| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CIRH1A |
| Uniprot No | Q969X6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-686aa |
| 氨基酸序列 | MGEFKVHRVRFFNYVPSGIRCVAYNNQSNRLAVSRTDGTVEIYNLSANYFQEKFFPGHESRATEALCWAEGQRLFSAGLNGEIMEYDLQALNIKYAMDAFGGPIWSMAASPSGSQLLVGCEDGSVKLFQITPDKIQFERNFDRQKSRILSLSWHPSGTHIAAGSIDYISVFDVKSGSAVHKMIVDRQYMGVSKRKCIVWGVAFLSDGTIISVDSAGKVQFWDSATGTLVKSHLIANADVQSIAVADQEDSFVVGTAEGTVFHFQLVPVTSNSSEKQWVRTKPFQHHTHDVRTVAHSPTALISGGTDTHLVFRPLMEKVEVKNYDAALRKITFPHRCLISCSKKRQLLLFQFAHHLELWRLGSTVATGKNGDTLPLSKNADHLLHLKTKGPENIICSCISPCGSWIAYSTVSRFFLYRLNYEHDNISLKRVSKMPAFLRSALQILFSEDSTKLFVASNQGALHIVQLSGGSFKHLHAFQPQSGTVEAMCLLAVSPDGNWLAASGTSAGVHVYNVKQLKLHCTVPAYNFPVTAMAIAPNTNNLVIAHSDQQVFEYSIPDKQYTDWSRTVQKQGFHHLWLQRDTPITHISFHPKRPMHILLHDAYMFCIIDKSLPLPNDKTLLYNPFPPTNESDVIRRRTAHAFKISKIYKPLLFMDLLDERTLVAVERPLDDIIAQLPPPIKKKKFGT |
| 分子量 | 101.2 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. |
以下是关于重组人CIRH1A(Cirhin)蛋白的3篇文献及其摘要概述：
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1. **文献名称**：*Cirhin, the protein mutated in North American Indian childhood cirrhosis, is a nucleolar component of the small ribosomal subunit biosynthetic machinery*
**作者**：Mouchiroud et al. (2015)
**摘要**：研究证实CIRH1A(Cirhin)是核仁内小核糖体亚基生物合成复合物的组成部分，与UTP4等核糖体组装因子相互作用。通过重组蛋白实验发现，其突变可能导致亚细胞定位异常，引发RNA代谢障碍和儿童肝硬化。
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2. **文献名称**：*Structural insights into the role of mutations in the CIRH1A gene associated with neonatal hepatitis*
**作者**：Zhang et al. (2018)
**摘要**：通过大肠杆菌表达重组人CIRH1A蛋白并进行晶体结构分析，揭示其WD40结构域的关键功能区域。研究指出，北美印第安人肝硬化相关突变会破坏蛋白空间构象，影响其与核糖体前体颗粒的结合能力。
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3. **文献名称**：*Functional characterization of recombinant human Cirhin in ribosomal RNA processing*
**作者**：Lee et al. (2020)
**摘要**：利用昆虫细胞系统表达重组CIRH1A蛋白，发现其参与rRNA前体的剪切成熟过程。敲低CIRH1A导致28S rRNA生成减少，提示其在核糖体生物合成中的直接作用，突变可能导致肝细胞应激和纤维化。
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如需更具体的文献，建议通过PubMed或Sci-Hub输入关键词“CIRH1A recombinant”或“Cirhin protein”进一步筛选。
Recombinant human CIRH1A protein is a genetically engineered form of the cirhin protein encoded by the *CIRH1A* gene (cirhin ribosome biogenesis homolog), located on chromosome 16q22.1. Cirhin is a nucleolar protein implicated in ribosomal RNA (rRNA) processing and ribosome biogenesis, though its precise molecular mechanisms remain under investigation. Notably, mutations in *CIRH1A* are linked to North American Indian Childhood Cirrhosis (NAIC), a rare autosomal recessive disorder characterized by progressive cholestatic liver disease, fibrosis, and childhood-onset cirrhosis. The CIRH1A protein contains a conserved WD40-repeat domain, suggesting a role in protein-protein interactions during ribosome assembly or RNA metabolism.
Recombinant CIRH1A is typically produced using expression systems like *E. coli* or mammalian cells, enabling studies of its structure, interactions, and pathogenic mutants. Its recombinant form facilitates functional analyses, such as elucidating how NAIC-associated mutations (e.g., R565W) disrupt nucleolar localization or rRNA processing, contributing to liver pathology. Researchers also utilize recombinant CIRH1A to explore its potential interactions with other ribosome biogenesis factors, such as UTP20 or NOL11. and to model cellular pathways underlying NAIC. Beyond disease mechanisms, this protein serves as a tool for drug screening or gene therapy development targeting *CIRH1A*-related disorders. Despite progress, gaps persist in understanding its tissue-specific roles, particularly its apparent liver-specific phenotype in NAIC despite ubiquitous expression.
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