纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | IQCB1 |
Uniprot No | Q15051 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 1-598aa |
活性数据 | MKPTGTDPRI LSIAAEVAKS PEQNVPVILL KLKEIINITP LGSSELKKIK QDIYCYDLIQ YCLLVLSQDY SRIQGGWTTI SQLTQILSHC CVGLEPGEDA EEFYNELLPS AAENFLVLGR QLQTCFINAA KAEEKDELLH FFQIVTDSLF WLLGGHVELI QNVLQSDHFL HLLQADNVQI GSAVMMMLQN ILQINSGDLL RIGRKALYSI LDEVIFKLFS TPSPVIRSTA TKLLLLMAES HQEILILLRQ STCYKGLRRL LSKQETGTEF SQELRQLVGL LSPMVYQEVE EQKLHQAACL IQAYWKGFQT RKRLKKLPSA VIALQRSFRS KRSKMLLEIN RQKEEEDLKL QLQLQRQRAM RLSRELQLSM LEIVHPGQVE KHYREMEEKS ALIIQKHWRG YRERKNFHQQ RQSLIEYKAA VTLQRAALKF LAKCRKKKKL FAPWRGLQEL TDARRVELKK RVDDYVRRHL GSPMSDVVSR ELHAQAQERL QHYFMGRALE ERAQQHREAL IAQISTNVEQ LMKAPSLKEA EGKEPELFLS RSRPVAAKAK QAHLTTLKHI QAPWWKKLGE ESGDEIDVPK DELSIELENL FIGGTKPP |
分子量 | 68.9 kDa |
蛋白标签 | His tag N-Terminus |
缓冲液 | 0 |
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IQCB1蛋白的3篇代表性文献的简要信息,基于相关领域的研究主题推断其内容:
1. **文献名称**:*Mutation analysis of IQCB1 in patients with nephronophthisis and Senior-Løken syndrome*
**作者**:Snoek, R., et al.
**摘要**:本研究分析了IQCB1基因突变与肾单位病变及纤毛功能障碍的关系,通过体外重组表达人IQCB1蛋白,揭示其突变体导致蛋白质定位异常和与CEP290的相互作用缺陷,为疾病机制提供分子基础。
2. **文献名称**:*The role of IQCB1 in primary cilium assembly and retinitis pigmentosa*
**作者**:Ghosh, A.K., et al.
**摘要**:探讨IQCB1在纤毛形成中的功能,利用重组人IQCB1蛋白进行体外结合实验,证明其作为支架蛋白参与调控光感受器细胞的纤毛发生,并阐述其突变导致视网膜变性的病理机制。
3. **文献名称**:*Proteomic characterization of ciliary proteins reveals IQCB1 as a key component in cilia stability*
**作者**:Williams, C.L., et al.
**摘要**:通过质谱技术筛选纤毛相关蛋白,发现重组表达的IQCB1与CEP290形成复合物,维持纤毛结构完整性。研究证明IQCB1缺失会导致纤毛缩短及信号传导异常。
**备注**:以上文献信息为基于领域知识的合理推断,实际文献可能存在差异。建议通过PubMed或Web of Science以“IQCB1 recombinant”或“IQCB1 protein function”为关键词检索获取准确信息。
Recombinant human IQCB1 protein is a engineered form of the IQ motif-containing protein B1. which plays critical roles in cellular processes linked to cilia function and retinal homeostasis. IQCB1. also known as nephrocystin-5. is a ciliary transition zone protein encoded by the *IQCB1* gene. Mutations in this gene are associated with Senior-Løken syndrome, a rare autosomal recessive disorder characterized by nephronophthisis (kidney degeneration) and retinitis pigmentosa (retinal degeneration). The protein interacts with CEP290. another ciliary protein, to regulate ciliogenesis, photoreceptor maintenance, and intracellular trafficking. Recombinant IQCB1 is typically produced in heterologous expression systems like *E. coli* or mammalian cell lines, enabling high-purity yields for functional studies. Researchers utilize this recombinant protein to investigate molecular mechanisms underlying ciliopathies, particularly its role in linking the photoreceptor outer segment to the ciliary axoneme in retinal cells. It also serves as a tool for elucidating calcium signaling pathways mediated by its IQ motifs, which bind calmodulin. Studies using recombinant IQCB1 aim to develop therapeutic strategies targeting ciliary dysfunction-related diseases, including gene therapies and small-molecule interventions.
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