This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for SH3GL1. 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 = SH3GL1 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 SH3GL1, 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 |
|---|---|---|---|---|
| chr19:4,123,681–4,124,581 | 276.4 kb | Distal (>10kb) Multiome | 798 | |
| chr19:4,182,102–4,182,890 | 218.0 kb | Distal (>10kb) Multiome | 862 | |
| chr19:4,198,066–4,198,600 | 202.2 kb | Distal (>10kb) Multiome | 214 | |
| chr19:4,246,623–4,247,617 | 153.2 kb | Distal (>10kb) Multiome | 960 | |
| chr19:4,326,625–4,329,107 | 72.0 kb | Distal (>10kb) Multiome | 567 | |
| chr19:4,342,323–4,344,016 | 57.6 kb | Distal (>10kb) Multiome | 969 | |
| chr19:4,390,525–4,391,068 | 9.8 kb | Proximal (<10kb) Multiome | 464 | |
| chr19:4,399,835–4,401,019 | 71 bp | At TSS Multiome | 828 | |
| chr19:4,402,106–4,403,050 | 2.0 kb | Proximal (<10kb) Multiome | 731 | |
| chr19:4,456,541–4,458,172 | 57.2 kb | Distal (>10kb) Multiome | 757 | |
| chr19:4,471,202–4,472,545 | 71.4 kb | Distal (>10kb) Multiome | 715 | |
| chr19:4,474,252–4,474,874 | 74.2 kb | Distal (>10kb) Multiome | 201 | |
| chr19:4,534,817–4,535,416 | 134.7 kb | Distal (>10kb) Multiome | 451 | |
| chr19:4,556,056–4,556,977 | 156.2 kb | Distal (>10kb) Multiome | 259 | |
| chr19:4,581,475–4,581,916 | 181.2 kb | Distal (>10kb) Multiome | 358 | |
| chr19:4,597,380–4,598,540 | 197.6 kb | Distal (>10kb) Multiome | 280 | |
| chr19:4,633,303–4,633,826 | 233.0 kb | Distal (>10kb) Multiome | 500 | |
| chr19:4,636,101–4,636,717 | 235.9 kb | Distal (>10kb) Multiome | 445 | |
| chr19:4,639,001–4,640,103 | 238.9 kb | Distal (>10kb) Multiome | 710 | |
| chr19:4,669,686–4,671,221 | 269.9 kb | Distal (>10kb) Multiome | 797 | |
| chr19:4,678,652–4,679,681 | 278.7 kb | Distal (>10kb) Multiome | 164 |
Genomic view of the SH3GL1 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.