| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | BBS1 |
| Uniprot No | Q8NFJ9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-593aa |
| 氨基酸序列 | AAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGISDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA |
| 分子量 | 71.9 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 冻干粉 |
| 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BBS1的3-4篇参考文献及其简要摘要：
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1. **文献名称**：*A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis*
**作者**：Nachury, M. V., et al.
**摘要**：该研究首次阐明了BBSome复合体(包括BBS1等蛋白)的结构与功能，提出BBSome通过Rab8 GTP酶调控纤毛膜形成，揭示了BBS1在复合体组装及纤毛发生中的核心作用。
2. **文献名称**：*BBSome Transport via Intraflagellar Transport (IFT) Regulates Ciliary Membrane Protein Localization*
**作者**：Lechtreck, K. F., et al.
**摘要**：研究发现BBSome(含BBS1)依赖IFT系统在纤毛内运输，调控纤毛膜蛋白的定位与信号传导，表明BBS1缺陷会导致纤毛功能障碍，引发代谢及感知异常。
3. **文献名称**：*BBS1 Mediates Recognition of Ciliary Vesicles by BBSome and Promotes Ciliogenesis*
**作者**：Zhang, Q., Nishimura, D., & Kikkawa, M.
**摘要**：通过构建BBS1突变体模型，发现BBS1在识别纤毛前体囊泡中起关键作用，并驱动BBSome复合体与囊泡结合，为BBS综合征的病理机制提供分子解释。
4. **文献名称**：*Identification of the BBS1 Gene as a Candidate for Bardet-Biedl Syndrome*
**作者**：Mykytyn, K., et al.
**摘要**：该研究通过遗传学分析首次将BBS1基因鉴定为Bardet-Biedl综合征(BBS)的主要致病基因之一，揭示了其突变与疾病表型(如肥胖、视网膜退化)的直接关联。
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以上文献涵盖BBS1的结构功能、运输机制、突变效应及基因发现，建议通过PubMed或相关学术数据库检索全文进一步阅读。
BBS1 (Bardet-Biedl Syndrome 1) is a critical protein component of the BBSome, a conserved macromolecular complex involved in intracellular trafficking and ciliary function. The BBSome, composed of eight core proteins (BBS1-BBS9. excluding BBS3), plays a pivotal role in regulating cilia formation, maintenance, and signaling by mediating protein sorting and vesicular transport to/from the cilium. BBS1. encoded by the *BBS1* gene on chromosome 11q13.2. is one of the most frequently mutated genes in Bardet-Biedl Syndrome (BBS), a rare autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, renal anomalies, and cognitive impairments. Functionally, BBS1 serves as a scaffold for BBSome assembly, with its N-terminal domain interacting with other BBS proteins and its C-terminal β-propeller domain implicated in cargo recognition. Mutations in BBS1. particularly the common M390R variant, disrupt BBSome integrity, leading to defective ciliary signaling (e.g., impaired G protein-coupled receptor transport) and aberrant Hedgehog/Wnt pathway activity. These disruptions underlie the multisystemic manifestations of BBS. Research continues to explore BBS1's role in membrane dynamics and its potential therapeutic targeting.
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