1h6f

Structural highlights

Disease

TBX3_HUMAN Ulnar-mammary syndrome. The disease is caused by variants affecting the gene represented in this entry.

Function

TBX3_HUMAN Transcriptional repressor involved in developmental processes (PubMed:10468588). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749). Probably plays a role in limb pattern formation (PubMed:10468588). Required for mammary placode induction, and maintenance of the mammary buds during development (By similarity). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2 (By similarity). Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537).[UniProtKB:P70324]^{[1] [2] [3]}

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

• Brachyury
• T-box proteins

References

1. ↑ He Ml, Wen L, Campbell CE, Wu JY, Rao Y. Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10212-7. PMID:10468588 doi:10.1073/pnas.96.18.10212
2. ↑ Lingbeek ME, Jacobs JJ, van Lohuizen M. The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator. J Biol Chem. 2002 Jul 19;277(29):26120-7. PMID:12000749 doi:10.1074/jbc.M200403200
3. ↑ Martin N, Benhamed M, Nacerddine K, Demarque MD, van Lohuizen M, Dejean A, Bischof O. Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence. EMBO J. 2012 Jan 4;31(1):95-109. PMID:22002537 doi:10.1038/emboj.2011.370
4. ↑ Coll M, Seidman JG, Muller CW. Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. Structure. 2002 Mar;10(3):343-56. PMID:12005433