The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for ERCC1. 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 = ERCC1 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 ERCC1, 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 |
|---|---|---|---|---|
| chr19:45,177,803–45,179,711 | 245.4 kb | Distal (>10kb) Multiome | 899 | |
| chr19:45,234,200–45,234,822 | 189.3 kb | Distal (>10kb) Multiome | 105 | |
| chr19:45,250,821–45,251,491 | 172.7 kb | Distal (>10kb) Multiome | 397 | |
| chr19:45,340,431–45,341,201 | 83.1 kb | Distal (>10kb) Multiome | 363 | |
| chr19:45,370,064–45,371,122 | 53.2 kb | Distal (>10kb) Multiome | 592 | |
| chr19:45,402,280–45,402,828 | 21.4 kb | Distal (>10kb) Multiome | 332 | |
| chr19:45,403,781–45,404,684 | 19.9 kb | Distal (>10kb) Multiome | 494 | |
| chr19:45,404,818–45,406,887 | 17.4 kb | Distal (>10kb) Multiome | 964 | |
| chr19:45,420,217–45,420,647 | 2.9 kb | Proximal (<10kb) | 56 | |
| chr19:45,423,326–45,424,545 | 164 bp | At TSS Multiome | 996 | |
| chr19:45,427,673–45,427,874 | 4.2 kb | Proximal (<10kb) | 434 | |
| chr19:45,428,663–45,428,893 | 5.2 kb | Proximal (<10kb) | 389 | |
| chr19:45,439,539–45,440,189 | 15.9 kb | Distal (>10kb) Multiome | 718 | |
| chr19:45,443,052–45,444,768 | 19.6 kb | Distal (>10kb) Multiome | 857 | |
| chr19:45,450,695–45,451,265 | 27.0 kb | Distal (>10kb) Multiome | 515 | |
| chr19:45,455,706–45,456,201 | 32.1 kb | Distal (>10kb) Multiome | 776 | |
| chr19:45,467,169–45,468,696 | 43.8 kb | Distal (>10kb) Multiome | 686 | |
| chr19:45,468,843–45,470,312 | 45.5 kb | Distal (>10kb) Multiome | 769 | |
| chr19:45,478,416–45,479,276 | 54.9 kb | Distal (>10kb) Multiome | 809 | |
| chr19:45,485,144–45,486,070 | 61.7 kb | Distal (>10kb) Multiome | 659 | |
| chr19:45,492,647–45,493,344 | 69.0 kb | Distal (>10kb) Multiome | 522 | |
| chr19:45,496,247–45,497,677 | 73.2 kb | Distal (>10kb) Multiome | 742 | |
| chr19:45,498,270–45,499,916 | 75.7 kb | Distal (>10kb) Multiome | 464 | |
| chr19:45,506,243–45,507,963 | 82.8 kb | Distal (>10kb) Multiome | 969 | |
| chr19:45,508,291–45,509,751 | 84.8 kb | Distal (>10kb) Multiome | 670 | |
| chr19:45,528,315–45,529,353 | 105.0 kb | Distal (>10kb) Multiome | 425 | |
| chr19:45,584,026–45,585,251 | 160.8 kb | Distal (>10kb) Multiome | 907 | |
| chr19:45,607,096–45,607,695 | 183.5 kb | Distal (>10kb) Multiome | 526 | |
| chr19:45,615,654–45,616,944 | 192.3 kb | Distal (>10kb) Multiome | 480 | |
| chr19:45,632,406–45,633,148 | 208.8 kb | Distal (>10kb) Multiome | 358 | |
| chr19:45,638,965–45,639,696 | 215.4 kb | Distal (>10kb) Multiome | 477 | |
| chr19:45,640,813–45,642,557 | 218.4 kb | Distal (>10kb) Multiome | 865 | |
| chr19:45,643,187–45,644,012 | 219.7 kb | Distal (>10kb) Multiome | 542 | |
| chr19:45,645,389–45,646,343 | 222.0 kb | Distal (>10kb) Multiome | 566 | |
| chr19:45,667,856–45,668,417 | 244.1 kb | Distal (>10kb) Multiome | 386 | |
| chr19:45,668,914–45,669,719 | 245.5 kb | Distal (>10kb) Multiome | 611 | |
| chr19:45,670,481–45,671,446 | 247.1 kb | Distal (>10kb) Multiome | 361 | |
| chr19:45,676,875–45,678,209 | 253.6 kb | Distal (>10kb) Multiome | 418 | |
| chr19:45,681,530–45,682,004 | 257.8 kb | Distal (>10kb) Multiome | 648 | |
| chr19:45,691,622–45,693,062 | 268.5 kb | Distal (>10kb) Multiome | 943 | |
| chr19:45,716,851–45,718,343 | 293.6 kb | Distal (>10kb) Multiome | 895 |
Genomic view of the ERCC1 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.