Ataxin-1 (ATXN1) is a nuclear-cytoplasmic shuttling protein that plays roles in transcriptional regulation, RNA processing, and synaptic development. Expansions of a CAG trinucleotide repeat in the ATXN1 gene cause Spinocerebellar Ataxia Type 1 (SCA1), an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar degeneration and brainstem dysfunction.[@orr1993]
Structure and Domains
Ataxin-1 contains several functional domains:
AXH domain (Ataxin-1/HBP1) — mediates protein-protein interactions and RNA binding
Ataxin-1 (ATXN1) is a nuclear-cytoplasmic shuttling protein that plays roles in transcriptional regulation, RNA processing, and synaptic development. Expansions of a CAG trinucleotide repeat in the ATXN1 gene cause Spinocerebellar Ataxia Type 1 (SCA1), an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar degeneration and brainstem dysfunction.[@orr1993]
Structure and Domains
Ataxin-1 contains several functional domains:
AXH domain (Ataxin-1/HBP1) — mediates protein-protein interactions and RNA binding
[Orr HT, et al, Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia 1 (1993)](https://doi.org/10.1038/ng1193-221)
[de Chiara C, et al, The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins (2009)](https://doi.org/10.1523/JNEUROSCI.4905-08.2009)
[Lam YC, et al, The AXH domain of Ataxin-1 mediates protein-protein and protein-RNA interactions (2012)](https://doi.org/10.1016/j.jmb.2012.01.015)
[Klement IA, et al, Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice (1998)](https://doi.org/10.1016/s0092-8674(00)
[Park J, et al, Genetic modifiers of SCA1 identified through genome-wide association study in a founder population (2021)](https://doi.org/10.1093/brain/awaa357)