| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CCDC114 |
| Uniprot No | Q96M63 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-670aa |
| 氨基酸序列 | MEGERRAYSK EVHQRINKQL EEIRRLEEVR GDLQVQISAA QNQVKRLRDS QRLENMDRLL KGRAQVQAEI EELQEQTRAL DKQIQEWETR IFTHSKNVRS PGFILDQKVK IRRRIRILEN QLDRVTCHFD NQLVRNAALR EELDLLRIDR NRYLNVDRKL KKEIHHLHHL VSTLILSSTS AYAVREEAKA KMGLLRERAE KEEAQSEMEA QVLQRQILHL EQLHHFLKLK NNDRQPDPDV LEKREKQAGE VAEGVWKTSQ ERLVLCYEDA LNKLSQLMGE SDPDLLVQKY LEIEERNFAE FNFINEQNLE LEHVQEEIKE MQEALVSARA SKDDQHLLQE QQQKVLQQRM DKVHSEAERL EARFQDVRGQ LEKLKADIQL LFTKAHCDSS MIDDLLGVKT SMGDRDMGLF LSLIEKRLVE LLTVQAFLHA QSFTSLADAA LLVLGQSLED LPKKMAPLQP PDTLEDPPGF EASDDYPMSR EELLSQVEKL VELQEQAEAQ RQKDLAAAAA KLDGTLSVDL ASTQRAGSST VLVPTRHPHA IPGSILSHKT SRDRGSLGHV TFGGLSSSTG HLPSHITHGD PNTGHVTFGS TSASSGGHVT FRPVSASSYL GSTGYVGSSR GGENTEGGVE SGGTASDSSG GLGSSRDHVS STGPASSTGP GSSTSKDSRG |
| 分子量 | 75 KDa |
| 蛋白标签 | His tag N-Terminus |
| 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CCDC114的3篇代表性文献概述(虚构示例，仅供参考)：
---
1. **标题**: _CCDC114 mutations cause primary ciliary dyskinesia by disrupting axonemal microtubule organization_
**作者**: Hjeij R, et al.
**摘要**: 研究发现CCDC114基因突变导致纤毛轴丝微管排列异常，引发原发性纤毛运动障碍(PCD)。通过患者样本分析，发现CCDC114在纤毛组装中与动力蛋白复合物相互作用，是其功能核心组分。
2. **标题**: _Structural insights into CCDC114-mediated ciliogenesis through coiled-coil domain interactions_
**作者**: Smith T, Inaba K.
**摘要**: 利用冷冻电镜技术解析CCDC114蛋白的卷曲螺旋结构域，揭示其通过形成二聚体与微管结合，调控纤毛发生及信号传导的分子机制。
3. **标题**: _CCDC114 deficiency impairs intraflagellar transport and Hedgehog signaling in vertebrates_
**作者**: Lee L, Takeda S.
**摘要**: 模式生物实验表明，CCDC114缺失通过阻碍鞭毛内运输(IFT)影响Hedgehog信号通路，导致胚胎发育异常，提示其在跨细胞运输中的关键作用。
---
(注：以上文献为模拟生成，实际研究中请通过PubMed或Google Scholar检索真实文献。)
Coiled-coil domain-containing protein 114 (CCDC114) is a structurally conserved eukaryotic protein implicated in cilia-related functions. It is encoded by the *CCDC114* gene located on human chromosome 19q13.32. The protein features an N-terminal coiled-coil domain, a hallmark of proteins involved in molecular interaction networks, and a predicted C-terminal region potentially facilitating microtubule-associated processes. CCDC114 is primarily expressed in ciliated tissues, including the respiratory epithelium, brain, and reproductive organs.
Functionally, CCDC114 plays a critical role in ciliary axoneme assembly and motility. Studies link it to primary ciliary dyskinesia (PCD), a genetic disorder characterized by impaired mucociliary clearance, recurrent respiratory infections, and situs abnormalities. Mutations in *CCDC114* disrupt outer dynein arm (ODA) docking onto ciliary microtubules, compromising ciliary beat coordination. Animal models, such as *Ccdc114*\-knockout mice, exhibit hydrocephalus and laterality defects, mirroring human PCD phenotypes.
Despite progress, questions remain regarding its precise molecular interactions, including potential partnerships with dynein or microtubule transport systems. Research continues to explore its diagnostic relevance in PCD and broader roles in ciliopathies.
×
