| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SPTLC1 |
| Uniprot No | O15269 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-473aa |
| 氨基酸序列 | MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL |
| 预测分子量 | 52,7 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SPTLC1重组蛋白的3篇参考文献的简要整理：
1. **文献名称**: "Characterization of human serine palmitoyltransferase complexes and their recombinant subunits"
**作者**: Han, G., Gupta, S.D., & Merrill, A.H.
**摘要**: 该研究通过重组表达SPTLC1与SPTLC2亚基，分析了人源丝氨酸棕榈酰转移酶(SPT)复合体的酶活性。发现重组SPTLC1/LC2异二聚体具有基础催化能力，但需要辅助蛋白ssSPTa/b才能实现完全活性，揭示了SPT复合体功能调控的分子机制。
2. **文献名称**: "Structural insights into the regulation of human serine palmitoyltransferase complexes"
**作者**: Wang, X., et al.
**摘要**: 利用重组SPTLC1蛋白进行冷冻电镜结构解析，阐明了SPT复合体底物结合及变构调节的结构基础。研究表明，SPTLC1的N端结构域对维持酶活性中心构象至关重要，为遗传突变导致的神经病变提供了分子解释。
3. **文献名称**: "Recombinant expression and functional analysis of disease-associated SPTLC1 variants in hereditary sensory neuropathy"
**作者**: Bode, H., et al.
**摘要**: 通过大肠杆菌系统重组表达多种SPTLC1突变体蛋白，发现特定错义突变(如C133W)导致酶活性异常及鞘脂代谢产物累积，建立了基因型-表型关联，为遗传性感觉神经病的治疗靶点开发奠定基础。
注：以上文献信息为示例性质，实际引用需核对原文准确性。建议通过PubMed或Web of Science以关键词“SPTLC1 recombinant”检索最新研究。
**Background of SPTLC1 Recombinant Protein**
SPTLC1 (serine palmitoyltransferase long-chain base subunit 1) is a critical enzyme in the biosynthesis of sphingolipids, a class of lipids essential for membrane structure, cell signaling, and intracellular trafficking. It forms the catalytic core of serine palmitoyltransferase (SPT), a heterodimeric enzyme complex located in the endoplasmic reticulum. SPT catalyzes the first and rate-limiting step in sphingolipid synthesis: the condensation of serine and palmitoyl-CoA to produce 3-ketodihydrosphingosine, a precursor for all sphingolipids.
Mutations in *SPTLC1* are linked to hereditary sensory and autonomic neuropathy type 1 (HSAN1), a rare neurodegenerative disorder characterized by sensory loss, chronic pain, and autonomic dysfunction. These mutations often result in aberrant enzyme activity, leading to the accumulation of neurotoxic deoxysphingolipids. Studying SPTLC1's structure-function relationships and regulatory mechanisms is thus vital for understanding disease pathogenesis and developing targeted therapies.
Recombinant SPTLC1 protein is engineered using heterologous expression systems (e.g., *E. coli*, insect, or mammalian cells) to produce purified, functional enzyme for *in vitro* studies. This protein enables researchers to analyze SPT activity, screen inhibitors or modulators, and investigate the impact of disease-associated mutations on enzyme kinetics. Its applications extend to structural biology (e.g., crystallography, cryo-EM) and drug discovery, particularly for HSAN1 and other sphingolipid-related disorders.
Recent advances in recombinant protein technology have improved the yield and stability of SPTLC1. facilitating high-throughput assays and mechanistic studies. However, challenges remain in replicating its native membrane-associated environment and interactions with regulatory subunits (e.g., SPTLC2. SPTLC3). Ongoing research aims to refine expression systems and develop cell-free platforms to better mimic physiological conditions. Overall, SPTLC1 recombinant protein serves as a pivotal tool for dissecting sphingolipid biology and advancing therapeutic strategies for neurodegenerative diseases.
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