The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
Transcription factors with Perturb-seq knockdown data for CNTNAP1. 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 = CNTNAP1 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 CNTNAP1, 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 |
|---|---|---|---|---|
| chr17:42,673,584–42,674,462 | 8.1 kb | Proximal (<10kb) | 296 | |
| chr17:42,674,847–42,675,579 | 7.0 kb | Proximal (<10kb) | 194 | |
| chr17:42,676,055–42,678,790 | 3.7 kb | Proximal (<10kb) | 1070 | |
| chr17:42,679,005–42,680,519 | 2.0 kb | Proximal (<10kb) | 654 | |
| chr17:42,681,360–42,681,672 | 857 bp | At TSS | 170 | |
| chr17:42,682,428–42,682,628 | at TSS | At TSS | 491 | |
| chr17:42,682,736–42,683,400 | 206 bp | At TSS | 480 |
Genomic view of the CNTNAP1 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.