This genomic region encompasses regulatory elements in the 5\' region of the Wilms tumor 1 (WT1) gene, including promoters and enhancers of WT1, as well as promoters for the WT1 antisense RNA (WT1-AS) gene. Wt1 protein autoregulates this region by increasing transcription from the WT1-AS gene and suppressing transcription from the WT1 promoter. The WT1-AS RNA may also bind to this region and downregulate WT1 transcription. Expression of WT1 is positively regulated through binding of paired box proteins and ETS variant 4. Both the WT1 and WT1-AS promoter undergo parent-of-origin specific imprinting, and the WT1 promoter is often methylated and silenced in tumor cells. Methylation-dependent repression may be blocked by binding of CCCTC-binding factor. Two subregions were shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where both are marked by the K3K4me1 histone modification and one is additionally marked by H3K27ac. [provided by RefSeq, Nov 2022]
