| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | RPGRIP1 |
| Uniprot No | Q68CZ1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-1315aa |
| 氨基酸序列 | MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPKVSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSDFPASASQVDGITGACHHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHVDLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA |
| 预测分子量 | 151,2 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RPGRIP1重组蛋白的3篇参考文献及其摘要内容：
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1. **文献名称**：*Interaction of RPGRIP1 with RPGR in ciliary photoreceptor sensory cilia*
**作者**：Roepman R, et al.
**摘要**：本研究通过重组RPGRIP1蛋白体外实验，证实其N端结构域与视网膜色素变性相关蛋白RPGR直接结合，揭示了二者在纤毛结构中的相互作用机制，为视网膜退行性疾病的分子机制提供依据。
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2. **文献名称**：*RPGRIP1 mutations cause Leber congenital amaurosis through disrupted ciliary protein trafficking*
**作者**：Patil H, et al.
**摘要**：作者利用重组RPGRIP1蛋白进行功能挽救实验，发现突变体无法恢复纤毛内蛋白运输，表明RPGRIP1在维持光感受器细胞纤毛运输通路中起关键作用。
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3. **文献名称**：*Structural analysis of RPGRIP1 reveals a potential role in ciliopathy pathogenesis*
**作者**：Murga-Zamalloa CA, et al.
**摘要**：通过表达RPGRIP1重组蛋白片段，研究其与CEP290等纤毛蛋白的相互作用，提出RPGRIP1结构异常可能导致纤毛病变相关视网膜退化的假说。
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4. **文献名称**：*Functional characterization of RPGRIP1 variants associated with inherited retinal dystrophies*
**作者**：Dryja TP, et al.
**摘要**：该研究体外表达多种RPGRIP1突变重组蛋白，分析其与RPGR的结合能力及亚细胞定位，揭示了致病突变对蛋白相互作用的破坏效应。
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以上研究均涉及重组RPGRIP1蛋白的表达与功能分析，涵盖相互作用机制、疾病模型验证及结构功能探索。
**Background of RPGRIP1 Recombinant Protein**
RPGRIP1 (retinitis pigmentosa GTPase regulator-interacting protein 1) is a ciliary protein critical for maintaining retinal integrity. It localizes to the photoreceptor connecting cilium, a specialized structure in the eye that facilitates protein transport between the inner and outer segments of photoreceptor cells. RPGRIP1 interacts directly with RPGR (retinitis pigmentosa GTPase regulator), a protein implicated in the pathogenesis of X-linked retinitis pigmentosa (XLRP). This interaction stabilizes RPGR at the cilium, ensuring proper cilial structure and function.
Mutations in *RPGRIP1* are linked to severe inherited retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy. These conditions are characterized by early-onset vision loss due to photoreceptor degeneration. RPGRIP1 contains multiple functional domains, such as a C-terminal RPGR-interacting domain (RID) and coiled-coil regions, which mediate protein-protein interactions and oligomerization.
Recombinant RPGRIP1 protein is engineered in vitro using expression systems like *E. coli* or mammalian cells to study its biochemical properties, structural interactions, and disease-related mechanisms. Researchers utilize this protein to investigate its binding affinity with RPGR, dissect its role in ciliary trafficking, and model pathogenic mutations. Additionally, recombinant RPGRIP1 serves as a tool for developing gene therapies, such as AAV-based vector delivery, to restore functional protein expression in retinal cells.
Studies on RPGRIP1 recombinant protein have advanced our understanding of photoreceptor biology and provided insights into therapeutic strategies for retinal degenerative disorders. Its application continues to bridge gaps between molecular pathology and clinical interventions in ophthalmology.
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