This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ATP6V1E1. 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 = ATP6V1E1 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 ATP6V1E1, 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 |
|---|---|---|---|---|
| chr22:17,366,817–17,367,342 | 261.7 kb | Distal (>10kb) Multiome | 186 | |
| chr22:17,368,390–17,370,790 | 259.5 kb | Distal (>10kb) Multiome | 494 | |
| chr22:17,379,144–17,379,660 | 249.3 kb | Distal (>10kb) Multiome | 126 | |
| chr22:17,621,163–17,621,408 | 7.3 kb | Proximal (<10kb) | 13 | |
| chr22:17,628,467–17,629,189 | 79 bp | At TSS Multiome | 714 | |
| chr22:17,638,195–17,639,235 | 10.0 kb | Proximal (<10kb) Multiome | 934 | |
| chr22:17,773,581–17,774,636 | 145.3 kb | Distal (>10kb) Multiome | 486 | |
| chr22:17,921,809–17,922,254 | 293.4 kb | Distal (>10kb) Multiome | 99 |
Genomic view of the ATP6V1E1 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.