This locus spans the 5\' promoter region of the the nuclear receptor subfamily 5 group A member 1 (NR5A1/SF-1) gene. This promoter is regulated by binding of upstream transcription factors (USF1 and 2) to a conserved E-box, as well as binding by SRY-box factors and autoregulation by Nr5a1/Sf-1 protein. This region is hypomethylated and over-expressed in endometriosis. A subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
