This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
Transcription factors with Perturb-seq knockdown data for PCMT1. 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 = PCMT1 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 PCMT1, 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 |
|---|---|---|---|---|
| chr6:149,545,230–149,546,831 | 203.6 kb | Distal (>10kb) Multiome | 1020 | |
| chr6:149,565,581–149,567,238 | 183.5 kb | Distal (>10kb) Multiome | 1021 | |
| chr6:149,648,112–149,649,264 | 101.0 kb | Distal (>10kb) Multiome | 1051 | |
| chr6:149,708,994–149,710,258 | 40.1 kb | Distal (>10kb) Multiome | 141 | |
| chr6:149,717,353–149,718,457 | 31.7 kb | Distal (>10kb) Multiome | 1074 | |
| chr6:149,746,178–149,746,876 | 3.2 kb | Proximal (<10kb) Multiome | 812 | |
| chr6:149,749,354–149,750,638 | 7 bp | At TSS Multiome | 967 | |
| chr6:149,845,261–149,846,647 | 96.1 kb | Distal (>10kb) Multiome | 234 | |
| chr6:149,863,201–149,865,192 | 113.6 kb | Distal (>10kb) Multiome | 906 | |
| chr6:149,922,648–149,923,559 | 173.4 kb | Distal (>10kb) Multiome | 419 | |
| chr6:149,925,530–149,926,657 | 176.5 kb | Distal (>10kb) Multiome | 390 | |
| chr6:149,941,434–149,942,626 | 192.2 kb | Distal (>10kb) Multiome | 476 | |
| chr6:149,963,109–149,964,540 | 214.1 kb | Distal (>10kb) Multiome | 691 | |
| chr6:150,004,529–150,006,027 | 255.6 kb | Distal (>10kb) Multiome | 798 |
Genomic view of the PCMT1 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.