This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GNB1L. 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 = GNB1L 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 GNB1L, 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 |
|---|---|---|---|---|
| chr22:19,717,840–19,718,731 | 136.7 kb | Distal (>10kb) Multiome | 592 | |
| chr22:19,723,413–19,724,584 | 130.7 kb | Distal (>10kb) Multiome | 572 | |
| chr22:19,730,516–19,731,296 | 124.0 kb | Distal (>10kb) Multiome | 743 | |
| chr22:19,765,840–19,766,429 | 88.8 kb | Distal (>10kb) Multiome | 174 | |
| chr22:19,854,381–19,855,705 | 10 bp | At TSS Multiome | 1014 | |
| chr22:19,891,576–19,892,031 | 36.8 kb | Distal (>10kb) Multiome | 631 | |
| chr22:19,959,058–19,959,828 | 104.5 kb | Distal (>10kb) Multiome | 576 | |
| chr22:19,962,339–19,962,798 | 107.6 kb | Distal (>10kb) Multiome | 442 | |
| chr22:19,986,350–19,987,426 | 132.2 kb | Distal (>10kb) Multiome | 539 | |
| chr22:20,016,068–20,017,437 | 161.9 kb | Distal (>10kb) Multiome | 640 | |
| chr22:20,020,662–20,021,745 | 166.1 kb | Distal (>10kb) Multiome | 718 | |
| chr22:20,079,663–20,080,743 | 225.2 kb | Distal (>10kb) Multiome | 994 | |
| chr22:20,116,628–20,118,048 | 262.4 kb | Distal (>10kb) Multiome | 999 | |
| chr22:20,130,806–20,131,896 | 276.3 kb | Distal (>10kb) Multiome | 525 |
Genomic view of the GNB1L 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.