This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Transcription factors with Perturb-seq knockdown data for PMVK. 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 = PMVK 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 PMVK, 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 |
|---|---|---|---|---|
| chr1:154,489,011–154,489,730 | 447.3 kb | Distal (>10kb) Multiome HiCAR | 82 | |
| chr1:154,493,110–154,493,579 | 443.4 kb | Distal (>10kb) Multiome HiCAR | 134 | |
| chr1:154,558,123–154,559,826 | 377.9 kb | Distal (>10kb) Multiome HiCAR | 1173 | |
| chr1:154,567,476–154,568,396 | 368.8 kb | Distal (>10kb) Multiome HiCAR | 774 | |
| chr1:154,607,914–154,609,125 | 328.0 kb | Distal (>10kb) Multiome HiCAR | 720 | |
| chr1:154,683,607–154,684,346 | 252.7 kb | Distal (>10kb) Multiome | 39 | |
| chr1:154,760,465–154,760,941 | 176.1 kb | Distal (>10kb) Multiome | 418 | |
| chr1:154,813,354–154,814,052 | 123.1 kb | Distal (>10kb) Multiome | 189 | |
| chr1:154,870,031–154,870,680 | 66.3 kb | Distal (>10kb) Multiome | 300 | |
| chr1:154,936,148–154,937,752 | 238 bp | At TSS Multiome | 1149 | |
| chr1:154,943,869–154,944,060 | 7.2 kb | Proximal (<10kb) | 232 | |
| chr1:154,955,571–154,956,925 | 19.5 kb | Distal (>10kb) Multiome | 504 | |
| chr1:154,961,269–154,962,529 | 25.0 kb | Distal (>10kb) Multiome | 985 | |
| chr1:154,970,161–154,971,641 | 34.2 kb | Distal (>10kb) Multiome | 535 | |
| chr1:154,972,362–154,975,914 | 37.9 kb | Distal (>10kb) Multiome | 1085 | |
| chr1:154,982,968–154,983,632 | 46.5 kb | Distal (>10kb) Multiome | 693 | |
| chr1:154,998,961–155,004,423 | 62.6 kb | Distal (>10kb) Multiome | 1210 | |
| chr1:155,017,084–155,017,941 | 80.8 kb | Distal (>10kb) Multiome | 1003 | |
| chr1:155,050,292–155,052,078 | 114.5 kb | Distal (>10kb) Multiome | 948 | |
| chr1:155,061,415–155,064,552 | 127.2 kb | Distal (>10kb) Multiome | 860 | |
| chr1:155,070,748–155,071,423 | 134.4 kb | Distal (>10kb) Multiome | 542 | |
| chr1:155,078,524–155,079,535 | 142.1 kb | Distal (>10kb) Multiome | 397 | |
| chr1:155,079,852–155,081,529 | 144.2 kb | Distal (>10kb) Multiome | 539 | |
| chr1:155,084,373–155,086,501 | 148.3 kb | Distal (>10kb) Multiome | 865 | |
| chr1:155,091,315–155,091,900 | 154.9 kb | Distal (>10kb) Multiome | 594 | |
| chr1:155,126,247–155,126,903 | 189.7 kb | Distal (>10kb) Multiome | 776 | |
| chr1:155,127,607–155,128,120 | 191.1 kb | Distal (>10kb) Multiome | 578 | |
| chr1:155,135,100–155,136,750 | 199.1 kb | Distal (>10kb) Multiome | 938 | |
| chr1:155,166,847–155,168,170 | 231.1 kb | Distal (>10kb) Multiome | 622 | |
| chr1:155,172,629–155,174,979 | 236.6 kb | Distal (>10kb) Multiome | 903 | |
| chr1:155,192,921–155,194,099 | 256.9 kb | Distal (>10kb) Multiome | 755 | |
| chr1:155,194,230–155,195,403 | 258.2 kb | Distal (>10kb) Multiome | 753 | |
| chr1:155,196,127–155,196,592 | 259.7 kb | Distal (>10kb) Multiome | 97 | |
| chr1:155,207,822–155,209,789 | 272.3 kb | Distal (>10kb) Multiome | 826 | |
| chr1:155,226,522–155,227,197 | 289.9 kb | Distal (>10kb) Multiome | 600 | |
| chr1:155,227,312–155,228,116 | 290.9 kb | Distal (>10kb) Multiome | 688 |
Genomic view of the PMVK 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.