纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | RAI1 |
Uniprot No | O77932 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 1-396 aa |
活性数据 | MDPRGTKRGA EKTEVAEPRN KLPRPAPSLP TDPALYSGPF PFYRRPSELG CFSLDAQRQY HGDARALRYY SPPPTNGPGP NFDLRDGYPD RYQPRDEEVQ ERLDHLLCWL LEHRGRLEGG PGWLAEAIVT WRGHLTKLLT TPYERQEGWQ LAASRFQGTL YLSEVETPNA RAQRLARPPL LRELMYMGYK FEQYMCADKP GSSPDPSGEV NTNVAFCSVL RSRLGSHPLL FSGEVDCTDP QAPSTQPPTC YVELKTSKEM HSPGQWRSFY RHKLLKWWAQ SFLPGVPNVV AGFRNPDGFV SSLKTFPTMK MFEYVRNDRD GWNPSVCMNF CAAFLSFAQS TVVQDDPRLV HLFSWEPGGP VTVSVHQDAP YAFLPIWYVE AMTQDLPSPP KTPSPK |
分子量 | 44.9 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RAI1蛋白的3篇代表性文献简述:
1. **文献名称**: *Molecular analysis of the RAI1 gene in Smith-Magenis syndrome patients*
**作者**: Slager et al. (2003)
**摘要**: 研究利用重组RAI1蛋白表达系统,揭示了其功能缺失与Smith-Magenis综合征的关联,通过体外实验表明RAI1在调控昼夜节律相关基因中的关键作用。
2. **文献名称**: *RAI1 regulates transcriptional networks and chromatin accessibility in cortical neurons*
**作者**: Huang et al. (2016)
**摘要**: 通过纯化重组RAI1蛋白进行ChIP-seq分析,发现其作为转录调控因子影响神经元发育相关基因的染色质开放性和表观遗传修饰,为神经发育障碍机制提供依据。
3. **文献名称**: *Functional characterization of RAI1 missense mutations*
**作者**: Bi et al. (2018)
**摘要**: 利用重组RAI1突变体蛋白,结合报告基因实验发现致病突变导致DNA结合能力下降,提示结构域功能受损是疾病发生的分子基础。
注:以上内容为基于典型研究的示例性描述,实际文献需根据具体数据库检索结果调整。建议通过PubMed或Web of Science以“recombinant RAI1 protein”为关键词获取最新研究。
**Recombinant Human RAI1 Protein: Background**
The retinoic acid-induced 1 (RAI1) protein is a transcription regulator encoded by the *RAI1* gene located on chromosome 17p11.2. RAI1 plays critical roles in neurodevelopment, circadian rhythm regulation, and metabolic processes. Structurally, it contains several functional domains, including zinc finger motifs and nuclear localization signals, enabling DNA binding and transcriptional modulation. RAI1 is highly expressed in the brain, particularly in neurons, where it influences synaptic plasticity and neural connectivity.
Mutations or haploinsufficiency of *RAI1* are associated with Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by intellectual disability, behavioral abnormalities, and sleep disturbances. Conversely, duplications of 17p11.2 (linked to *RAI1* overexpression) are linked to Potocki-Lupski syndrome (PTLS), which involves autism-like features and developmental delays. These conditions highlight RAI1's dosage-sensitive role in brain function.
Recombinant RAI1 protein is engineered for research to study its molecular interactions, regulatory networks, and pathogenic mechanisms. Produced via expression systems (e.g., *E. coli* or mammalian cells), it retains post-translational modifications critical for activity. Studies utilizing recombinant RAI1 aim to uncover therapeutic targets for SMS, PTLS, and other disorders linked to transcriptional dysregulation. Its application spans *in vitro* assays, animal models, and drug screening, offering insights into restoring RAI1-dependent pathways in disease contexts.
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