This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]
Transcription factors with Perturb-seq knockdown data for LZTFL1. 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 = LZTFL1 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 LZTFL1, 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 |
|---|---|---|---|---|
| chr3:45,593,037–45,594,632 | 248.7 kb | Distal (>10kb) Multiome | 938 | |
| chr3:45,673,142–45,673,693 | 168.6 kb | Distal (>10kb) Multiome | 31 | |
| chr3:45,684,209–45,684,875 | 157.5 kb | Distal (>10kb) Multiome | 109 | |
| chr3:45,685,643–45,686,405 | 156.0 kb | Distal (>10kb) Multiome | 42 | |
| chr3:45,688,221–45,689,801 | 152.8 kb | Distal (>10kb) Multiome | 1010 | |
| chr3:45,756,823–45,757,497 | 84.7 kb | Distal (>10kb) Multiome | 7 | |
| chr3:45,760,846–45,761,421 | 80.9 kb | Distal (>10kb) Multiome | 280 | |
| chr3:45,796,192–45,796,864 | 45.5 kb | Distal (>10kb) Multiome | 188 | |
| chr3:45,841,672–45,842,368 | 95 bp | At TSS Multiome | 746 | |
| chr3:45,995,063–45,996,144 | 153.7 kb | Distal (>10kb) Multiome | 790 |
Genomic view of the LZTFL1 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.