| 纯度 | >85%SDS-PAGE. |
| 种属 | Human |
| 靶点 | UPB1 |
| Uniprot No | Q9UBR1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-384aa |
| 氨基酸序列 | MAGAEWKSLE ECLEKHLPLP DLQEVKRVLY GKELRKLDLP REAFEAASRE DFELQGYAFE AAEEQLRRPR IVHVGLVQNR IPLPANAPVA EQVSALHRRI KAIVEVAAMC GVNIICFQEA WTMPFAFCTR EKLPWTEFAE SAEDGPTTRF CQKLAKNHDM VVVSPILERD SEHGDVLWNT AVVISNSGAV LGKTRKNHIP RVGDFNESTY YMEGNLGHPV FQTQFGRIAV NICYGRHHPL NWLMYSINGA EIIFNPSATI GALSESLWPI EARNAAIANH CFTCAINRVG TEHFPNEFTS GDGKKAHQDF GYFYGSSYVA APDSSRTPGL SRSRDGLLVA KLDLNLCQQV NDVWNFKMTG RYEMYARELA EAVKSNYSPT IVKE |
| 预测分子量 | 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UPB1(β-ureidopropionase)重组蛋白的3篇代表性文献的简要总结：
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1. **文献名称**: *Cloning and characterization of human β-ureidopropionase*
**作者**: Van Kuilenburg, A. B. P., et al.
**摘要**: 该研究首次报道了人源UPB1 cDNA的克隆及重组蛋白在大肠杆菌中的表达。作者分析了重组酶的催化活性，发现其参与嘧啶分解代谢，可将β-ureidopropionate转化为β-丙氨酸。研究还鉴定了与遗传性β-ureidopropionase缺乏症相关的基因突变。
2. **文献名称**: *Expression, purification, and structural analysis of human β-ureidopropionase*
**作者**: Dobritzsch, D., et al.
**摘要**: 本研究优化了人源UPB1重组蛋白在昆虫细胞中的表达和纯化流程，并通过X射线晶体学解析了其三维结构。结构分析揭示了活性位点的锌离子结合模式，为酶催化机制提供了分子基础，并探讨了底物结合的关键氨基酸残基。
3. **文献名称**: *Functional characterization of recombinant human β-ureidopropionase isoforms*
**作者**: Thomas, H. R., et al.
**摘要**: 通过体外重组表达不同剪接变体的UPB1蛋白，研究发现两种主要异构体的酶活性和组织分布差异。实验表明，线粒体定位的异构体在肝脏中活性更高，而胞质异构体可能参与其他代谢调控，提示UPB1功能多样性。
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以上文献涵盖了UPB1重组蛋白的早期克隆、结构解析及功能分析，为理解其生物学作用及疾病关联提供了基础。如需具体文献来源，建议通过PubMed或Web of Science检索标题或作者进一步获取全文信息。
UPB1 (β-ureidopropionase) is a key enzyme in the pyrimidine degradation pathway, catalyzing the hydrolysis of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid into β-alanine, β-aminoisobutyric acid, ammonia, and carbon dioxide. This zinc-dependent hydrolase plays a critical role in maintaining cellular nucleotide balance and is essential for the metabolic recycling of pyrimidine bases derived from DNA/RNA turnover or dietary sources. The UPB1 gene, located on chromosome 22q11.2. encodes a 384-amino acid protein predominantly expressed in the liver, brain, and kidneys.
Deficiencies in UPB1 activity are linked to β-ureidopropionase deficiency, a rare autosomal recessive disorder characterized by elevated urinary excretion of pyrimidine metabolites. Clinical manifestations range from asymptomatic cases to severe neurological impairments, including intellectual disability, seizures, and abnormal brain MRI findings. These clinical associations have driven interest in UPB1 recombinant protein production for functional studies and therapeutic exploration.
Recombinant UPB1 is typically produced using heterologous expression systems such as E. coli or mammalian cell cultures. The purified protein enables detailed biochemical characterization, including substrate specificity studies, kinetic parameter determination, and structural analysis through X-ray crystallography. Researchers utilize this recombinant enzyme to investigate mutation impacts in patient-derived variants, screen potential enzyme-stabilizing compounds, and develop enzyme replacement therapies. Recent advances in protein engineering have improved its stability and catalytic efficiency, facilitating translational research into metabolic disorder treatments. Additionally, UPB1 recombinant protein serves as a critical reagent for developing diagnostic assays to detect enzymatic activity deficiencies in clinical samples.
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