This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Transcription factors with Perturb-seq knockdown data for STIM1. 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 = STIM1 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 STIM1, 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 |
|---|---|---|---|---|
| chr11:3,580,829–3,581,470 | 273.9 kb | Distal (>10kb) Multiome | 80 | |
| chr11:3,614,331–3,614,934 | 240.6 kb | Distal (>10kb) Multiome | 150 | |
| chr11:3,641,420–3,643,023 | 213.0 kb | Distal (>10kb) Multiome | 679 | |
| chr11:3,796,972–3,798,333 | 57.4 kb | Distal (>10kb) Multiome | 985 | |
| chr11:3,807,708–3,808,953 | 46.9 kb | Distal (>10kb) Multiome | 598 | |
| chr11:3,824,581–3,825,191 | 30.3 kb | Distal (>10kb) Multiome | 332 | |
| chr11:3,840,339–3,841,901 | 14.1 kb | Distal (>10kb) Multiome | 853 | |
| chr11:3,854,400–3,856,473 | at TSS | At TSS Multiome | 929 | |
| chr11:4,094,080–4,095,334 | 239.5 kb | Distal (>10kb) Multiome HiCAR | 925 |
Genomic view of the STIM1 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.