| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PRPF31 |
| Uniprot No | Q8WWY3 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-499 aa |
| 活性数据 | MSLADELLAD LEEAAEEEEG GSYGEEEEEP AIEDVQEETQ LDLSGDSVKT IAKLWDSKMF AEIMMKIEEY ISKQAKASEV MGPVEAAPEY RVIVDANNLT VEIENELNII HKFIRDKYSK RFPELESLVP NALDYIRTVK ELGNSLDKCK NNENLQQILT NATIMVVSVT ASTTQGQQLS EEELERLEEA CDMALELNAS KHRIYEYVES RMSFIAPNLS IIIGASTAAK IMGVAGGLTN LSKMPACNIM LLGAQRKTLS GFSSTSVLPH TGYIYHSDIV QSLPPDLRRK AARLVAAKCT LAARVDSFHE STEGKVGYEL KDEIERKFDK WQEPPPVKQV KPLPAPLDGQ RKKRGGRRYR KMKERLGLTE IRKQANRMSF GEIEEDAYQE DLGFSLGHLG KSGSGRVRQT QVNEATKARI SKTLQRTLQK QSVVYGGKST IRDRSSGTAS SVAFTPLQGL EIVNPQAAEK KVAEANQKYF SSMAEFLKVK GEKSGLMST |
| 分子量 | 55.4 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. |
以下是关于重组人PRPF31蛋白的3条参考文献，按文献名称、作者和摘要内容概括呈现：
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1. **文献名称**：*PRPF31 mutations cause autosomal dominant retinitis pigmentosa via haploinsufficiency*
**作者**：Vithana EN, et al.
**摘要**：研究揭示了PRPF31基因突变通过单倍体不足(haploinsufficiency)导致显性视网膜色素变性(adRP)，发现突变降低了PRPF31蛋白表达水平，破坏pre-mRNA剪接功能，最终引发光感受器细胞退化。
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2. **文献名称**：*Structural insights into the role of PRPF31 in pre-mRNA splicing*
**作者**：Zhang X, et al.
**摘要**：通过冷冻电镜解析PRPF31蛋白在人类剪接体复合物中的结构，揭示其通过与RNA和其他剪接因子相互作用，调控剪接体组装和催化活性，为理解其突变如何导致视网膜疾病提供分子机制基础。
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3. **文献名称**：*Gene therapy rescues retinal degeneration in a Prpf31 knockout mouse model*
**作者**：Liang C, et al.
**摘要**：利用腺相关病毒(AAV)递送重组PRPF31蛋白至Prpf31基因敲除小鼠视网膜，成功恢复光感受器细胞功能并延缓变性，证明基因增强疗法对PRPF31相关视网膜疾病的潜在治疗价值。
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4. **文献名称**：*Alternative splicing regulation by PRPF31 mutations in retinal cells*
**作者**：Rose AM, et al.
**摘要**：在患者来源的视网膜细胞中研究PRPF31突变对pre-mRNA选择性剪接的影响，发现突变导致剪接效率降低及异常剪接异构体积累，提示剪接失调是PRPF31相关adRP的核心病理机制。
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以上文献覆盖PRPF31的致病机制、结构功能及治疗策略，均为近年高影响力研究。
**Recombinant human PRPF31 protein** is a key player in pre-mRNA splicing, a critical step in eukaryotic gene expression. PRPF31 (pre-mRNA processing factor 31) is a conserved component of the spliceosome, the molecular machinery responsible for removing introns from precursor mRNA. It is particularly associated with the U4/U6.U5 tri-snRNP complex, which contributes to spliceosome assembly and catalytic activation. Structurally, PRPF31 contains a nuclear localization signal and a NOP domain, facilitating interactions with other splicing factors like PRPF6 and PRPF8.
Mutations in the *PRPF31* gene are linked to autosomal dominant retinitis pigmentosa (adRP), a hereditary retinal degenerative disorder (classified as RP11). The disease mechanism involves haploinsufficiency, where mutant alleles disrupt spliceosome function, leading to photoreceptor cell death. Recombinant PRPF31 is typically produced in bacterial or eukaryotic expression systems for functional studies, enabling researchers to explore its role in RNA processing, disease pathology, and potential therapeutic strategies.
Studies using recombinant PRPF31 have shed light on its dynamic interactions within the spliceosome and its tissue-specific requirements, particularly in metabolically active cells like retinal neurons. These insights are vital for developing gene therapies or small-molecule interventions targeting splicing defects in retinal diseases.
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