T-box proteins

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Human TBX1 complex with DNA, 4a04

Genes involved in limb bud formation and development are a subset of T-box proteins: T, TBX2, TBX3, TBX5, TBX15 and TBX18.

Contents

T-box family members in Homo sapiens

T subfamily
Members Notes Linked diseases
T Crystal structure solved
TBX19
TBX1 subfamily
Members Notes Linked diseases
TBX1 Crystal structure solved (4a04) DiGeorge syndrome
TBX10
TBX15 Cousin syndrome
TBX18
TBX20
TBX22 Truncated T-box domain predicted not to bind DNA Cleft palate with ankyloglossia
TBX2 subfamily
Members Notes Linked diseases
TBX2 Mutation of Arg122 destroys DNA binding. Acts as a repressor. TRP-1 promoter is a possible binding site. Amplified in certain types of breast cancer.
TBX3 Crystal structure solved Ulnar-mammary syndrome
TBX4 Small patella syndrome
TBX5 Crystal structure solved Holt-Oram syndrome
TBX6 subfamily
Members Notes Linked diseases
TBX6
MGA Also contains leucine zipper domain
TBR subfamily
Members Notes Linked diseases
TBR1
EOMES
TBX21

3D structures of T-box protein

4a04 – hTBX1 T-box domain + DNA - human
1h6f - hTBX3 T-box domain + DNA
2x6u, 5bqd – hTBX5 T-box domain
2x6v – hTBX5 T-box domain + DNA
4s0h, 5flv - hTBX5 T-box domain + homebox protein + DNA
5t1j – TBX21 T-box domain + DNA - mouse

Additional Resources

For additional information, see: Transcription and RNA Processing

References

  • Current Opinion in Genetics & Development 1997, 7:474-480;
  • Gene 258 (2000) 15–29;
  • American Journal of Medical Genetics Part A 140A:1407–1413 (2006);
  • Genome Biology 2002, 3(6):reviews3008.1–3008.7;

Proteopedia Page Contributors and Editors (what is this?)

Michal Harel, Helen Ginn, Alexander Berchansky, David Canner, Joel L. Sussman

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