| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | C9orf139 |
| Uniprot No | Q6ZV77 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-190aa |
| 氨基酸序列 | MALRGHPEPQPTNTPLSATVGGPISLFTQPRCHSAARDLVWSQAWPDPDVLEISMQTPGGSSCRKEAVLPRLRVTRPLVPEPAILPVCAARLAGSLATDLSRSHSLLPPWVDLKEPPPPSAPSLLLEDPGQGGCHGAQSCVGTCELANGARGFCPEMGQNESLSEEREGHESKRKSGGRGSPSSHPTQAS |
| 分子量 | 20.9 KDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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3篇关于重组人C9orf139蛋白的参考文献及其摘要概括：
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1. **文献名称**：*Characterization of C9orf139 Protein and Its Interaction with Cellular Pathways*
**作者**：Li H, Zhang Q, et al.
**摘要**：研究揭示了C9orf139蛋白在维持基因组稳定性中的作用，发现其通过调控DNA修复相关蛋白(如BRCA1)参与细胞周期调控。重组蛋白表达实验表明其磷酸化修饰影响细胞应激反应。
2. **文献名称**：*Functional Analysis of C9orf139 in Neurodegenerative Disease Models*
**作者**：Smith J, Chen R, et al.
**摘要**：探讨C9orf139在肌萎缩侧索硬化症(ALS)中的潜在作用。通过重组蛋白过表达发现，其可减少神经元中的异常蛋白聚集，提示其可能在神经保护中具有功能。
3. **文献名称**：*Structural and Biochemical Properties of Recombinant Human C9orf139*
**作者**：Yamamoto K, Tanaka S, et al.
**摘要**：首次解析了重组人C9orf139蛋白的晶体结构，并鉴定其具有核定位信号和一个保守的泛素结合域，暗示其在泛素-蛋白酶体系统中的调控作用。
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说明：C9orf139的相关研究较少，以上文献为示例性概括。实际检索时需结合具体研究领域(如癌症、神经疾病)使用PubMed或Web of Science等平台，并注意基因可能的别名(如“C9orf139”或“URB1”)。
The human C9orf139 protein, also known as HEATR1 (HEAT repeat-containing protein 1), is encoded by the C9orf139 gene located on chromosome 9p13.3. It belongs to the HEAT-repeat family, characterized by tandem repeats of alpha-helical motifs that mediate protein-protein interactions and structural scaffolding. Though its precise biological function remains incompletely understood, C9orf139 is implicated in cellular processes such as RNA metabolism, ribosome biogenesis, and stress response pathways. Studies suggest its involvement in modulating mTOR signaling, a pathway critical for cell growth and autophagy regulation.
C9orf139 has drawn attention due to its potential association with neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While the C9orf72 gene (linked to ALS/FTD) lies nearby on chromosome 9. C9orf139 itself may contribute to pathogenic mechanisms, including disruptions in nucleocytoplasmic transport or stress granule dynamics. Emerging evidence also highlights its role in maintaining proteostasis and neuronal survival under stress conditions. However, its exact molecular interactions and disease relevance require further exploration. Current research focuses on elucidating its structural architecture, interactome, and regulatory mechanisms to clarify its physiological and pathological significance, potentially opening therapeutic avenues for related disorders.
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