This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]
Transcription factors with Perturb-seq knockdown data for RRBP1. 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 = RRBP1 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 RRBP1, 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 |
|---|---|---|---|---|
| chr20:17,504,694–17,505,794 | 177.0 kb | Distal (>10kb) Multiome | 549 | |
| chr20:17,530,754–17,531,754 | 151.0 kb | Distal (>10kb) Multiome | 709 | |
| chr20:17,536,790–17,537,444 | 145.1 kb | Distal (>10kb) Multiome | 477 | |
| chr20:17,569,022–17,570,916 | 112.3 kb | Distal (>10kb) Multiome | 983 | |
| chr20:17,679,860–17,683,144 | 256 bp | At TSS Multiome | 1108 | |
| chr20:17,752,432–17,753,052 | 70.4 kb | Distal (>10kb) Multiome | 60 | |
| chr20:17,938,730–17,940,231 | 256.9 kb | Distal (>10kb) Multiome HiCAR | 678 | |
| chr20:17,968,085–17,969,639 | 286.6 kb | Distal (>10kb) Multiome | 1144 |
Genomic view of the RRBP1 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.