This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Transcription factors with Perturb-seq knockdown data for RAB3GAP1. 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 = RAB3GAP1 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 RAB3GAP1, 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 |
|---|---|---|---|---|
| chr2:134,751,756–134,752,551 | 300.2 kb | Distal (>10kb) Multiome | 87 | |
| chr2:134,771,271–134,772,068 | 280.8 kb | Distal (>10kb) Multiome | 67 | |
| chr2:134,772,446–134,773,111 | 279.4 kb | Distal (>10kb) Multiome | 73 | |
| chr2:134,773,347–134,774,561 | 278.2 kb | Distal (>10kb) Multiome | 237 | |
| chr2:134,774,748–134,775,767 | 277.0 kb | Distal (>10kb) Multiome | 312 | |
| chr2:134,917,525–134,919,689 | 133.7 kb | Distal (>10kb) Multiome | 1062 | |
| chr2:135,051,922–135,052,757 | 41 bp | At TSS Multiome | 803 | |
| chr2:135,110,158–135,110,677 | 58.2 kb | Distal (>10kb) Multiome | 68 |
Genomic view of the RAB3GAP1 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.