Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for TUBA1A. 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 = TUBA1A 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 TUBA1A, 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 |
|---|---|---|---|---|
| chr12:48,890,671–48,891,380 | 298.1 kb | Distal (>10kb) Multiome | 517 | |
| chr12:48,924,659–48,925,688 | 264.2 kb | Distal (>10kb) Multiome | 413 | |
| chr12:48,956,252–48,957,974 | 232.6 kb | Distal (>10kb) Multiome | 831 | |
| chr12:48,978,055–48,978,819 | 210.8 kb | Distal (>10kb) Multiome | 360 | |
| chr12:48,980,647–48,981,153 | 208.2 kb | Distal (>10kb) Multiome | 259 | |
| chr12:48,997,612–48,998,829 | 190.8 kb | Distal (>10kb) Multiome | 620 | |
| chr12:49,018,007–49,019,184 | 170.4 kb | Distal (>10kb) Multiome | 899 | |
| chr12:49,059,883–49,061,347 | 128.3 kb | Distal (>10kb) Multiome | 1060 | |
| chr12:49,069,381–49,070,589 | 119.1 kb | Distal (>10kb) Multiome | 804 | |
| chr12:49,088,153–49,088,744 | 100.6 kb | Distal (>10kb) Multiome | 473 | |
| chr12:49,109,990–49,111,248 | 78.2 kb | Distal (>10kb) Multiome | 693 | |
| chr12:49,129,851–49,132,062 | 58.7 kb | Distal (>10kb) Multiome | 1233 | |
| chr12:49,188,266–49,189,371 | 19 bp | At TSS Multiome | 676 | |
| chr12:49,228,702–49,229,259 | 39.8 kb | Distal (>10kb) Multiome HiCAR | 64 | |
| chr12:49,234,459–49,235,140 | 45.6 kb | Distal (>10kb) Multiome | 786 | |
| chr12:49,264,393–49,265,769 | 75.9 kb | Distal (>10kb) Multiome | 1032 | |
| chr12:49,297,237–49,297,902 | 108.5 kb | Distal (>10kb) Multiome | 330 | |
| chr12:49,322,593–49,323,536 | 134.0 kb | Distal (>10kb) Multiome | 647 | |
| chr12:49,336,785–49,337,369 | 148.1 kb | Distal (>10kb) Multiome | 482 | |
| chr12:49,341,800–49,343,265 | 153.5 kb | Distal (>10kb) Multiome | 631 | |
| chr12:49,347,124–49,348,156 | 158.7 kb | Distal (>10kb) Multiome | 790 | |
| chr12:49,366,450–49,368,011 | 178.2 kb | Distal (>10kb) Multiome | 868 |
Genomic view of the TUBA1A 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.