This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
Transcription factors with Perturb-seq knockdown data for ATP7A. 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 = ATP7A 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 ATP7A, 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 |
|---|---|---|---|---|
| chrX:77,785,454–77,786,614 | 124.5 kb | Distal (>10kb) Multiome | 501 | |
| chrX:77,894,933–77,895,826 | 15.2 kb | Distal (>10kb) Multiome | 543 | |
| chrX:77,899,137–77,899,809 | 11.3 kb | Distal (>10kb) Multiome | 504 | |
| chrX:77,910,405–77,911,140 | 54 bp | At TSS Multiome | 574 | |
| chrX:78,103,641–78,105,079 | 193.4 kb | Distal (>10kb) Multiome | 867 | |
| chrX:78,139,006–78,140,056 | 229.0 kb | Distal (>10kb) Multiome | 593 |
Genomic view of the ATP7A 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.