Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ACTN1. 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 = ACTN1 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 ACTN1, 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 |
|---|---|---|---|---|
| chr14:68,762,791–68,763,528 | 216.1 kb | Distal (>10kb) Multiome | 389 | |
| chr14:68,790,871–68,793,970 | 186.0 kb | Distal (>10kb) Multiome | 866 | |
| chr14:68,794,853–68,797,758 | 183.2 kb | Distal (>10kb) Multiome | 1023 | |
| chr14:68,816,186–68,816,983 | 162.6 kb | Distal (>10kb) Multiome | 816 | |
| chr14:68,862,998–68,863,526 | 116.0 kb | Distal (>10kb) Multiome | 296 | |
| chr14:68,937,585–68,939,538 | 40.6 kb | Distal (>10kb) Multiome HiCAR | 580 | |
| chr14:68,977,829–68,980,593 | 128 bp | At TSS Multiome | 919 | |
| chr14:68,987,841–68,988,043 | 8.5 kb | Proximal (<10kb) | 74 | |
| chr14:69,050,256–69,051,065 | 71.4 kb | Distal (>10kb) Multiome HiCAR | 105 | |
| chr14:69,129,353–69,129,859 | 150.2 kb | Distal (>10kb) Multiome | 260 | |
| chr14:69,149,737–69,150,445 | 170.8 kb | Distal (>10kb) Multiome | 70 | |
| chr14:69,151,308–69,153,780 | 172.3 kb | Distal (>10kb) Multiome | 936 | |
| chr14:69,191,332–69,192,132 | 212.3 kb | Distal (>10kb) Multiome | 977 | |
| chr14:69,259,475–69,261,593 | 280.5 kb | Distal (>10kb) Multiome | 477 |
Genomic view of the ACTN1 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.