| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PRPS1 |
| Uniprot No | P60891 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-318aa |
| 氨基酸序列 | PNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL |
| 预测分子量 | 50.7kDa |
| 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PRPS1重组蛋白的3篇参考文献示例，包含文献名称、作者及摘要内容概括：
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1. **文献名称**: *"Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site"*
**作者**: Li S., et al.
**摘要**: 该研究解析了人源PRPS1重组蛋白的晶体结构，发现了一个新型变构调节位点，揭示了ATP和底物结合如何通过构象变化调控酶活性，为遗传性疾病相关突变的致病机制提供了结构基础。
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2. **文献名称**: *"Functional characterization of PRPS1 mutations associated with arts syndrome and hereditary hearing loss"*
**作者**: de Brouwer A.P.M., et al.
**摘要**: 通过重组表达PRPS1突变体蛋白，分析了Arts综合征和遗传性耳聋相关突变(如D52H、N114S)对酶动力学的影响，发现突变导致酶活性显著降低，揭示了PRPS1功能缺陷与神经系统疾病的关系。
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3. **文献名称**: *"Recombinant expression and purification of human PRPS1 for biochemical and drug screening assays"*
**作者**: Smith J.R., et al.
**摘要**: 开发了一种高效的大肠杆菌表达系统，用于生产高纯度人源PRPS1重组蛋白，优化了纯化流程，并验证其在体外酶活性和抑制剂筛选中的应用潜力，为药物开发提供了技术平台。
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**备注**：上述文献为示例，实际文献需通过PubMed、Web of Science或Google Scholar检索确认。若需具体文献，建议使用关键词“PRPS1 recombinant protein”、“PRPS1 structure/function”或“PRPS1 mutation”进行深入查询。
PRPS1 (phosphoribosyl pyrophosphate synthetase 1) is a key enzyme in nucleotide metabolism, catalyzing the synthesis of phosphoribosyl pyrophosphate (PRPP), a critical substrate for purine/pyrimidine biosynthesis and salvage pathways. Encoded by the PRPS1 gene located on the X chromosome (Xq22.3), this ATP-dependent enzyme exists as a hexamer and regulates cellular nucleotide pools, impacting DNA/RNA synthesis, energy transfer, and glycosylation processes. Its activity is tightly controlled by feedback inhibition via purine nucleotides and allosteric activation by inorganic phosphate.
Mutations in PRPS1 are linked to multiple human disorders. Gain-of-function variants cause PRPS1 superactivity, associated with hyperuricemia, gout, and neurodevelopmental impairments. Conversely, loss-of-function mutations result in Arts syndrome (deafness, ataxia, optic atrophy), Charcot-Marie-Tooth disease type 5. and X-linked nonsyndromic sensorineural hearing loss. These conditions highlight PRPS1's dual role in metabolic homeostasis and neurological function.
Recombinant PRPS1 protein, typically produced in E. coli or mammalian expression systems with affinity tags (e.g., His-tag), serves as a vital tool for functional studies. Researchers use it to investigate enzyme kinetics, mutation effects, and nucleotide metabolism dysregulation mechanisms. Purification methods often involve nickel-affinity chromatography followed by size-exclusion polishing. Current applications extend to drug screening for metabolic disorders and exploring therapeutic strategies like enzyme replacement or allosteric modulation. Its recombinant form also aids in structural studies (e.g., X-ray crystallography) to visualize catalytic sites and mutation impacts, advancing our understanding of PRPS1-related pathologies at molecular levels.
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