This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]
Transcription factors with Perturb-seq knockdown data for BCAP31. 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 = BCAP31 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 BCAP31, 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 |
|---|---|---|---|---|
| chrX:153,469,901–153,471,108 | 253.6 kb | Distal (>10kb) Multiome | 508 | |
| chrX:153,598,511–153,599,722 | 125.1 kb | Distal (>10kb) Multiome | 459 | |
| chrX:153,609,905–153,610,354 | 114.3 kb | Distal (>10kb) Multiome | 404 | |
| chrX:153,687,144–153,688,247 | 36.6 kb | Distal (>10kb) Multiome | 201 | |
| chrX:153,723,829–153,725,285 | 214 bp | At TSS Multiome | 620 | |
| chrX:153,726,395–153,727,168 | 2.5 kb | Proximal (<10kb) Multiome | 529 | |
| chrX:153,793,808–153,795,045 | 70.0 kb | Distal (>10kb) Multiome | 733 | |
| chrX:153,875,415–153,875,856 | 151.3 kb | Distal (>10kb) Multiome | 847 | |
| chrX:153,878,887–153,879,684 | 154.8 kb | Distal (>10kb) Multiome | 235 | |
| chrX:153,927,955–153,928,728 | 204.0 kb | Distal (>10kb) Multiome | 711 | |
| chrX:153,934,763–153,935,658 | 210.8 kb | Distal (>10kb) Multiome | 446 | |
| chrX:153,970,913–153,973,065 | 248.1 kb | Distal (>10kb) Multiome | 857 |
Genomic view of the BCAP31 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.