The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for LDLRAP1. 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 = LDLRAP1 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 LDLRAP1, 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 |
|---|---|---|---|---|
| chr1:25,246,452–25,248,229 | 295.9 kb | Distal (>10kb) Multiome | 1054 | |
| chr1:25,338,116–25,338,949 | 205.1 kb | Distal (>10kb) Multiome | 803 | |
| chr1:25,429,935–25,431,604 | 112.8 kb | Distal (>10kb) Multiome | 845 | |
| chr1:25,543,218–25,544,436 | 14 bp | At TSS Multiome | 569 | |
| chr1:25,615,967–25,618,316 | 73.0 kb | Distal (>10kb) Multiome | 585 | |
| chr1:25,799,785–25,800,844 | 256.6 kb | Distal (>10kb) Multiome | 369 | |
| chr1:25,819,447–25,821,126 | 276.4 kb | Distal (>10kb) Multiome | 904 |
Genomic view of the LDLRAP1 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.