| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ATP8B1 |
| Uniprot No | O43520 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-1251aa |
| 氨基酸序列 | MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS |
| 分子量 | 143 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 冻干粉 |
| 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. |
以下是关于重组人磷脂转运ATP酶IC(ATP8B1)的参考文献及摘要概括：
1. **"Mutations in the ATP8B1 gene cause progressive familial intrahepatic cholestasis"**
- **作者**：Bull, L.N. 等
- **摘要**：首次发现ATP8B1基因突变与进行性家族性肝内胆汁淤积症(PFIC1)的关联，揭示了该酶缺陷导致胆汁酸转运障碍的分子机制。
2. **"Structural basis of substrate-independent phosphorylation in a P4-ATPase"**
- **作者**：Coleman, J.A. 等
- **摘要**：通过冷冻电镜解析ATP8B1的三维结构，阐明了其作为P4-ATP酶在磷脂翻转过程中的底物识别与能量偶联机制。
3. **"ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes"**
- **作者**：Pawlikowska, M. 等
- **摘要**：利用小鼠模型证明ATP8B1缺陷导致肝细胞胆管膜磷脂不对称性破坏，进而引发胆汁淤积和肝损伤。
4. **"Role of ATP8B1 in bile salt homeostasis: Insights from molecular and clinical studies"**
- **作者**：Ujhazy, P. 等
- **摘要**：综述ATP8B1在胆盐代谢中的作用，强调其基因变异如何影响胆汁分泌稳态及潜在治疗策略。
以上研究从基因突变、结构机制、病理模型及临床关联等角度解析ATP8B1的功能与疾病相关性。
ATP8B1. a member of the P4-type ATPase family, is a transmembrane protein critical for maintaining phospholipid asymmetry in cell membranes. It functions as a phospholipid translocase, utilizing ATP hydrolysis to transport phosphatidylserine and phosphatidylethanolamine from the outer to inner leaflet of lipid bilayers. This activity is essential for membrane stability, vesicle trafficking, and bile formation.
Mutations in the *ATP8B1* gene are linked to severe liver disorders, notably progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC1). These conditions disrupt bile acid secretion, leading to hepatocyte damage, cholestasis, and progressive liver fibrosis. Studies suggest ATP8B1 dysfunction impairs bile canalicular membrane integrity, exacerbating bile acid toxicity.
Recombinant ATP8B1. produced via heterologous expression systems (e.g., mammalian or insect cells), enables structural and functional analyses. Its study clarifies molecular mechanisms of phospholipid translocation, substrate specificity, and regulation by accessory proteins like CDC50. Current research explores therapeutic strategies, including chaperone drugs or gene therapy, to restore ATP8B1 activity in genetic disorders. Additionally, its role in lipid metabolism links it to broader pathologies, such as metabolic syndrome and neurodegenerative diseases, highlighting its biomedical relevance.
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