AIM: To investigate the molecular mechanism of ATP6V1H gene and its encoded protein in the process of bone development by bioinformatics methods.METHODS:ATP6V1H gene and its encoded protein were analyzed by online or offline bioinformatics software.The physicochemical properties and transmembrane region/domain of the protein encoded by the gene were predicted.After the results of clinical phenotype analysis and genetic variation were obtained,the STRING online software was used to analyze the association between ATP6V1H gene and other genetic factors related to bone development.RESULTS:ATP6V1H gene is located on chromosome 8.The protein encoded by the gene contains 483 amino acids.It is a non-transmembrane hydrophilic protein with 43 possible phosphorylation sites.The protein is associated with bone and nervous system development,and has interactions with various proteins involved in osteogenesis and osteolysis.CONCLUSION: ATP6V1H gene is closely related to bone development and may affect the balance of bone metabolism in vivo by affecting the physiological function of osteoclasts.%目的:探讨 ATP6V1H基因在骨骼发育过程中发挥作用的分子机制.方法:应用在线或线下生物信息学软件对ATP6V1H基因及其编码蛋白质进行分析,并预测基因编码蛋白的理化性质和蛋白跨膜区域,结合遗传变异与临床表型分析的结果,应用STRING在线软件分析 ATP6V1H基因与骨骼发育相关因子之间的关联度.结果:ATP6V1H基因位于8号染色体,其编码的蛋白质含有483个氨基酸,是非跨膜亲水蛋白,含有43个可能的磷酸化位点,与破骨和成骨相关的多种蛋白存在相互作用关系.结论:ATP6V1H基因与骨骼发育密切相关,并可能通过影响破骨细胞的生理功能,进而影响体内的骨代谢平衡.
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