TBX1 Gene Summary [Human]
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBX1 |
| Official Name | T-box transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:11592] |
| Ensembl ID | ENSG00000184058 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 1 |
| Synonyms | brachyury, CAFS, CATCH22, CTHM, DGCR, DGS, DORV, nmf219, T-box 1, T-box transcription factor 1, TBX1C, TGA, VCF, VCFS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TBX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- T-box
- double-stranded DNA binding
- nucleic acid binding
- DNA-binding domain of the T-box transcription factor family
- protein homodimerization
- protein binding
- sequence-specific DNA binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- head and neck neoplasia
- conotruncal anomaly face syndrome
- adenoid cystic carcinoma
- DiGeorge syndrome
- KBG syndrome
- prostatic carcinoma
- prostate cancer
- hypoplasia
- double outlet right ventricle
role in cell
- expression in
- proliferation
- signaling in
- apoptosis
- migration
- formation
- differentiation
- depletion
- transition
- specification
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of mesenchymal cell apoptotic process
- anterior/posterior pattern specification
- muscle cell fate commitment
- mesoderm development
- blood vessel morphogenesis
- tongue morphogenesis
- face morphogenesis
- sensory perception of sound
- heart morphogenesis
- enamel mineralization
- positive regulation of transcription, DNA-dependent
- lymph vessel development
- cell fate specification
- positive regulation of epithelial cell proliferation
- cochlea morphogenesis
- artery morphogenesis
- pattern specification process
- positive regulation of mesenchymal cell proliferation
- muscle organ morphogenesis
- pharyngeal system development
- epithelial cell differentiation
- aorta morphogenesis
- neural crest cell migration
- ear morphogenesis
- inner ear morphogenesis
- cell proliferation
- soft palate development
- coronary artery morphogenesis
- positive regulation of cell proliferation
- outflow tract morphogenesis
- outer ear morphogenesis
- middle ear morphogenesis
- odontogenesis of dentin-containing tooth
- positive regulation of transcription from RNA polymerase II promoter
- thymus development
- mesenchymal cell apoptotic process
- outflow tract septum morphogenesis
- heart development
- retinoic acid receptor signaling pathway
- blood vessel development
- angiogenesis
- negative regulation of cell differentiation
- somatic stem cell maintenance
- social behavior
- muscle tissue morphogenesis
- cellular response to fibroblast growth factor stimulus
- embryonic cranial skeleton morphogenesis
- vagus nerve morphogenesis
- positive regulation of MAPK cascade
- determination of left/right symmetry
- parathyroid gland development
- embryonic viscerocranium morphogenesis
- regulation of transcription from RNA polymerase II promoter
- muscle organ development
- thyroid gland development
- cellular response to retinoic acid
- semicircular canal morphogenesis
- positive regulation of protein phosphorylation
- regulation of organ morphogenesis
- positive regulation of tongue muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- protein homodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity