| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ATP6V1B1 |
| Uniprot No | P15313 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-513aa |
| 氨基酸序列 | MAMEIDSRPG GLPGSSCNLG AAREHMQAVT RNYITHPRVT YRTVCSVNGP LVVLDRVKFA QYAEIVHFTL PDGTQRSGQV LEVAGTKAIV QVFEGTSGID ARKTTCEFTG DILRTPVSED MLGRVFNGSG KPIDKGPVVM AEDFLDINGQ PINPHSRIYP EEMIQTGISP IDVMNSIARG QKIPIFSAAG LPHNEIAAQI CRQAGLVKKS KAVLDYHDDN FAIVFAAMGV NMETARFFKS DFEQNGTMGN VCLFLNLAND PTIERIITPR LALTTAEFLA YQCEKHVLVI LTDMSSYAEA LREVSAAREE VPGRRGFPGY MYTDLATIYE RAGRVEGRGG SITQIPILTM PNDDITHPIP DLTGFITEGQ IYVDRQLHNR QIYPPINVLP SLSRLMKSAI GEGMTRKDHG DVSNQLYACY AIGKDVQAMK AVVGEEALTS EDLLYLEFLQ KFEKNFINQG PYENRSVFES LDLGWKLLRI FPKEMLKRIP QAVIDEFYSR EGALQDLAPD TAL |
| 分子量 | 81.95 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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V型质子ATP酶亚基B(ATP6V1B1)的3篇代表性文献，简要总结如下：
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1. **文献名称**：Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
**作者**：Karet FEJ, et al.
**摘要**：该研究首次报道了ATP6V1B1基因突变与常染色体隐性远端肾小管酸中毒(dRTA)及感音神经性耳聋的关联，阐明了该亚基在肾脏和耳蜗酸碱平衡中的关键作用。
2. **文献名称**：Structure and regulation of the vacuolar ATPases
**作者**：Toei M, et al.
**摘要**：通过冷冻电镜和生化分析，揭示了V型ATP酶(包括ATP6V1B1亚基)的三维结构，探讨了其在质子转运中的构象变化及调控机制。
3. **文献名称**：Localization of ATP6V1B1 in the human inner ear and its role in acid-base homeostasis
**作者**：Stover EH, et al.
**摘要**：研究证实ATP6V1B1在人类内耳血管纹中的特异性表达，表明其通过调节内淋巴pH维持听觉功能，突变可导致耳聋和代谢紊乱。
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以上文献分别从疾病关联、结构功能分析及组织特异性角度揭示了ATP6V1B1的生物学意义。如需扩展，可补充细胞调控相关研究(如Hinton A et al. 2009关于糖皮质激素对ATP6V1B1的调控)。
ATP6V1B1. a subunit of the vacuolar-type H+-ATPase (V-ATPase), plays a critical role in intracellular proton transport and pH regulation. V-ATPases are multisubunit proton pumps that acidify organelles like lysosomes, endosomes, and secretory vesicles, supporting processes such as protein degradation, membrane trafficking, and ion homeostasis. The ATP6V1B1 protein is part of the cytosolic V1 domain, contributing to ATP hydrolysis and energy conversion necessary for proton translocation. It is widely expressed, with high levels in kidney, inner ear, and osteoclasts, reflecting its tissue-specific functions.
Mutations in the ATP6V1B1 gene are linked to human diseases. Autosomal recessive distal renal tubular acidosis (dRTA), characterized by impaired urinary acidification, is a primary disorder associated with ATP6V1B1 defects, often accompanied by sensorineural hearing loss due to its role in maintaining endolymph pH in the cochlea. Additionally, dysregulated V-ATPase activity is implicated in cancer progression, bone resorption disorders, and neurodegenerative conditions, highlighting its broader physiological relevance.
Recombinant human ATP6V1B1 is produced using bacterial or eukaryotic expression systems for structural and functional studies. It aids in deciphering molecular mechanisms of V-ATPase assembly, subunit interactions, and inhibitor binding, offering insights into therapeutic targeting for related diseases. Research on ATP6V1B1 also explores its potential as a biomarker or drug target in pathologies involving pH dysregulation, such as tumor metastasis or lysosomal storage disorders.
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