The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for SAR1B. 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 = SAR1B 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 SAR1B, 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 |
|---|---|---|---|---|
| chr5:134,366,722–134,367,362 | 265.6 kb | Distal (>10kb) Multiome | 682 | |
| chr5:134,370,722–134,372,303 | 261.5 kb | Distal (>10kb) Multiome | 1080 | |
| chr5:134,411,465–134,412,433 | 220.9 kb | Distal (>10kb) Multiome | 989 | |
| chr5:134,465,626–134,467,213 | 166.9 kb | Distal (>10kb) Multiome | 926 | |
| chr5:134,506,114–134,506,990 | 126.4 kb | Distal (>10kb) Multiome | 644 | |
| chr5:134,511,761–134,512,800 | 120.5 kb | Distal (>10kb) Multiome | 505 | |
| chr5:134,523,964–134,528,361 | 105.2 kb | Distal (>10kb) Multiome | 1077 | |
| chr5:134,539,671–134,540,206 | 92.9 kb | Distal (>10kb) Multiome | 144 | |
| chr5:134,586,828–134,587,543 | 45.6 kb | Distal (>10kb) Multiome | 407 | |
| chr5:134,632,348–134,633,007 | 9 bp | At TSS Multiome | 1019 | |
| chr5:134,648,377–134,649,305 | 16.0 kb | Distal (>10kb) Multiome | 995 | |
| chr5:134,737,780–134,739,410 | 105.6 kb | Distal (>10kb) Multiome | 1014 | |
| chr5:134,758,294–134,759,262 | 125.9 kb | Distal (>10kb) Multiome | 1011 | |
| chr5:134,845,740–134,846,572 | 213.2 kb | Distal (>10kb) Multiome | 923 | |
| chr5:134,873,977–134,874,865 | 241.5 kb | Distal (>10kb) Multiome | 978 | |
| chr5:134,904,363–134,905,880 | 272.1 kb | Distal (>10kb) Multiome | 1005 |
Genomic view of the SAR1B 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.