The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
Transcription factors with Perturb-seq knockdown data for L1CAM. 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 = L1CAM 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 L1CAM, 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 |
|---|---|---|---|---|
| chrX:153,598,511–153,599,722 | 276.6 kb | Distal (>10kb) Multiome | 459 | |
| chrX:153,609,905–153,610,354 | 265.8 kb | Distal (>10kb) Multiome | 404 | |
| chrX:153,687,144–153,688,247 | 188.1 kb | Distal (>10kb) Multiome | 201 | |
| chrX:153,723,829–153,725,285 | 151.2 kb | Distal (>10kb) Multiome | 620 | |
| chrX:153,726,395–153,727,168 | 148.9 kb | Distal (>10kb) Multiome | 529 | |
| chrX:153,793,808–153,795,045 | 81.4 kb | Distal (>10kb) Multiome | 733 | |
| chrX:153,875,415–153,875,856 | 166 bp | At TSS Multiome | 847 | |
| chrX:153,878,887–153,879,684 | 3.4 kb | Proximal (<10kb) Multiome | 235 | |
| chrX:153,886,109–153,886,486 | at TSS | At TSS | 138 | |
| chrX:153,927,955–153,928,728 | 52.6 kb | Distal (>10kb) Multiome | 711 | |
| chrX:153,934,763–153,935,658 | 59.3 kb | Distal (>10kb) Multiome | 446 | |
| chrX:153,970,913–153,973,065 | 96.6 kb | Distal (>10kb) Multiome | 857 | |
| chrX:154,097,040–154,098,161 | 222.0 kb | Distal (>10kb) Multiome | 537 | |
| chrX:154,136,648–154,137,146 | 261.0 kb | Distal (>10kb) Multiome | 391 |
Genomic view of the L1CAM 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.