| Ataxin-1 | |
|---|---|
| Gene | ATXN1 |
| UniProt | P54253 |
| PDB | 1OA8 |
| Mol. Weight | 87 kDa (normal), variable with expansion |
| Localization | Nucleus |
| Family | Ataxin family |
| Diseases | Spinocerebellar Ataxia Type 1 |
Ataxin 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Ataxin-1 is a protein encoded by the [ATXN1--TEMP--/genes)--FIX-- gene. It belongs to the Ataxin family family and has a molecular weight of approximately 87 kDa (normal), variable with expansion. This protein is localized to Nucleus and plays a significant role in the pathogenesis of [Spinocerebellar Ataxia Type 1--TEMP--/diseases)--FIX--.
Ataxin-1 has been characterized structurally through X-ray crystallography and cryo-EM. Available PDB structures include: 1OA8.
The protein's three-dimensional structure can also be explored via the AlphaFold Protein Structure Database.
Under physiological conditions, Ataxin-1 performs essential functions in the nervous system. It is primarily found in Nucleus and contributes to normal cellular homeostasis, signaling, and neuronal function.
Ataxin-1 is implicated in the following neurodegenerative conditions:
Misfolding, aggregation, or dysfunction of Ataxin-1 contributes to neuronal damage through various mechanisms including proteotoxic stress, disrupted cellular signaling, and neuroinflammation.
Ataxin-1 represents an important therapeutic target. Multiple drug development programs are exploring strategies to modulate its function, reduce toxic forms, or enhance clearance mechanisms.
The study of Ataxin 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Page auto-generated from NeuroWiki protein database. Last updated: 2026-02-26.
Ataxin-1 has a molecular weight of approximately 47 kDa and contains an N-terminal AXH (Ataxin-1 Homology) domain that mediates protein-protein interactions. The polyglutamine tract is located near the N-terminus and is encoded by a CAG trinucleotide repeat in the ATXN1 gene. Normal individuals have 6-35 CAG repeats, while pathogenic expansions range from 41 to 81 repeats.
Ataxin-1 undergoes several post-translational modifications:
Expanded polyglutamine ataxin-1 leads to disease through several mechanisms:
Current therapeutic strategies include: