TBOXDomain first found in the mice T locus (Brachyury) protein
|SMART accession number:||SM00425|
|Interpro abstract (IPR001699):|
Transcription factors of the T-box family are required both for early cell-fate decisions, such as those necessary for formation of the basic vertebrate body plan, and for differentiation and organogenesis [(PUBMED:12093383)]. The T-box is defined as the minimal region within the T-box protein that is both necessary and sufficient for sequence-specific DNA binding, all members of the family so far examined bind to the DNA consensus sequence TCACACCT. The T-box is a relatively large DNA-binding domain, generally comprising about a third of the entire protein (17-26 kDa).
These genes were uncovered on the basis of similarity to the DNA binding domain [(PUBMED:9504043)] of Mus musculus (Mouse) Brachyury (T) gene product, which similarity is the defining feature of the family. The Brachyury gene is named for its phenotype, which was identified 70 years ago as a mutant mouse strain with a short blunted tail. The gene, and its paralogues, have become a well-studied model for the family, and hence much of what is known about the T-box family is derived from the murine Brachyury gene.
Consistent with its nuclear location, Brachyury protein has a sequence-specific DNA-binding activity and can act as a transcriptional regulator [(PUBMED:9503012)]. Homozygous mutants for the gene undergo extensive developmental anomalies, thus rendering the mutation lethal [(PUBMED:9395282)]. The postulated role of Brachyury is as a transcription factor, regulating the specification and differentiation of posterior mesoderm during gastrulation in a dose-dependent manner [(PUBMED:9504043)].
T-box proteins tend to be expressed in specific organs or cell types, especially during development, and they are generally required for the development of those tissues, for example, Brachyury is expressed in posterior mesoderm and in the developing notochord, and it is required for the formation of these cells in mice [(PUBMED:9196325)].
|GO process:||regulation of transcription, DNA-templated (GO:0006355)|
|GO component:||nucleus (GO:0005634)|
|GO function:||sequence-specific DNA binding transcription factor activity (GO:0003700)|
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- Evolution (species in which this domain is found)
- Cellular role (predicted cellular role)
- Literature (relevant references for this domain)
- Disease (disease genes where sequence variants are found in this domain)
- Structure (3D structures containing this domain)
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