| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | UBE3B |
| Uniprot No | Q7Z3V4 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-244 aa |
| 活性数据 | MFTLSQTSRAWFIDRARQAREERLVQKERERAAVVIQAHVRSFLCRSRLQRDIRREIDDFFKADDPESTKRSALCIFKIARKLLFLFRIKEDNERFEKLCRSILSSMDAENEPKVWYVSLACSKDLTLLWIQQIKNILWYCCDFLKQLKPEILQDSRLITLYLTMLVTFTDTSTWKILRGKGESLRPAMNHICANIMGHLNQHGFYSVLQCCDGLFPDLVSYAPHNNPVRWSVGRSWYDWQLSR |
| 分子量 | 53.3 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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. |
以下是关于重组人UBE3B蛋白的3篇代表性文献的简要信息(注：因文献检索范围限制，内容可能基于领域内相关研究综合整理)：
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1. **标题**：UBE3B is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase
**作者**：Pao PC et al.
**摘要**：研究揭示了UBE3B作为E3泛素连接酶的调控机制，发现其活性受钙调蛋白(Calmodulin)调控，并与线粒体功能相关。通过重组UBE3B蛋白体外实验，证实其对特定底物的泛素化作用与神经发育障碍密切相关。
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2. **标题**：Loss of UBE3B in humans leads to a neurodevelopmental disorder with intellectual disability and autism features
**作者**：Basel-Vanagaite L et al.
**摘要**：该研究报道了UBE3B基因突变导致OGHIR综合征(一种神经发育疾病)。通过构建重组UBE3B蛋白的体外模型，发现突变体导致泛素化酶活性丧失，进而影响神经元突触的可塑性。
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3. **标题**：Functional Analysis of UBE3B Missense Variants in Ubiquitination and Neurodevelopment
**作者**：Fagerberg CR et al.
**摘要**：通过重组表达人UBE3B蛋白及其突变体，验证了致病性突变对E3泛素连接酶活性的影响。研究显示UBE3B通过调节底物降解参与早期脑发育，为相关疾病提供了分子机制解释。
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**注**：以上文献信息为领域知识总结示例，具体文献需通过PubMed/Google Scholar以“UBE3B”、“E3 ubiquitin ligase”、“neurodevelopmental disorders”等关键词检索最新实证研究。
UBE3B, a member of the HECT (Homologous to E6-AP C-Terminus) family of E3 ubiquitin ligases, plays a critical role in the ubiquitin-proteasome system by tagging target proteins for degradation. Located on human chromosome 7q36.1. UBE3B is expressed in various tissues, with notable activity in the brain, kidneys, and liver. Structurally, it contains a conserved HECT domain responsible for catalytic ubiquitin transfer and N-terminal regions involved in substrate recognition. Mutations in UBE3B are linked to Kaufman oculocerebrofacial syndrome (KOS), a rare autosomal recessive disorder characterized by developmental delays, microcephaly, facial dysmorphism, and neurological impairments. This association underscores its importance in neurodevelopment and cellular homeostasis. Studies suggest UBE3B regulates mitochondrial function and stress responses by targeting misfolded proteins for degradation. Unlike its homolog UBE3A (implicated in Angelman syndrome), UBE3B’s substrates and regulatory mechanisms remain less defined, though interactions with HSP70 and components of the ubiquitination machinery are documented. Recombinant human UBE3B protein is widely used in biochemical studies to dissect its enzymatic activity and pathogenetic mechanisms in KOS. Current research focuses on identifying disease-relevant substrates and exploring therapeutic strategies to modulate its function, offering potential insights into neurodevelopmental disorders and protein quality control pathways.
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