This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
Transcription factors with Perturb-seq knockdown data for GPR143. 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 = GPR143 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 GPR143, 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:9,765,096–9,765,691 | 155 bp | At TSS | 79 | |
| chrX:9,765,796–9,766,035 | at TSS | At TSS | 70 | |
| chrX:9,770,417–9,770,645 | 4.6 kb | Proximal (<10kb) | 53 | |
| chrX:9,785,579–9,787,069 | 13 bp | At TSS Multiome | 243 | |
| chrX:10,014,411–10,016,412 | 228.8 kb | Distal (>10kb) Multiome | 486 |
Genomic view of the GPR143 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.