| 纯度 | >95%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PABPN1 |
| Uniprot No | Q86U42 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 119-306aa |
| 氨基酸序列 | MGSSHHHHHHSSGLVPRGSHMGSLEAIKARVREMEEEAEKLKELQNEVEK QMNMSPPPGNAGPVIMSIEEKMEADARSIYVGNVDYGATAEELEAHFHGC GSVNRVTILCDKFSGHPKGFAYIEFSDKESVRTSLALDESLFRGRQIKVI PKRTNRPGISTTDRGFPRARYRARTTNYNSSRSRFYSGFNSRPRGRVYRG RARATSWYSPY |
| 预测分子量 | 24 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. |
1. **"Structural insights into poly(A) binding protein nuclear 1 (PABPN1) and its interaction with RNA"**
- **作者**: Bravo J., et al.
- **摘要**: 该研究通过X射线晶体学解析了重组人源PABPN1的核结构域，揭示了其与多聚腺苷酸(poly(A))RNA结合的关键区域，并阐明了其通过串联RRM结构域与RNA相互作用的分子机制。
2. **"Aggregation properties of expanded polyalanine repeats in PABPN1 linked to oculopharyngeal muscular dystrophy"**
- **作者**: Fan X., et al.
- **摘要**: 研究利用重组表达的PABPN1蛋白(包含病理性多聚丙氨酸扩展突变)，通过体外实验证明突变蛋白易形成核内聚集体，并揭示了其异常聚集与眼咽型肌营养不良症(OPMD)发病机制的关联。
3. **"Expression and purification of recombinant PABPN1 for functional and biophysical studies"**
- **作者**: Tavanez J.P., et al.
- **摘要**: 报道了一种高效的大肠杆菌表达系统，用于制备高纯度重组PABPN1蛋白，并通过凝胶迁移实验(EMSA)验证其与poly(A) RNA的结合活性，为后续功能研究提供可靠工具。
4. **"Dynamic nuclear localization of PABPN1 and its role in mRNA polyadenylation"**
- **作者**: Kühn U., et al.
- **摘要**: 研究利用荧光标记的重组PABPN1蛋白，结合活细胞成像技术，揭示了PABPN1在细胞核内的动态分布及其与poly(A)聚合酶协同调控mRNA尾端加长的分子过程。
(注：以上文献为示例性概括，实际引用时需根据具体论文内容调整。)
PABPN1 (Polyadenylate-Binding Protein Nuclear 1) is a critical RNA-binding protein involved in post-transcriptional gene regulation. Originally identified as a nuclear counterpart to cytoplasmic poly(A)-binding proteins, it plays a central role in mRNA polyadenylation and stability. The protein contains an N-terminal acidic domain, a RNA recognition motif (RRM), and a C-terminal proline-rich domain. It interacts with poly(A) polymerase to control poly(A) tail elongation during transcription termination, while preventing excessive tail extension through its "clamping" function.
Mutations in the PABPN1 gene, particularly alanine repeat expansions in its N-terminal domain, are linked to oculopharyngeal muscular dystrophy (OPMD), an adult-onset neuromuscular disorder characterized by muscle weakness and swallowing difficulties. Wild-type PABPN1 typically contains 10 alanines, while pathogenic variants harbor 11-18 alanines. These mutations induce protein aggregation, nuclear inclusion formation, and cellular toxicity, though the precise disease mechanism remains under investigation.
Recombinant PABPN1 proteins, produced via bacterial or mammalian expression systems, are essential tools for studying RNA processing dynamics, protein-RNA interactions, and OPMD pathology. They enable in vitro modeling of polyadenylation processes, aggregation mechanisms, and drug screening for potential therapeutics. Engineered variants with modified alanine repeats help dissect structure-function relationships and mutation effects. Recent studies also explore recombinant PABPN1 in gene therapy approaches using viral vectors to compensate for dysfunctional protein in OPMD models. Its dual role as both a regulator of mRNA processing and a disease-associated protein makes it a compelling subject for basic research and therapeutic development.
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