The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NEU1. 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 = NEU1 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 NEU1, 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 |
|---|---|---|---|---|
| chr6:31,580,713–31,581,330 | 281.9 kb | Distal (>10kb) Multiome | 745 | |
| chr6:31,619,744–31,621,435 | 242.4 kb | Distal (>10kb) Multiome | 1127 | |
| chr6:31,651,682–31,653,297 | 210.2 kb | Distal (>10kb) Multiome | 1113 | |
| chr6:31,660,325–31,660,941 | 202.1 kb | Distal (>10kb) Multiome HiCAR | 892 | |
| chr6:31,664,725–31,666,373 | 198.0 kb | Distal (>10kb) Multiome HiCAR | 1039 | |
| chr6:31,682,887–31,683,880 | 179.6 kb | Distal (>10kb) Multiome | 248 | |
| chr6:31,702,816–31,703,520 | 159.6 kb | Distal (>10kb) Multiome | 875 | |
| chr6:31,713,576–31,714,641 | 148.8 kb | Distal (>10kb) Multiome | 171 | |
| chr6:31,728,852–31,730,814 | 132.7 kb | Distal (>10kb) Multiome | 979 | |
| chr6:31,739,236–31,740,741 | 123.0 kb | Distal (>10kb) Multiome | 1043 | |
| chr6:31,766,045–31,766,778 | 96.4 kb | Distal (>10kb) Multiome | 351 | |
| chr6:31,795,097–31,796,366 | 67.0 kb | Distal (>10kb) Multiome | 979 | |
| chr6:31,806,162–31,807,183 | 55.9 kb | Distal (>10kb) Multiome | 947 | |
| chr6:31,814,125–31,815,936 | 48.3 kb | Distal (>10kb) Multiome HiCAR | 822 | |
| chr6:31,818,020–31,818,663 | 44.5 kb | Distal (>10kb) Multiome HiCAR | 280 | |
| chr6:31,821,306–31,822,544 | 40.9 kb | Distal (>10kb) Multiome | 714 | |
| chr6:31,826,770–31,828,135 | 35.4 kb | Distal (>10kb) Multiome | 1000 | |
| chr6:31,834,277–31,835,371 | 28.2 kb | Distal (>10kb) Multiome | 1085 | |
| chr6:31,862,148–31,864,173 | 31 bp | At TSS Multiome | 1118 | |
| chr6:31,896,965–31,898,037 | 34.7 kb | Distal (>10kb) Multiome | 654 | |
| chr6:31,901,114–31,902,643 | 39.3 kb | Distal (>10kb) Multiome | 826 | |
| chr6:31,958,527–31,959,598 | 96.2 kb | Distal (>10kb) Multiome | 953 | |
| chr6:31,971,421–31,972,872 | 109.4 kb | Distal (>10kb) Multiome | 1059 | |
| chr6:32,048,217–32,048,679 | 185.5 kb | Distal (>10kb) Multiome | 611 | |
| chr6:32,087,265–32,088,160 | 224.9 kb | Distal (>10kb) Multiome | 473 | |
| chr6:32,127,621–32,128,720 | 265.4 kb | Distal (>10kb) Multiome | 683 | |
| chr6:32,129,973–32,130,800 | 267.5 kb | Distal (>10kb) Multiome | 717 | |
| chr6:32,144,531–32,145,041 | 281.8 kb | Distal (>10kb) Multiome | 44 | |
| chr6:32,148,431–32,149,344 | 285.9 kb | Distal (>10kb) Multiome | 145 | |
| chr6:32,153,307–32,155,059 | 291.1 kb | Distal (>10kb) Multiome | 908 |
Genomic view of the NEU1 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.