This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Transcription factors with Perturb-seq knockdown data for ATP6V1H. 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 = ATP6V1H 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 ATP6V1H, 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 |
|---|---|---|---|---|
| chr8:52,713,424–52,715,199 | 1128.7 kb | Distal (>10kb) Multiome HiCAR | 913 | |
| chr8:52,939,106–52,942,189 | 901.7 kb | Distal (>10kb) Multiome HiCAR | 558 | |
| chr8:53,018,601–53,019,713 | 824.1 kb | Distal (>10kb) Multiome HiCAR | 183 | |
| chr8:53,250,429–53,252,009 | 591.6 kb | Distal (>10kb) Multiome HiCAR | 248 | |
| chr8:53,656,485–53,658,965 | 185.4 kb | Distal (>10kb) Multiome | 536 | |
| chr8:53,692,724–53,693,521 | 150.1 kb | Distal (>10kb) Multiome | 302 | |
| chr8:53,766,492–53,767,096 | 76.5 kb | Distal (>10kb) Multiome | 118 | |
| chr8:53,842,551–53,843,618 | 97 bp | At TSS Multiome | 936 | |
| chr8:53,879,185–53,882,655 | 36.7 kb | Distal (>10kb) Multiome | 721 | |
| chr8:54,021,584–54,023,157 | 179.1 kb | Distal (>10kb) Multiome | 965 | |
| chr8:54,101,305–54,102,633 | 258.7 kb | Distal (>10kb) Multiome | 744 | |
| chr8:54,134,624–54,135,508 | 291.9 kb | Distal (>10kb) Multiome | 807 | |
| chr8:54,457,494–54,460,098 | 616.3 kb | Distal (>10kb) Multiome HiCAR | 361 | |
| chr8:54,466,222–54,467,657 | 623.6 kb | Distal (>10kb) Multiome HiCAR | 244 |
Genomic view of the ATP6V1H 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.