| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ATXN1 |
| Uniprot No | P54253 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-815aa |
| 氨基酸序列 | MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRHGPAGTSVELGLQQGIGLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQYAHLPHTFQFIGSSQYSGTYASFIPSQLIPPTANPVTSAVASAAGATTPSQRSQLEAYSTLLANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQQQQQQQQHLSRAPGLITPGSPPPAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHFVPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHPYESRHVVVHPSPSDYSSRDPSGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGKPGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGSLPQHLVIPGTQPLLIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVTQAAYPAMVQAQIHLPVVQSVASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSRHRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESRKLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK |
| 预测分子量 | 86,9 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于ATXN1重组蛋白的3篇代表性文献摘要概览：
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1. **"Recombinant Ataxin-1 Purification and Structural Analysis of Polyglutamine Expansion Effects"**
*Orr HT, Chung MY, Banfi S, et al.*
该研究通过重组表达ATXN1蛋白，分析了多聚谷氨酰胺(PolyQ)扩展对其构象和稳定性的影响，揭示了PolyQ延长导致蛋白异常聚集的分子机制，为脊髓小脑共济失调1型(SCA1)的病理机制提供了实验依据。
2. **"Interaction of Recombinant ATXN1 with RNA-Binding Proteins in Neurodegeneration"**
*Paulson HL, Perez MK, Trottier Y, et al.*
研究利用重组ATXN1蛋白，证明其通过N端结构域与RNA剪接因子(如RBM17)相互作用，PolyQ扩展会增强这种结合，导致剪接异常和神经元毒性，提示转录调控紊乱在SCA1中的作用。
3. **"Phosphorylation-Dependent Regulation of ATXN1 Stability via Recombinant Protein Assays"**
*Tsai CC, Kao HY, Mizutani A, et al.*
通过重组ATXN1蛋白的体外实验，发现Ser776位点的磷酸化修饰增强其与14-3-3伴侣蛋白的结合，从而延缓蛋白酶体降解并促进核内聚集，阐明了翻译后修饰在SCA1中的关键调控作用。
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**备注**：上述文献标题与内容为示例性概括，实际研究需通过PubMed或Google Scholar以关键词“ATXN1 recombinant protein”“polyglutamine”“SCA1”检索具体文献(如Nature Genetics或Neuron期刊论文)。建议优先选择近5-10年内高被引论文，或经典机制研究(如1993年SCA1基因克隆及2000年前后ATXN1功能研究)。
**Background of ATXN1 Recombinant Protein**
ATXN1 (ataxin-1) is a ubiquitously expressed nuclear protein encoded by the *ATXN1* gene, primarily known for its role in the pathogenesis of spinocerebellar ataxia type 1 (SCA1), a fatal autosomal dominant neurodegenerative disorder. The wild-type ATXN1 protein regulates transcription, RNA splicing, and synaptic function, interacting with partners like Capicua (CIC) and the RNA-binding protein RBM17. Its normal function is linked to maintaining neuronal homeostasis, particularly in cerebellar Purkinje cells and brainstem nuclei.
SCA1 is caused by a CAG trinucleotide repeat expansion in the *ATXN1* gene, leading to an extended polyglutamine (polyQ) tract in the mutant protein. When the repeat exceeds 39–44 glutamines, ATXN1 undergoes misfolding, forming toxic aggregates that disrupt cellular processes, including proteostasis and gene expression, ultimately causing neurodegeneration. The polyQ expansion also alters ATXN1’s interactions with cofactors, enhancing its stability and nuclear retention, which exacerbates toxicity.
Recombinant ATXN1 proteins, produced via bacterial or mammalian expression systems, are critical tools for studying SCA1 mechanisms. These purified proteins retain functional domains, including the AXH domain (essential for protein interactions) and the polyQ region, enabling in vitro studies on aggregation kinetics, protein-protein/DNA interactions, and structural dynamics. Researchers use recombinant ATXN1 to model pathogenesis, screen therapeutic compounds targeting aggregation or stability, and analyze post-translational modifications (e.g., phosphorylation at Ser776) that modulate toxicity.
Additionally, recombinant ATXN1 variants (wild-type vs. polyQ-expanded) help dissect molecular pathways underlying neurodegeneration, offering insights into potential gene therapy or small-molecule interventions. Their applications extend to biophysical assays, antibody development, and validating CRISPR/Cas9-based editing strategies. By providing a controlled platform, ATXN1 recombinant proteins remain pivotal in advancing therapeutic research for SCA1 and related polyQ disorders.
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