TBX1 — T-box transcription factor 1
TBX1 belongs to a gene co-expression module in 1 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
TBX1's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Lymphatic endothelial | Lymphangiogenesis ECM endothelial development | ARHGAP18, CEP68, CFI, DIPK2B, EGFL7, ELK3, ELN, FLT4 +10 more | View in SCUBA |
About the gene
| Synonyms | CATCH22, VCF |
|---|---|
| Chromosome | 22: 19756703-19783593 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors |
| Molecular function | Developmental protein, DNA-binding |
| Biological process | Transcription, Transcription regulation |
Function
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.