ATXN3 Gene Summary [Human]
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
Details
| Type | Processed Transcript |
| Official Symbol | ATXN3 |
| Official Name | ataxin 3 [Source:HGNC Symbol;Acc:HGNC:7106] |
| Ensembl ID | ENSG00000066427 |
| Bio databases IDs | |
| Aliases | ataxin 3 |
| Synonyms | 2210008M02Rik, AI463012, AT3, ATAXIN 3, ATX3, JOS, MJD, MJD1, Rsca3, SCA3 |
| 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 ATXN3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- Ubiquitin interaction motif
- nucleic acid binding
- peptidase
- Unstructured region C-term to UIM in Ataxin3
- transcription factor binding
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- Josephin
- ATPase binding
- double-stranded DNA binding
- ubiquitin binding domain
- polyglutamine repeat
- ubiquitin-specific protease
- histone deacetylase
- glutamine repeat domain
- active site
- ubiquitin-like-specific protease
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- chronic obstructive pulmonary disease
- neurological disorder
- lung adenocarcinoma
- lung adenocarcinoma formation
- ataxia
- spinocerebellar ataxia type 3
- melanoma cancer
- coronary artery disease
- late-onset Parkinson disease
role in cell
- phosphorylation in
- expression in
- quantity
- migration
- apoptosis
- production in
- cell death
- activation in
- degradation in
- accumulation 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
- nuclear fraction
- Cytoplasm
- Plasma Membrane
- cytosol
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrial matrix
- lysosome membrane
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATXN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein deubiquitination
- positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- monoubiquitinated protein deubiquitination
- cellular response to amino acid starvation
- nervous system development
- intermediate filament cytoskeleton organization
- nucleotide-excision repair
- synaptic transmission
- microtubule cytoskeleton organization
- ubiquitin-dependent protein catabolic process
- proteasomal ubiquitin-dependent protein catabolic process
- cellular response to heat
- misfolded or incompletely synthesized protein catabolic process
- regulation of cell-substrate adhesion
- actin cytoskeleton organization
- protein K48-linked deubiquitination
- protein K63-linked deubiquitination
- cellular response to misfolded protein
Cellular Component
Where in the cell the gene product is active
- nuclear inclusion body
- synapse
- nucleolus
- plasma membrane
- lysosomal membrane
- nucleoplasm
- endoplasmic reticulum membrane
- nucleus
- mitochondrial membrane
- mitochondrial matrix
- cytoplasm
- cytosol
- nuclear matrix
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- protein binding
- ubiquitin protein ligase binding
- ATPase binding