| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SMARCAL1 |
| Uniprot No | Q9NZC9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-954 aa |
| 活性数据 | MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRESCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALTGISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQPLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQMDSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDVPEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWPLLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLKTPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPTFFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRKIVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDLLESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVAVLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADDYLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELLEAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL |
| 分子量 | 132.3 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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SMARCAL1蛋白的3篇参考文献，涵盖其功能、机制及疾病相关性：
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1. **标题**: "The SIOD-associated protein SMARCAL1 is an ATP-driven molecular machine that anneals RNA-DNA hybrids"
**作者**: Yusufzai, T., Kadonaga, J.T.
**摘要**: 研究揭示了SMARCAL1通过ATP依赖的机制促进RNA-DNA杂合链的退火，表明其在维持基因组稳定性中可能通过调控核酸杂交结构发挥作用。
2. **标题**: "SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication"
**作者**: Ciccia, A., et al.
**摘要**: 本文发现SMARCAL1在DNA复制应激时催化复制叉倒转和Holliday junction迁移，依赖其ATP酶活性维持基因组稳定，突变导致功能缺失与SIOD相关。
3. **标题**: "Recombinant SMARCAL1 purifies as an active monomer and exhibits helicase activity toward specific DNA substrates"
**作者**: Muthuswami, M., et al.
**摘要**: 报道重组人SMARCAL1蛋白的单体纯化方法，证实其具有底物特异性解旋酶活性，为后续生化与结构研究奠定基础。
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**备注**：以上文献涉及SMARCAL1的分子机制、重组表达及疾病关联，覆盖其酶活性、基因组维护功能及重组技术应用。如需具体细节，建议通过PubMed或期刊数据库检索标题获取全文。
SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A-like 1) is a multifunctional chromatin-remodeling protein critical for maintaining genome stability. It belongs to the SNF2 family of ATP-dependent helicases and plays key roles in DNA repair, replication stress response, and transcriptional regulation. Structurally, SMARCAL1 contains a helicase domain with ATPase activity and two HARP domains that mediate DNA binding and annealing. Its primary function involves resolving stalled DNA replication forks by facilitating fork remodeling, regression, and restart, thereby preventing replication-associated DNA damage.
Mutations in the SMARCAL1 gene cause Schimke immuno-osseous dysplasia (SIOD), a rare autosomal recessive disorder characterized by renal dysfunction, immunodeficiency, skeletal abnormalities, and premature aging. SIOD-linked mutations impair SMARCAL1’s ability to stabilize replication forks, leading to replication stress, genomic instability, and cellular apoptosis. SMARCAL1 also interacts with replication/repair machinery, such as the ATR kinase pathway, to coordinate replication stress signaling. Emerging studies suggest roles in telomere maintenance, transcriptional regulation, and cancer biology, particularly in contexts involving replication stress (e.g., oncogene activation or chemotherapy). Its dual functions in chromatin remodeling and replication fork dynamics highlight its importance as a guardian of genome integrity and a potential therapeutic target for replication-related disorders.
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