This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GAD1. 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 = GAD1 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 GAD1, 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 |
|---|---|---|---|---|
| chr2:170,253,574–170,254,305 | 563.8 kb | Distal (>10kb) Multiome HiCAR | 175 | |
| chr2:170,263,166–170,264,563 | 553.9 kb | Distal (>10kb) Multiome HiCAR | 489 | |
| chr2:170,324,455–170,325,287 | 492.9 kb | Distal (>10kb) Multiome HiCAR | 406 | |
| chr2:170,530,034–170,531,403 | 287.3 kb | Distal (>10kb) Multiome HiCAR | 587 | |
| chr2:170,696,280–170,697,478 | 120.6 kb | Distal (>10kb) Multiome | 123 | |
| chr2:170,711,360–170,712,724 | 105.7 kb | Distal (>10kb) Multiome | 753 | |
| chr2:170,713,092–170,717,699 | 102.5 kb | Distal (>10kb) Multiome | 1155 | |
| chr2:170,764,641–170,765,221 | 52.8 kb | Distal (>10kb) Multiome | 96 | |
| chr2:170,770,133–170,771,632 | 46.9 kb | Distal (>10kb) Multiome | 841 | |
| chr2:170,812,804–170,813,447 | 2.7 kb | Proximal (<10kb) | 233 | |
| chr2:170,813,589–170,814,073 | 2.0 kb | Proximal (<10kb) | 79 | |
| chr2:170,814,174–170,814,458 | 1.7 kb | Proximal (<10kb) | 248 | |
| chr2:170,814,981–170,816,480 | 1.9 kb | Proximal (<10kb) Multiome | 523 | |
| chr2:170,816,723–170,818,614 | 610 bp | At TSS | 458 | |
| chr2:170,819,935–170,820,669 | 3.8 kb | Proximal (<10kb) | 95 | |
| chr2:170,820,955–170,821,457 | 4.8 kb | Proximal (<10kb) | 120 | |
| chr2:170,822,131–170,822,619 | 6.0 kb | Proximal (<10kb) | 105 | |
| chr2:170,823,170–170,823,953 | 7.1 kb | Proximal (<10kb) | 223 | |
| chr2:170,873,044–170,873,708 | 55.5 kb | Distal (>10kb) Multiome | 509 | |
| chr2:170,917,144–170,918,588 | 100.0 kb | Distal (>10kb) Multiome | 221 | |
| chr2:170,928,198–170,930,434 | 111.4 kb | Distal (>10kb) Multiome | 1135 | |
| chr2:170,973,304–170,974,525 | 155.9 kb | Distal (>10kb) Multiome | 906 |
Genomic view of the GAD1 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.