This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]
Transcription factors with Perturb-seq knockdown data for PABPN1. 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 = PABPN1 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 PABPN1, 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 |
|---|---|---|---|---|
| chr14:23,101,326–23,101,861 | 219.8 kb | Distal (>10kb) Multiome | 83 | |
| chr14:23,154,159–23,154,639 | 167.0 kb | Distal (>10kb) Multiome | 392 | |
| chr14:23,161,040–23,161,530 | 160.1 kb | Distal (>10kb) Multiome | 397 | |
| chr14:23,182,495–23,182,942 | 138.7 kb | Distal (>10kb) Multiome | 139 | |
| chr14:23,237,732–23,238,192 | 83.6 kb | Distal (>10kb) Multiome | 536 | |
| chr14:23,285,641–23,286,830 | 35.2 kb | Distal (>10kb) Multiome | 962 | |
| chr14:23,300,944–23,303,002 | 19.8 kb | Distal (>10kb) Multiome | 1096 | |
| chr14:23,306,324–23,307,321 | 14.7 kb | Distal (>10kb) Multiome | 871 | |
| chr14:23,320,558–23,322,196 | 229 bp | At TSS Multiome | 1090 | |
| chr14:23,328,116–23,328,313 | 6.7 kb | Proximal (<10kb) | 301 | |
| chr14:23,351,817–23,353,063 | 31.4 kb | Distal (>10kb) Multiome HiCAR | 403 | |
| chr14:23,364,202–23,367,105 | 45.0 kb | Distal (>10kb) Multiome | 353 | |
| chr14:23,468,966–23,469,987 | 148.0 kb | Distal (>10kb) Multiome | 955 | |
| chr14:23,493,984–23,494,589 | 172.9 kb | Distal (>10kb) Multiome | 131 | |
| chr14:23,537,253–23,538,372 | 216.1 kb | Distal (>10kb) Multiome | 160 | |
| chr14:23,544,507–23,545,444 | 223.3 kb | Distal (>10kb) Multiome | 308 | |
| chr14:23,550,782–23,552,258 | 230.3 kb | Distal (>10kb) Multiome | 826 | |
| chr14:23,555,640–23,556,485 | 234.6 kb | Distal (>10kb) Multiome | 983 | |
| chr14:23,567,065–23,567,976 | 246.2 kb | Distal (>10kb) Multiome | 855 | |
| chr14:23,575,776–23,576,501 | 254.8 kb | Distal (>10kb) Multiome | 163 | |
| chr14:23,589,018–23,589,481 | 267.7 kb | Distal (>10kb) Multiome | 770 |
Genomic view of the PABPN1 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.