| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | UBE3A |
| Uniprot No | Q05086-2 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-852aa |
| 氨基酸序列 | KRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTFLRMDNNAAAIKALE LYKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARIDFKD VTYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHT KEELKSLQAKDEDKDEDEKEKAACSAAAMEEDSEASSSRIGDSSQGDNNL QKLGPDDVSVDIDAIRRVYTRLLSNEKIETAFLNALVYLSPNVECDLTYH NVYSRDPNYLNLFIIVMENRNLHSPEYLEMALPLFCKAMSKLPLAAQGKL IRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRNLVNDDDAIVAASKC LKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNKKGPR VDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENK FSFMTCPFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLR LKVRRDHIIDDALVRLEMIAMENPADLKKQLYVEFEGEQGVDEGGVSKEF FQLVVEEIFNPDIGMFTYDESTKLFWFNPSSFETEGQFTLIGIVLGLAIY NNCILDVHFPMVVYRKLMGKKGTFRDLGDSHPVLYQSLKDLLEYEGNVED DMMITFQISQTDLFGNPMMYDLKENGDKIPITNENRKEFVNLYSDYILNK SVEKQFKAFRRGFHMVTNESPLKYLFRPEEIELLICGSRNLDFQALEETT EYDGGYTRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLGKLK MIIAKNGPDTERLPTSHTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGM L |
| 预测分子量 | 100 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UBE3A重组蛋白的参考文献示例，涵盖不同研究方向：
1. **文献名称**: "Production and Functional Characterization of Recombinant UBE3A for Ubiquitination Assays"
**作者**: Smith A, et al.
**摘要**: 该研究报道了在大肠杆菌中高效表达并纯化重组UBE3A蛋白的方法，通过体外泛素化实验验证其酶活性，证实其可作为研究泛素连接酶功能的工具。
2. **文献名称**: "Cryo-EM Structure of UBE3A Reveals Key Autoinhibitory Mechanisms"
**作者**: Lee B, et al.
**摘要**: 利用冷冻电镜解析重组UBE3A蛋白的三维结构，揭示了其自抑制构象及底物结合的关键区域，为天使综合征的致病机制提供结构基础。
3. **文献名称**: "Recombinant UBE3A Protein Delivery Rescues Neuronal Deficits in an Angelman Syndrome Mouse Model"
**作者**: Chen X, et al.
**摘要**: 研究通过脑内递送重组UBE3A蛋白，显著改善天使综合征模型小鼠的突触功能障碍和运动协调缺陷，证明其潜在治疗价值。
4. **文献名称**: "In Vitro Reconstitution of UBE3A-Dependent Ubiquitination Identifies Novel Substrate Recognition Patterns"
**作者**: Müller J, et al.
**摘要**: 结合重组UBE3A与泛素系统组分，建立体外泛素化体系，筛选出多个新底物，揭示UBE3A在神经发育中的广泛调控作用。
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**注**: 上述文献为示例性内容，实际研究中建议通过PubMed或Google Scholar以关键词“UBE3A recombinant protein”检索最新文献。近年研究多聚焦于UBE3A的基因疗法，重组蛋白相关文献可能集中于表达纯化或机制探索方向。
UBE3A, ubiquitin-protein ligase E3A, is a critical enzyme encoded by the *UBE3A* gene, located on chromosome 15q11.2-q13. This protein plays a central role in the ubiquitin-proteasome system, tagging specific substrates with ubiquitin molecules to regulate their degradation or functional modulation. UBE3A is particularly notable for its tissue-specific imprinting; while the paternal allele is typically silenced in neurons, the maternal allele is active. Loss of functional maternal UBE3A causes Angelman syndrome (AS), a severe neurodevelopmental disorder characterized by intellectual disability, motor dysfunction, seizures, and impaired communication. Conversely, UBE3A overexpression has been linked to autism spectrum disorders (ASD), highlighting its dosage-sensitive role in brain development.
Recombinant UBE3A protein is engineered using expression systems (e.g., bacterial, mammalian, or insect cells) to produce purified, functional enzyme for research and therapeutic exploration. Its production enables studies on UBE3A’s enzymatic activity, substrate specificity, and interactions with neurological targets such as ARC (Activity-Regulated Cytoskeleton-associated protein). Researchers leverage recombinant UBE3A to investigate molecular mechanisms underlying AS and ASD, screen potential drugs to restore UBE3A function in AS models, or modulate its activity in overexpression contexts.
Recent advances focus on structure-function analysis, catalytic domain characterization, and gene therapy strategies (e.g., antisense oligonucleotides to unsilence paternal *UBE3A*). Recombinant UBE3A also serves as a tool for developing protein replacement therapies or biomarkers. Challenges include ensuring blood-brain barrier penetration and achieving cell-type-specific targeting. Overall, recombinant UBE3A bridges mechanistic insights into neurodevelopmental disorders and translational efforts to address UBE3A-related pathologies.
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