This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
Transcription factors with Perturb-seq knockdown data for ATP7B. 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 = ATP7B 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 ATP7B, 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 |
|---|---|---|---|---|
| chr13:51,795,081–51,795,749 | 216.6 kb | Distal (>10kb) Multiome | 50 | |
| chr13:51,803,129–51,804,466 | 208.1 kb | Distal (>10kb) Multiome | 844 | |
| chr13:51,997,545–51,998,310 | 14.1 kb | Distal (>10kb) Multiome | 461 | |
| chr13:52,011,124–52,012,698 | 78 bp | At TSS Multiome | 960 | |
| chr13:52,128,284–52,129,389 | 116.9 kb | Distal (>10kb) Multiome | 598 | |
| chr13:52,159,155–52,160,117 | 147.4 kb | Distal (>10kb) Multiome | 831 | |
| chr13:52,194,155–52,194,839 | 182.4 kb | Distal (>10kb) Multiome | 888 | |
| chr13:52,195,279–52,195,948 | 183.6 kb | Distal (>10kb) Multiome | 267 |
Genomic view of the ATP7B 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.