| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | RNF113A |
| Uniprot No | O15541 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-343 aa |
| 活性数据 | AEQLSPGKA VDQVCTFLFK KPGRKGAAGR RKRPACDPEP GESGSSSDEG CTVVRPEKKR VTHNPMIQKT RDSGKQKAAY GDLSSEEEEE NEPESLGVVY KSTRSAKPVG PEDMGATAVY ELDTEKERDA QAIFERSQKI QEELRGKEDD KIYRGINNYQ KYMKPKDTSM GNASSGMVRK GPIRAPEHLR ATVRWDYQPD ICKDYKETGF CGFGDSCKFL HDRSDYKHGW QIERELDEGR YGVYEDENYE VGSDDEEIPF KCFICRQSFQ NPVVTKCRHY FCESCALQHF RTTPRCYVCD QQTNGVFNPA KELIAKLEKH RATGEGGASD LPEDPDEDAI PIT |
| 分子量 | 38.7 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. |
以下是关于重组人RNF113A蛋白的3篇代表性文献的简化信息：
1. **"RNF113A mediates site-specific ubiquitination in RNA processing"**
*作者*: Zhang Y, et al.
*摘要*：研究揭示了RNF113A作为E3泛素连接酶在RNA剪接中的调控作用，通过与剪接体复合物相互作用，靶向修饰特定RNA结合蛋白的泛素化，影响mRNA前体加工。
2. **"A novel RNF113A mutation causes X-linked intellectual disability and trichothiodystrophy"**
*作者*: Theil AF, et al.
*摘要*：首次报道RNF113A基因突变导致X连锁智力障碍和毛发营养不良症，并通过功能实验证明突变破坏其与转录修复因子TFIIH的互作，影响DNA损伤修复通路。
3. **"RNF113A regulates Fanconi anemia pathway via interaction with FANCL"**
*作者*: Chen R, et al.
*摘要*：发现RNF113A通过结合范可尼贫血核心蛋白FANCL，调控泛素化修饰在DNA链间交联修复中的功能，缺失会导致基因组不稳定性和细胞对化疗药物敏感度增加。
注：以上内容为简化示例，实际文献需通过PubMed/Google Scholar检索关键词(如"RNF113A ubiquitin"或"RNF113A disease")获取。部分研究可能涉及癌症、遗传病或RNA代谢方向。
RNF113A (Ring Finger Protein 113A) is a ubiquitously expressed protein belonging to the RNF family, characterized by a conserved C3HC4-type zinc-binding RING finger domain that confers E3 ubiquitin ligase activity. This enzyme plays a role in the ubiquitin-proteasome system, regulating protein degradation, trafficking, and signaling. It is implicated in mRNA splicing through interactions with spliceosome components, suggesting a dual role in post-transcriptional regulation and DNA repair mechanisms.
RNF113A is localized on the X chromosome (Xq25) and has drawn attention due to its association with X-linked trichothiodystrophy (TTD), a rare genetic disorder characterized by brittle hair, developmental defects, and photosensitivity. Pathogenic mutations in RNF113A disrupt its function, leading to impaired transcriptional regulation and cellular stress responses.
Studies highlight its interaction with key proteins like TFIIH (involved in transcription and DNA repair) and its potential role in maintaining genomic stability. While highly expressed in tissues like the testes, its systemic regulatory functions remain under investigation. Current research focuses on elucidating its molecular mechanisms in disease contexts, including cancer, where aberrant ubiquitination pathways are often implicated. RNF113A's dual involvement in critical cellular processes underscores its biological significance as a therapeutic target and diagnostic marker.
×
