This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MCCC1. 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 = MCCC1 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 MCCC1, 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 |
|---|---|---|---|---|
| chr3:182,979,737–182,981,250 | 119.0 kb | Distal (>10kb) Multiome | 562 | |
| chr3:183,009,852–183,010,416 | 89.5 kb | Distal (>10kb) Multiome | 225 | |
| chr3:183,098,895–183,099,840 | 61 bp | At TSS Multiome | 915 | |
| chr3:183,103,253–183,104,184 | 3.7 kb | Proximal (<10kb) | 15 | |
| chr3:183,113,896–183,115,137 | 14.7 kb | Distal (>10kb) Multiome | 114 | |
| chr3:183,115,986–183,116,533 | 16.7 kb | Distal (>10kb) Multiome | 294 | |
| chr3:183,122,434–183,123,139 | 23.3 kb | Distal (>10kb) Multiome | 170 | |
| chr3:183,162,396–183,163,145 | 63.2 kb | Distal (>10kb) Multiome | 469 | |
| chr3:183,178,821–183,179,763 | 79.7 kb | Distal (>10kb) Multiome | 364 | |
| chr3:183,253,013–183,254,897 | 154.8 kb | Distal (>10kb) Multiome | 529 | |
| chr3:183,263,894–183,264,916 | 164.9 kb | Distal (>10kb) Multiome | 100 | |
| chr3:183,265,177–183,265,699 | 165.9 kb | Distal (>10kb) Multiome | 111 |
Genomic view of the MCCC1 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.