This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
Transcription factors with Perturb-seq knockdown data for SBF1. 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 = SBF1 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 SBF1, 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 |
|---|---|---|---|---|
| chr22:50,184,288–50,186,776 | 289.2 kb | Distal (>10kb) Multiome | 542 | |
| chr22:50,199,706–50,201,679 | 274.1 kb | Distal (>10kb) Multiome | 612 | |
| chr22:50,244,340–50,245,635 | 230.0 kb | Distal (>10kb) Multiome | 868 | |
| chr22:50,250,480–50,251,917 | 223.7 kb | Distal (>10kb) Multiome | 683 | |
| chr22:50,261,070–50,261,932 | 213.4 kb | Distal (>10kb) Multiome | 512 | |
| chr22:50,267,469–50,268,208 | 207.3 kb | Distal (>10kb) Multiome | 196 | |
| chr22:50,271,717–50,272,193 | 203.1 kb | Distal (>10kb) Multiome | 331 | |
| chr22:50,299,702–50,300,750 | 174.7 kb | Distal (>10kb) Multiome | 250 | |
| chr22:50,307,140–50,307,760 | 167.5 kb | Distal (>10kb) Multiome | 392 | |
| chr22:50,326,615–50,327,631 | 148.0 kb | Distal (>10kb) Multiome | 754 | |
| chr22:50,342,153–50,342,608 | 132.6 kb | Distal (>10kb) Multiome | 553 | |
| chr22:50,342,772–50,343,603 | 131.9 kb | Distal (>10kb) Multiome | 573 | |
| chr22:50,469,793–50,470,496 | 4.6 kb | Proximal (<10kb) | 300 | |
| chr22:50,474,348–50,475,571 | 41 bp | At TSS Multiome | 487 | |
| chr22:50,481,062–50,482,150 | 6.4 kb | Proximal (<10kb) Multiome | 387 | |
| chr22:50,506,343–50,508,710 | 32.9 kb | Distal (>10kb) Multiome | 856 | |
| chr22:50,524,965–50,527,480 | 52.0 kb | Distal (>10kb) Multiome | 1031 | |
| chr22:50,529,065–50,532,692 | 55.8 kb | Distal (>10kb) Multiome | 745 | |
| chr22:50,562,609–50,563,508 | 87.9 kb | Distal (>10kb) Multiome | 680 | |
| chr22:50,582,134–50,583,431 | 107.9 kb | Distal (>10kb) Multiome | 871 | |
| chr22:50,627,527–50,628,705 | 153.1 kb | Distal (>10kb) Multiome | 685 | |
| chr22:50,674,352–50,675,344 | 199.9 kb | Distal (>10kb) Multiome | 386 | |
| chr22:50,696,725–50,697,564 | 222.3 kb | Distal (>10kb) Multiome | 184 | |
| chr22:50,720,392–50,721,059 | 245.5 kb | Distal (>10kb) Multiome | 60 |
Genomic view of the SBF1 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.