This locus includes a conserved genomic element that can function as an enhancer. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic midbrain and neural tube of transgenic mice. An overlapping subregion marked by the H3K27ac and H3K4me1 histone modifications was also shown to be an active enhancer by ChIP-STARR-seq in naive human embryonic stem cells. Another subregion was validated as an enhancer by high-throughput massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. That subregion contains a conserved motif for a GATA activator, and mutation of the motif results in reduced enhancer activity. Another subregion represents an accessible chromatin region used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in K562 cells. [provided by RefSeq, Apr 2023]
