Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015]
Transcription factors with Perturb-seq knockdown data for ERVH48-1. 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 = ERVH48-1 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 ERVH48-1, 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 |
|---|---|---|---|---|
| chr21:42,652,544–42,654,689 | 272.0 kb | Distal (>10kb) Multiome | 510 | |
| chr21:42,793,699–42,794,977 | 131.6 kb | Distal (>10kb) Multiome | 52 | |
| chr21:42,806,044–42,807,071 | 119.0 kb | Distal (>10kb) Multiome | 113 | |
| chr21:42,878,621–42,880,078 | 46.2 kb | Distal (>10kb) Multiome | 989 | |
| chr21:42,892,360–42,893,974 | 32.4 kb | Distal (>10kb) Multiome | 992 | |
| chr21:42,923,670–42,924,528 | 1.5 kb | Proximal (<10kb) Multiome | 542 | |
| chr21:42,925,494–42,925,953 | 131 bp | At TSS Multiome | 42 | |
| chr21:42,929,391–42,929,898 | 3.8 kb | Proximal (<10kb) | 42 | |
| chr21:42,930,003–42,930,342 | 4.4 kb | Proximal (<10kb) | 100 | |
| chr21:42,936,514–42,937,904 | 11.9 kb | Distal (>10kb) Multiome | 182 | |
| chr21:42,955,489–42,956,014 | 30.1 kb | Distal (>10kb) Multiome | 345 | |
| chr21:42,956,807–42,957,632 | 31.6 kb | Distal (>10kb) Multiome | 172 | |
| chr21:42,972,793–42,975,770 | 48.8 kb | Distal (>10kb) Multiome | 945 |
Genomic view of the ERVH48-1 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.