The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for FUCA1. 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 = FUCA1 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 FUCA1, 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 |
|---|---|---|---|---|
| chr1:23,598,114–23,599,073 | 269.7 kb | Distal (>10kb) Multiome | 329 | |
| chr1:23,691,587–23,692,258 | 176.5 kb | Distal (>10kb) Multiome | 876 | |
| chr1:23,742,958–23,744,137 | 124.9 kb | Distal (>10kb) Multiome | 802 | |
| chr1:23,777,908–23,778,814 | 89.9 kb | Distal (>10kb) Multiome | 849 | |
| chr1:23,790,777–23,791,448 | 77.2 kb | Distal (>10kb) Multiome | 637 | |
| chr1:23,799,493–23,801,538 | 67.4 kb | Distal (>10kb) Multiome | 922 | |
| chr1:23,825,075–23,825,633 | 42.8 kb | Distal (>10kb) Multiome | 867 | |
| chr1:23,867,741–23,868,918 | 67 bp | At TSS Multiome | 766 | |
| chr1:23,958,982–23,960,271 | 91.5 kb | Distal (>10kb) Multiome | 1051 | |
| chr1:23,979,815–23,981,031 | 112.1 kb | Distal (>10kb) Multiome | 1078 | |
| chr1:23,998,624–23,999,076 | 130.6 kb | Distal (>10kb) Multiome | 19 | |
| chr1:24,150,246–24,151,570 | 282.4 kb | Distal (>10kb) Multiome | 480 |
Genomic view of the FUCA1 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.