negative regulation of insulin-like growth factor receptor signaling pathway; regulation of transcription by RNA polymerase II; and visual learning. Located in nuclear inclusion body. Part of protein-containing complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; liver; and skeleton. Used to study spinocerebellar ataxia type 1. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 1. Orthologous to human ATXN1 (ataxin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Atxn1 |
| Official Name | ataxin 1 [Source:MGI Symbol;Acc:MGI:104783] |
| Ensembl ID | ENSMUSG00000046876 |
| Bio databases IDs | |
| Aliases | ataxin 1 |
| Synonyms | 2900016G23RIK, ataxin 1, ATX1, circATXN1, circRNA-ATXN1, D6S504E, Gm10786, SCA1 |
| 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 Atxn1 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
- self-association domain
- nuclear localization sequence
- chromatin binding
- protein domain specific binding
- protein binding
- identical protein binding
- single-stranded RNA binding
- RNA binding
- poly(U) binding protein
- AXH domain
- Ataxin-1 like family
- polyglutamine repeat
- Ataxin-1 and HBP1 module (AXH)
- glutamine repeat domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- motor dysfunction
- coronary artery disease
- bipolar disorder
- schizophrenia
- atrial fibrillation
- systemic lupus erythematosus
- ischemic cardiomyopathy
- hepatocellular carcinoma
- glioma formation
role in cell
- cell death
- signaling in
- apoptosis
- proliferation
- expression in
- phosphorylation in
- quantity
- formation
- formation in
- dephosphorylation in
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
- interchromatin granule cluster fractions
- Cytoplasm
- cell surface
- cytosol
- nucleoplasm
- perinuclear space
- nucleoli
- nuclear matrix
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Atxn1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- social behavior
- nuclear export
- negative regulation of transcription, DNA-dependent
- nervous system development
- RNA processing
- brain development
- learning
- memory
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear inclusion body
- cytoplasm
- nuclear matrix
- cytosol
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- protein binding
- poly(G) RNA binding
- poly(U) RNA binding