要約
This region represents the promoter of secreted phosphoprotein 1 (SPP1), also known as osteopontin. This promoter is regulated by binding of runt related transcription factors, MYC proto-oncogene, and AP-1 family factors. This region contains several common polymorphisms (including rs11730582, rs11439060, and rs28357094) that can affect promoter activity and are associated with the risk of cancer, hepatitis C, and other diseases. This sequence also includes the first intron of the SPP1 gene, which contains nuclear factor kappa B and CCAAT/enhancer binding protein sites that positively regulate promoter activity. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive and primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. [provided by RefSeq, Dec 2022]
