2wx0

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Template:STRUCTURE 2wx0

Contents

TAB2 NZF DOMAIN IN COMPLEX WITH LYS63-LINKED DI-UBIQUITIN, P21

Template:ABSTRACT PUBMED 19935683

Disease

[TAB2_HUMAN] Defects in TAB2 are the cause of congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863]. It is a disease characterized by congenital developmental abnormalities involving structures of the heart. Clinical features include left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. Note=A chromosomal aberration involving TAB2 has been found in a family with congenital heart disease. Translocation t(2;6)(q21;q25).[1]

Function

[TAB2_HUMAN] Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of 'Lys-63'-linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at 'Thr-187'. Involved in heart development.[2][3][4]

About this Structure

2wx0 is a 6 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Kulathu Y, Akutsu M, Bremm A, Hofmann K, Komander D. Two-sided ubiquitin binding explains specificity of the TAB2 NZF domain. Nat Struct Mol Biol. 2009 Dec;16(12):1328-30. Epub 2009 Nov 22. PMID:19935683 doi:10.1038/nsmb.1731
  1. ↑ Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11;86(6):839-49. doi: 10.1016/j.ajhg.2010.04.011. Epub, 2010 May 20. PMID:20493459 doi:10.1016/j.ajhg.2010.04.011
  2. ↑ Takaesu G, Kishida S, Hiyama A, Yamaguchi K, Shibuya H, Irie K, Ninomiya-Tsuji J, Matsumoto K. TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway. Mol Cell. 2000 Apr;5(4):649-58. PMID:10882101
  3. ↑ Wang C, Deng L, Hong M, Akkaraju GR, Inoue J, Chen ZJ. TAK1 is a ubiquitin-dependent kinase of MKK and IKK. Nature. 2001 Jul 19;412(6844):346-51. PMID:11460167 doi:10.1038/35085597
  4. ↑ Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11;86(6):839-49. doi: 10.1016/j.ajhg.2010.04.011. Epub, 2010 May 20. PMID:20493459 doi:10.1016/j.ajhg.2010.04.011

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