The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for PLEKHM1. 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 = PLEKHM1 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 PLEKHM1, 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 |
|---|---|---|---|---|
| chr17:45,197,493–45,198,189 | 292.8 kb | Distal (>10kb) Multiome | 835 | |
| chr17:45,241,380–45,242,217 | 248.9 kb | Distal (>10kb) Multiome | 131 | |
| chr17:45,246,828–45,248,615 | 243.0 kb | Distal (>10kb) Multiome | 858 | |
| chr17:45,261,690–45,262,406 | 228.7 kb | Distal (>10kb) Multiome | 234 | |
| chr17:45,316,202–45,317,910 | 173.6 kb | Distal (>10kb) Multiome | 857 | |
| chr17:45,334,174–45,334,847 | 156.3 kb | Distal (>10kb) Multiome | 149 | |
| chr17:45,371,481–45,372,140 | 118.9 kb | Distal (>10kb) Multiome | 704 | |
| chr17:45,395,009–45,395,645 | 95.4 kb | Distal (>10kb) Multiome | 482 | |
| chr17:45,404,953–45,406,129 | 85.3 kb | Distal (>10kb) Multiome | 244 | |
| chr17:45,425,403–45,426,061 | 64.9 kb | Distal (>10kb) Multiome | 506 | |
| chr17:45,427,967–45,428,575 | 62.5 kb | Distal (>10kb) Multiome | 454 | |
| chr17:45,429,511–45,430,237 | 61.0 kb | Distal (>10kb) Multiome | 190 | |
| chr17:45,431,253–45,432,633 | 59.0 kb | Distal (>10kb) Multiome | 435 | |
| chr17:45,490,681–45,490,901 | at TSS | At TSS | 246 | |
| chr17:45,783,636–45,785,394 | 293.5 kb | Distal (>10kb) Multiome | 464 |
Genomic view of the PLEKHM1 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.