Bioinformatics analysis of ATP6V1H gene and its role in bone development
HAO Ying
YANG Shao-qing
DUAN Xiao-hong
Abstract：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.
Keywords：ATP6V1H genebioinformaticsgenetic variationsequence analysisbone development
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 245-249 )