DNA-binding domain of T-box transcription factor 1 and 10, and related T-box proteifactors
This subfamily includes TBX1 and TBX10. TBX1 is a T-box transcription factor which plays an important role in heart development and has been implicated in DiGeorge or 22q11.2 deletion syndrome. This syndrome is associated with various types of cardiac outflow tract (OFT) and vascular defects. Wnt5a is regulated by TBX1 in the second heart field (SHF). TBX1 is required to maintain the integrity of extracellular matrix-cell interactions in the SHF and this interaction is critical for cardiac (OFT) development. TBX10 is a putative T-box transcription factor. Diseases associated with TBX10 include Isolated Cleft Lip and Cleft Lip/cleft lip with or without cleft palate. This subfamily belongs to the T-box family of transcription factors which play a multitude of diverse functions throughout development. The founding member of the T-box family is Brachyury (also known as TBXT, or T). T-box family members share a conserved DNA-binding domain (T-box) which binds DNA in a sequence-specific manner. Common features shared by T-box family members are DNA-binding and transcriptional regulatory activity, a role in development, and conserved expression patterns.
Feature 1:DNA binding site [nucleic acid binding site]
Evidence:
Comment:two TBX1 T-box monomers dimerize upon DNA binding; they appear to bind as non-associating monomers, the T-box dimer is kept in register by the DNA
Structure:4A04; Homo sapiens TBX1 monomer binds DNA, contacts at 4A.