This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for HSPD1. 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 = HSPD1 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 HSPD1, 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 |
|---|---|---|---|---|
| chr2:197,309,737–197,311,360 | 189.4 kb | Distal (>10kb) Multiome | 642 | |
| chr2:197,322,642–197,323,971 | 176.8 kb | Distal (>10kb) Multiome | 185 | |
| chr2:197,434,572–197,435,653 | 65.0 kb | Distal (>10kb) Multiome | 937 | |
| chr2:197,452,830–197,454,321 | 46.8 kb | Distal (>10kb) Multiome | 1033 | |
| chr2:197,497,041–197,497,249 | 2.9 kb | Proximal (<10kb) | 28 | |
| chr2:197,498,722–197,500,854 | 32 bp | At TSS Multiome | 1173 | |
| chr2:197,515,482–197,516,752 | 15.9 kb | Distal (>10kb) Multiome | 1138 | |
| chr2:197,586,916–197,587,749 | 87.4 kb | Distal (>10kb) Multiome HiCAR | 118 | |
| chr2:197,704,733–197,706,212 | 205.2 kb | Distal (>10kb) Multiome | 870 | |
| chr2:197,785,007–197,786,878 | 286.2 kb | Distal (>10kb) Multiome | 322 |
Genomic view of the HSPD1 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.