This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for NT5C3A. 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 = NT5C3A 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 NT5C3A, 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 |
|---|---|---|---|---|
| chr7:32,891,014–32,892,877 | 170.7 kb | Distal (>10kb) Multiome | 975 | |
| chr7:32,905,220–32,906,208 | 157.1 kb | Distal (>10kb) Multiome | 394 | |
| chr7:32,942,280–32,943,451 | 119.7 kb | Distal (>10kb) Multiome | 800 | |
| chr7:32,956,900–32,958,942 | 105.3 kb | Distal (>10kb) Multiome | 933 | |
| chr7:33,062,109–33,063,556 | 188 bp | At TSS Multiome | 912 | |
| chr7:33,108,633–33,110,110 | 46.7 kb | Distal (>10kb) Multiome | 702 | |
| chr7:33,128,895–33,130,093 | 66.6 kb | Distal (>10kb) Multiome | 726 |
Genomic view of the NT5C3A 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.