Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
Transcription factors with Perturb-seq knockdown data for GCLC. 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 = GCLC 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 GCLC, 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 |
|---|---|---|---|---|
| chr6:53,347,548–53,349,468 | 196.9 kb | Distal (>10kb) Multiome | 976 | |
| chr6:53,358,501–53,360,085 | 185.6 kb | Distal (>10kb) Multiome | 1019 | |
| chr6:53,369,414–53,370,641 | 175.1 kb | Distal (>10kb) Multiome | 168 | |
| chr6:53,495,283–53,496,107 | 49.3 kb | Distal (>10kb) Multiome | 93 | |
| chr6:53,542,102–53,543,184 | 2.4 kb | Proximal (<10kb) Multiome | 162 | |
| chr6:53,543,445–53,545,523 | 73 bp | At TSS Multiome | 1007 | |
| chr6:53,547,468–53,548,755 | 3.1 kb | Proximal (<10kb) Multiome | 1074 | |
| chr6:53,651,237–53,652,543 | 107.0 kb | Distal (>10kb) Multiome HiCAR | 1006 | |
| chr6:53,665,495–53,665,968 | 120.8 kb | Distal (>10kb) Multiome | 132 | |
| chr6:53,793,294–53,796,553 | 249.9 kb | Distal (>10kb) Multiome | 1032 | |
| chr6:53,810,805–53,812,249 | 266.4 kb | Distal (>10kb) Multiome | 360 |
Genomic view of the GCLC 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.