| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MCOLN1 |
| Uniprot No | Q9GZU1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-580aa |
| 氨基酸序列 | MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN |
| 预测分子量 | 66.5 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MCOLN1重组蛋白的3篇参考文献，包含文献名称、作者及摘要内容概括：
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1. **文献名称**：*TRP-ML1 Is a Lysosomal Monovalent Cation Channel that Undergoes Proteolytic Cleavage*
**作者**：Dong, X.P., et al.
**摘要**：该研究通过重组表达MCOLN1(TRPML1)蛋白，发现其在溶酶体膜上形成单价阳离子通道。利用HEK293细胞表达系统结合膜片钳技术，揭示了TRPML1的离子选择性和调控机制，并证明其蛋白水解加工对通道功能的关键作用。
2. **文献名称**：*Small Molecule Activators of TRPML3*
**作者**：Grimm, C., et al.
**摘要**：研究团队利用重组TRPML1蛋白进行高通量药物筛选，鉴定出特异性小分子激动剂ML-SA1.实验表明，该分子通过激活TRPML1通道促进溶酶体钙释放，为溶酶体贮积症的治疗提供了潜在化合物。
3. **文献名称**：*Structure of the Human TRPML1 Ion Channel Extracellular Domain*
**作者**：Schmiege, P., et al.
**摘要**：通过昆虫细胞系统重组表达人源TRPML1蛋白的胞外域，结合冷冻电镜技术解析其高分辨率结构，揭示了与粘脂贮积症相关突变位点的空间分布，为疾病机制及药物设计提供了结构基础。
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以上研究均利用重组MCOLN1蛋白，聚焦于其结构、功能及治疗应用，涉及基因工程表达、电生理学及结构生物学方法。
MCOLN1. also known as mucolipin-1 or TRPML1. is a lysosomal transmembrane protein encoded by the *MCOLN1* gene in humans. It belongs to the transient receptor potential (TRP) ion channel family and functions as a non-selective cation channel, primarily permeable to Ca²⁺, Fe²⁺, and other metal ions. MCOLN1 plays a critical role in lysosomal homeostasis, regulating membrane trafficking, autophagy, and lysosomal storage. Mutations in *MCOLN1* cause mucolipidosis type IV (MLIV), a rare lysosomal storage disorder characterized by neurodevelopmental delays, motor dysfunction, and retinal degeneration.
Recombinant MCOLN1 protein is engineered to study its structure-function relationships, channel activity, and disease mechanisms. The protein typically includes six transmembrane domains, with a conserved ion pore region and cytosolic N- and C-termini involved in regulatory interactions. Recombinant versions often incorporate tags (e.g., His-tag, GFP) for purification or tracking, expressed in systems like HEK293 or insect cells to ensure proper post-translational modifications.
Research on recombinant MCOLN1 has advanced understanding of lysosomal Ca²⁺ signaling and its role in cellular clearance pathways. It is used to screen small-molecule activators (e.g., ML-SA1) or inhibitors, offering therapeutic potential for MLIV and other lysosome-related disorders. Challenges remain in maintaining its native conformation in vitro, as misfolding may alter channel properties. Recent cryo-EM studies of recombinant TRPML1 have revealed structural insights into pH-dependent gating and disease-causing mutations. Current applications extend to gene therapy validation and biomarker discovery, emphasizing its importance in lysosomal biology and translational medicine.
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