TBOXDomain first found in the mice T locus (Brachyury) protein | |
|---|---|
| SMART ACC: | SM000425 |
| Description: | - |
| InterPro ACC: | IPR046360 |
| InterPro abstract: | This is the highly conserved DNA-binding domain of T-box transcription factors. 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, for differentiation and organogenesis [ PUBMED:12093383 ] and also … expand |
| GO process: | regulation of DNA-templated transcription (GO:0006355) |
| GO function: | RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity (GO:0003700) |
| Family alignment: | View the Family alignment or the Alignment consensus sequence |
| There are 8 800 TBOX domains in 8 777 proteins in SMART's NRDB database. | |
Taxonomic distribution of proteins containing TBOX domains
The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing TBOX domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.
Predicted cellular role
| Binding / catalysis: | DNA-binding |
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Relevant references for this domain
Primary literature for the TBOX domain is listed below. Automatically-derived, secondary literature is also available.
Disease genes where sequence variants are found in this domain
UniRef sequences and OMIM curated human diseases associated with missense mutations within the TBOX domain.
| Protein | Description | Disease / phenotype |
|---|---|---|
| TBX5_HUMAN | OMIM:601620 : Holt-Oram syndrome | |
| OMIM:142900 : no description | ||
| TBX3_HUMAN | OMIM:601621 : Ulnar-mammary syndrome | |
| OMIM:181450 : no description |
KEGG pathways involving proteins which contain this domain
This information is based on the mapping of SMART genomic protein database to KEGG orthologous groups. Percentages are related to the number of proteins containing a TBOX domain which could be assigned to a KEGG orthologous group, and not all proteins containing TBOX domains. Please note that proteins can be included in multiple pathways, ie. the numbers below will not add to 100%.