This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for PMEL. 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 = PMEL 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 PMEL, 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 |
|---|---|---|---|---|
| chr12:55,681,171–55,682,136 | 285.1 kb | Distal (>10kb) Multiome | 647 | |
| chr12:55,707,276–55,708,500 | 258.7 kb | Distal (>10kb) Multiome | 372 | |
| chr12:55,715,733–55,716,775 | 250.4 kb | Distal (>10kb) Multiome | 929 | |
| chr12:55,727,952–55,730,453 | 237.3 kb | Distal (>10kb) Multiome | 895 | |
| chr12:55,736,969–55,737,781 | 229.5 kb | Distal (>10kb) Multiome HiCAR | 496 | |
| chr12:55,737,830–55,739,085 | 228.2 kb | Distal (>10kb) Multiome HiCAR | 475 | |
| chr12:55,742,540–55,744,252 | 223.5 kb | Distal (>10kb) Multiome | 631 | |
| chr12:55,745,091–55,746,361 | 220.9 kb | Distal (>10kb) Multiome | 299 | |
| chr12:55,817,254–55,818,558 | 148.8 kb | Distal (>10kb) Multiome | 749 | |
| chr12:55,829,008–55,831,505 | 137.1 kb | Distal (>10kb) Multiome | 921 | |
| chr12:55,926,651–55,928,471 | 38.6 kb | Distal (>10kb) Multiome | 993 | |
| chr12:55,931,904–55,932,439 | 34.6 kb | Distal (>10kb) Multiome | 279 | |
| chr12:55,940,073–55,940,746 | 26.3 kb | Distal (>10kb) Multiome | 478 | |
| chr12:55,966,006–55,967,470 | 40 bp | At TSS Multiome | 615 | |
| chr12:55,973,347–55,974,716 | 7.2 kb | Proximal (<10kb) Multiome | 966 | |
| chr12:55,996,814–55,997,861 | 30.5 kb | Distal (>10kb) Multiome | 680 | |
| chr12:56,006,888–56,008,461 | 40.9 kb | Distal (>10kb) Multiome | 745 | |
| chr12:56,020,644–56,021,511 | 54.3 kb | Distal (>10kb) Multiome | 364 | |
| chr12:56,041,220–56,042,537 | 75.1 kb | Distal (>10kb) Multiome | 1035 | |
| chr12:56,078,964–56,081,015 | 113.3 kb | Distal (>10kb) Multiome | 1032 | |
| chr12:56,103,918–56,105,302 | 137.7 kb | Distal (>10kb) Multiome | 977 | |
| chr12:56,115,844–56,117,060 | 149.8 kb | Distal (>10kb) Multiome | 958 | |
| chr12:56,117,641–56,119,301 | 151.5 kb | Distal (>10kb) Multiome | 1052 | |
| chr12:56,126,181–56,126,640 | 159.6 kb | Distal (>10kb) Multiome | 671 | |
| chr12:56,127,552–56,129,104 | 161.4 kb | Distal (>10kb) Multiome | 800 | |
| chr12:56,151,724–56,153,003 | 185.7 kb | Distal (>10kb) Multiome | 830 | |
| chr12:56,157,307–56,159,499 | 191.5 kb | Distal (>10kb) Multiome | 1008 | |
| chr12:56,188,836–56,190,865 | 223.7 kb | Distal (>10kb) Multiome | 954 | |
| chr12:56,221,094–56,222,691 | 255.3 kb | Distal (>10kb) Multiome | 884 | |
| chr12:56,223,843–56,224,800 | 257.6 kb | Distal (>10kb) Multiome | 765 | |
| chr12:56,257,471–56,258,774 | 291.7 kb | Distal (>10kb) Multiome | 710 | |
| chr12:56,266,608–56,267,683 | 300.3 kb | Distal (>10kb) Multiome | 857 |
Genomic view of the PMEL 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.