This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Transcription factors with Perturb-seq knockdown data for COL4A1. 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 = COL4A1 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 COL4A1, 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 |
|---|---|---|---|---|
| chr13:110,137,769–110,139,050 | 168.6 kb | Distal (>10kb) Multiome | 516 | |
| chr13:110,186,087–110,187,420 | 120.6 kb | Distal (>10kb) Multiome | 95 | |
| chr13:110,296,934–110,297,384 | 9.8 kb | Proximal (<10kb) | 15 | |
| chr13:110,306,322–110,309,108 | 18 bp | At TSS Multiome | 398 | |
| chr13:110,312,518–110,313,013 | 5.4 kb | Proximal (<10kb) | 91 | |
| chr13:110,485,584–110,487,244 | 179.4 kb | Distal (>10kb) Multiome | 272 | |
| chr13:110,540,846–110,542,010 | 234.2 kb | Distal (>10kb) Multiome | 268 | |
| chr13:110,561,007–110,562,237 | 254.6 kb | Distal (>10kb) Multiome | 710 |
Genomic view of the COL4A1 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.