This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Transcription factors with Perturb-seq knockdown data for SERPINH1. 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 = SERPINH1 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 SERPINH1, 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 |
|---|---|---|---|---|
| chr11:75,331,054–75,332,820 | 230.0 kb | Distal (>10kb) Multiome | 273 | |
| chr11:75,343,281–75,343,976 | 218.4 kb | Distal (>10kb) Multiome | 375 | |
| chr11:75,351,219–75,352,738 | 209.9 kb | Distal (>10kb) Multiome | 868 | |
| chr11:75,388,579–75,389,156 | 173.3 kb | Distal (>10kb) Multiome | 323 | |
| chr11:75,399,325–75,400,051 | 162.6 kb | Distal (>10kb) Multiome | 982 | |
| chr11:75,425,349–75,425,850 | 136.4 kb | Distal (>10kb) Multiome | 134 | |
| chr11:75,427,839–75,428,742 | 133.8 kb | Distal (>10kb) Multiome | 209 | |
| chr11:75,429,695–75,430,823 | 131.9 kb | Distal (>10kb) Multiome | 340 | |
| chr11:75,524,766–75,526,517 | 36.1 kb | Distal (>10kb) Multiome | 663 | |
| chr11:75,547,627–75,548,081 | 14.3 kb | Distal (>10kb) Multiome | 241 | |
| chr11:75,554,271–75,554,862 | 7.5 kb | Proximal (<10kb) Multiome | 441 | |
| chr11:75,559,107–75,559,968 | 2.6 kb | Proximal (<10kb) Multiome | 262 | |
| chr11:75,561,674–75,564,448 | 90 bp | At TSS Multiome | 813 | |
| chr11:75,582,925–75,584,268 | 21.8 kb | Distal (>10kb) Multiome | 489 | |
| chr11:75,667,242–75,669,059 | 105.5 kb | Distal (>10kb) Multiome | 328 | |
| chr11:75,768,053–75,769,178 | 206.5 kb | Distal (>10kb) Multiome | 885 | |
| chr11:75,780,954–75,781,467 | 219.0 kb | Distal (>10kb) Multiome | 37 | |
| chr11:75,814,230–75,815,903 | 252.9 kb | Distal (>10kb) Multiome | 814 |
Genomic view of the SERPINH1 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.