This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for SLC7A14. 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 = SLC7A14 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 SLC7A14, 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 |
|---|---|---|---|---|
| chr3:170,356,326–170,358,653 | 228.8 kb | Distal (>10kb) Multiome | 971 | |
| chr3:170,418,375–170,421,188 | 167.3 kb | Distal (>10kb) Multiome HiCAR | 413 | |
| chr3:170,425,589–170,426,593 | 159.9 kb | Distal (>10kb) Multiome HiCAR | 432 | |
| chr3:170,476,158–170,477,136 | 109.4 kb | Distal (>10kb) Multiome | 116 | |
| chr3:170,584,438–170,585,040 | 1.2 kb | Proximal (<10kb) Multiome | 442 | |
| chr3:170,585,131–170,586,475 | at TSS | At TSS | 234 | |
| chr3:170,595,989–170,596,618 | 10.0 kb | Proximal (<10kb) | 95 | |
| chr3:170,685,663–170,686,879 | 100.0 kb | Distal (>10kb) Multiome HiCAR | 9 | |
| chr3:170,697,673–170,698,830 | 112.2 kb | Distal (>10kb) Multiome HiCAR | 176 | |
| chr3:170,817,407–170,818,229 | 231.7 kb | Distal (>10kb) Multiome HiCAR | 68 |
Genomic view of the SLC7A14 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.