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Recombinant Human NPHP1 protein

  • 中文名: 肾胱氨酸-1(NPHP1)重组蛋白
  • 别    名: NPHP1;NPH1;Nephrocystin-1
货号: PA2000-2130
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数量:
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产品详情

纯度>90%SDS-PAGE.
种属Human
靶点NPHP1
Uniprot No O15259
内毒素< 0.01EU/μg
表达宿主E.coli
表达区间 1-109aa
氨基酸序列MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENIT
预测分子量 39.7 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.

参考文献

以下是关于NPHP1重组蛋白的3篇参考文献示例(文献信息为模拟,仅供参考):

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1. **文献名称**:*Structural and functional analysis of the NPHP1 gene product nephrocystin*

**作者**:Olbrich H, et al.

**摘要**:研究通过重组NPHP1蛋白表达,揭示了其与细胞骨架蛋白(如β-tubulin)的相互作用,表明NPHP1在纤毛结构和肾小管上皮细胞极性中起关键作用,突变导致青少年肾痨的分子机制。

2. **文献名称**:*Nephrocystin-1 interacts with Pyk2 to regulate cell adhesion and motility*

**作者**:Donaldson JC, et al.

**摘要**:利用重组NPHP1蛋白进行体外结合实验,证明其与酪氨酸激酶Pyk2的直接结合,调控细胞黏附和迁移,为NPHP1缺陷引发的肾囊肿病理提供机制解释。

3. **文献名称**:*Recombinant NPHP1 exhibits E3 ubiquitin ligase activity and targets filamin A for degradation*

**作者**:Hoff S, et al.

**摘要**:通过大肠杆菌表达重组NPHP1蛋白,发现其具有泛素连接酶活性,可介导filamin A的泛素化降解,提示NPHP1在细胞骨架动态平衡中的新功能。

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**注**:以上文献信息为示例,实际引用需以具体数据库(如PubMed、Google Scholar)检索结果为准。建议使用关键词“NPHP1 recombinant protein”或“nephrocystin-1 expression”进一步筛选近年研究。

背景信息

**Background of NPHP1 Recombinant Protein**

NPHP1 (nephrocystin-1) is a protein encoded by the *NPHP1* gene, located on human chromosome 2q13. It plays a critical role in maintaining renal tissue architecture and ciliary function. Mutations in *NPHP1* are associated with nephronophthisis (NPHP), an autosomal recessive kidney disorder that represents the most common genetic cause of end-stage renal disease in children. NPHP1 is a component of the nephrocystin protein complex, which localizes to primary cilia and cell-cell junctions, suggesting involvement in signaling pathways, cell polarity, and microtubule organization.

Recombinant NPHP1 protein is produced using biotechnological methods, such as expression in bacterial (e.g., *E. coli*) or mammalian systems, to study its structure, interactions, and functional mechanisms. The protein contains conserved domains, including an SH3-binding motif and coiled-coil regions, which mediate interactions with other nephrocystin family proteins (e.g., NPHP4) and signaling molecules. These interactions are vital for renal tubular development and ciliary stability.

Research on NPHP1 recombinant protein has advanced understanding of ciliopathies—a group of disorders linked to defective cilia. It serves as a tool for investigating disease-associated mutations, screening therapeutic compounds, and developing diagnostic assays. Additionally, studies using recombinant NPHP1 have highlighted its role in cellular pathways such as Wnt signaling and planar cell polarity, which are disrupted in cystic kidney diseases.

Overall, NPHP1 recombinant protein is a key resource for unraveling the molecular basis of NPHP and related ciliopathies, offering potential avenues for targeted therapies and biomarker discovery.

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