The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]
Transcription factors with Perturb-seq knockdown data for EGLN1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = EGLN1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of EGLN1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr1:231,161,989–231,163,833 | 259.8 kb | Distal (>10kb) Multiome | 768 | |
| chr1:231,211,148–231,211,998 | 210.8 kb | Distal (>10kb) Multiome | 631 | |
| chr1:231,240,746–231,241,633 | 181.0 kb | Distal (>10kb) Multiome | 834 | |
| chr1:231,337,024–231,338,750 | 84.2 kb | Distal (>10kb) Multiome | 881 | |
| chr1:231,420,882–231,422,905 | 118 bp | At TSS Multiome | 956 | |
| chr1:231,528,042–231,528,983 | 106.2 kb | Distal (>10kb) Multiome | 873 | |
| chr1:231,626,385–231,627,805 | 205.2 kb | Distal (>10kb) Multiome | 776 |
Genomic view of the EGLN1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.