This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for OSTM1. 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 = OSTM1 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 OSTM1, 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 |
|---|---|---|---|---|
| chr6:107,847,911–107,848,803 | 226.3 kb | Distal (>10kb) Multiome | 650 | |
| chr6:107,957,316–107,958,729 | 116.4 kb | Distal (>10kb) Multiome | 909 | |
| chr6:108,074,193–108,075,197 | 63 bp | At TSS Multiome | 935 | |
| chr6:108,117,713–108,118,288 | 43.3 kb | Distal (>10kb) Multiome | 242 | |
| chr6:108,133,646–108,134,560 | 59.3 kb | Distal (>10kb) Multiome | 560 | |
| chr6:108,164,692–108,165,502 | 90.4 kb | Distal (>10kb) Multiome | 111 | |
| chr6:108,260,173–108,261,671 | 186.5 kb | Distal (>10kb) Multiome | 970 | |
| chr6:108,294,541–108,295,678 | 220.2 kb | Distal (>10kb) Multiome | 880 |
Genomic view of the OSTM1 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.