纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | TOR1A |
Uniprot No | O14656 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 21-332aa |
氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MVEPISLGLA LAGVLTGYIY PRLYCLFAEC CGQKRSLSRE ALQKDLDDNL FGQHLAKKII LNAVFGFINN PKPKKPLTLS LHGWTGTGKN FVSKIIAENI YEGGLNSDYV HLFVATLHFP HASNITLYKD QLQLWIRGNV SACARSIFIF DEMDKMHAGL IDAIKPFLDY YDLVDGVSYQ KAMFIFLSNA GAERITDVAL DFWRSGKQRE DIKLKDIEHA LSVSVFNNKN SGFWHSSLIH RNLIDYFVPF LPLEYKHLKM CIRVEMQSRG YEIDEDIVSR VAEEMTFFPK EERVFSDKGC KTVFTKLDYY YDD |
预测分子量 | 38 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TOR1A重组蛋白的3篇代表性文献示例(注:以下内容为模拟摘要,实际文献请通过学术数据库查询):
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1. **文献名称**: "Expression and Purification of Recombinant TorsinA in a Bacterial System for Functional Studies"
**作者**: Smith J, et al.
**摘要**: 该研究报道了在大肠杆菌中高效表达并纯化重组人源TOR1A蛋白的方法。通过优化表达条件及亲和层析技术获得高纯度蛋白,并验证其ATP酶活性,为后续体外功能研究提供可靠工具。
2. **文献名称**: "Structural Insights into the DYT1 Mutation ΔE302/303 in TorsinA via Cryo-EM Analysis"
**作者**: Li X, et al.
**摘要**: 利用冷冻电镜解析了携带DYT1型肌张力障碍常见突变(ΔE302/303)的重组TOR1A蛋白结构,发现突变导致AAA+结构域构象变化,影响其与核膜蛋白相互作用,为疾病机制提供分子层面解释。
3. **文献名称**: "TorsinA Recombinant Protein Rescues Nuclear Envelope Defects in Cellular Models of DYT1 Dystonia"
**作者**: Garcia GP, et al.
**摘要**: 研究通过体外表达重组TOR1A蛋白,证明其能够修复DYT1患者成纤维细胞中核膜异常表型,并揭示其通过调控LINC复合物维持核膜完整性的功能,为基因治疗策略奠定基础。
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如需具体文献,建议在PubMed或Web of Science中检索关键词:**TOR1A recombinant protein**、**torsinA expression**、**DYT1 structural analysis**。
**Background of TOR1A Recombinant Protein**
TOR1A, also known as Torsin-1A, is a protein encoded by the *TOR1A* gene in humans. It belongs to the AAA+ (ATPases Associated with Diverse Cellular Activities) superfamily of ATPases, which are involved in energy-dependent conformational changes to facilitate processes like protein folding, membrane trafficking, and organelle biogenesis. Torsin-1A is predominantly localized in the endoplasmic reticulum (ER) and nuclear envelope, where it interacts with cofactors such as LAP1 and LULL1 to regulate membrane dynamics and nucleocytoplasmic transport.
Mutations in *TOR1A*, particularly the ΔE302/303 deletion, are linked to early-onset torsion dystonia (DYT1), a neurological disorder characterized by involuntary muscle contractions. This autosomal dominant mutation disrupts Torsin-1A’s ATPase activity and its ability to interact with binding partners, leading to ER/nuclear envelope dysfunction. These insights have driven interest in studying recombinant TOR1A protein to dissect its molecular mechanisms and disease pathology.
Recombinant TOR1A protein is produced using heterologous expression systems (e.g., *E. coli*, mammalian cells) to enable biochemical and structural analyses. Studies using this tool have clarified its ATP hydrolysis cycle, substrate interactions, and the functional impact of dystonia-associated mutations. Additionally, recombinant Torsin-1A aids in exploring therapeutic strategies, such as small molecule modulators or gene therapy, to restore its activity in DYT1. Structural studies (e.g., cryo-EM) of the recombinant protein have further revealed conformational states critical for its role in membrane remodeling.
Overall, TOR1A recombinant protein serves as a vital resource for understanding Torsin biology, neuropathology, and developing targeted interventions for dystonia and related disorders.
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