The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
Transcription factors with Perturb-seq knockdown data for ASPSCR1. 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 = ASPSCR1 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 ASPSCR1, 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 |
|---|---|---|---|---|
| chr17:81,683,344–81,684,556 | 293.7 kb | Distal (>10kb) Multiome | 926 | |
| chr17:81,702,879–81,703,868 | 274.2 kb | Distal (>10kb) Multiome | 981 | |
| chr17:81,711,721–81,712,812 | 265.4 kb | Distal (>10kb) Multiome | 1056 | |
| chr17:81,832,473–81,833,976 | 144.3 kb | Distal (>10kb) Multiome | 1015 | |
| chr17:81,859,762–81,861,595 | 116.8 kb | Distal (>10kb) Multiome | 1134 | |
| chr17:81,868,421–81,868,978 | 109.0 kb | Distal (>10kb) Multiome | 577 | |
| chr17:81,869,000–81,872,289 | 106.3 kb | Distal (>10kb) Multiome | 1136 | |
| chr17:81,891,143–81,892,257 | 85.8 kb | Distal (>10kb) Multiome | 969 | |
| chr17:81,910,443–81,911,980 | 66.0 kb | Distal (>10kb) Multiome | 806 | |
| chr17:81,917,586–81,918,522 | 59.4 kb | Distal (>10kb) Multiome | 619 | |
| chr17:81,923,285–81,923,863 | 54.1 kb | Distal (>10kb) Multiome | 399 | |
| chr17:81,926,141–81,929,133 | 49.7 kb | Distal (>10kb) Multiome | 1034 | |
| chr17:81,936,855–81,937,682 | 40.3 kb | Distal (>10kb) Multiome | 854 | |
| chr17:81,959,299–81,962,169 | 17.9 kb | Distal (>10kb) Multiome | 805 | |
| chr17:81,966,804–81,968,359 | 9.5 kb | Proximal (<10kb) Multiome | 908 | |
| chr17:81,976,595–81,978,312 | 54 bp | At TSS Multiome | 1001 | |
| chr17:82,019,856–82,020,391 | 42.5 kb | Distal (>10kb) Multiome | 436 | |
| chr17:82,022,355–82,024,111 | 45.5 kb | Distal (>10kb) Multiome | 898 | |
| chr17:82,029,976–82,032,662 | 54.3 kb | Distal (>10kb) Multiome | 695 | |
| chr17:82,036,902–82,037,961 | 60.0 kb | Distal (>10kb) Multiome | 892 | |
| chr17:82,051,387–82,052,184 | 74.2 kb | Distal (>10kb) Multiome | 479 | |
| chr17:82,065,558–82,066,150 | 88.2 kb | Distal (>10kb) Multiome | 967 | |
| chr17:82,096,478–82,100,203 | 120.9 kb | Distal (>10kb) Multiome | 1085 | |
| chr17:82,103,334–82,104,356 | 126.0 kb | Distal (>10kb) Multiome | 672 | |
| chr17:82,212,405–82,213,592 | 235.3 kb | Distal (>10kb) Multiome | 911 | |
| chr17:82,228,266–82,232,536 | 251.4 kb | Distal (>10kb) Multiome | 1048 | |
| chr17:82,272,608–82,274,062 | 296.1 kb | Distal (>10kb) Multiome | 943 |
Genomic view of the ASPSCR1 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.