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Gene Review

TBL1X  -  transducin (beta)-like 1X-linked

Homo sapiens

Synonyms: EBI, F-box-like/WD repeat-containing protein TBL1X, SMAP55, TBL1, Transducin beta-like protein 1X, ...
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Disease relevance of TBL1X


Psychiatry related information on TBL1X


High impact information on TBL1X

  • Tbl1 gene deletion in embryonic stem cells severely impairs PPARgamma-induced adipogenic differentiation, indicating that TBL1 function is also biologically indispensable for specific nuclear receptor-mediated gene activation events [7].
  • A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafness [8].
  • This complex contains transducin beta-like protein 1 (TBL1), whose gene is mutated in human sensorineural deafness [8].
  • By using specific small interference RNAs (siRNAs), we demonstrate that HDAC3 is essential, whereas TBL1 and TBLR1 are functionally redundant but essential for repression by unliganded thyroid hormone receptor [9].
  • However, unlike OA1, TBL1 is transcribed from telomere to centromere [1].

Biological context of TBL1X

  • Recently, it has been shown that TBLR1, another homologue whose gene resides on chromosome 3, and TBL1X act as a corepressor/coactivator exchanger for several nuclear receptors and transcription factors [10].
  • To compare the functions of the TBL1 family, we generated a series of expression plasmids for GAL4DBD-fused proteins of the TBL1 family [10].
  • Nucleotide sequence analysis revealed that 48 of these clones were derived from a single novel named EBI [11].
  • A standard genome map data format for the interconnection of genome map databases was defined in collaboration with the EBI [12].
  • The EBI SRS server ( is a free central resource for molecular biology data as well as a reference server for the latest developments in data integration [13].

Anatomical context of TBL1X


Associations of TBL1X with chemical compounds

  • We have examined the effect of MPMAP on the alkylation of tubulin by iodo[14C]acetamide and N,N'-ethylenebis(iodoacetamide) (EBI) [15].
  • After 1,25(OH)2D therapy, Ca2+ increased to 1.16 +/- 0.03 mmol/l in EBI and normalized in NNBI patients (1.25 +/- 0.07 mmol/l) [16].
  • We have studied the effect of intravenous calcitriol [1,25(OH)2D] therapy (1 microgram at the end of each dialysis session) on parathyroid secretory curves of hemodialyzed patients with near-normal basal intact (< 10 pmol/l, n = 7; NNBI) or elevated basal intact (> 10 pmol/l, n = 6; EBI) parathyroid hormone (PTH; iPTH) levels [16].
  • Mean axial stiffness was 2425 N/mm, 2358 N/mm and 2258 N/mm, respectively, for the EBI, Arthrex, and Alaron surgical plates [17].
  • Functional outcome (EBI) was significantly worse in prespecified subgroups of patients: females (OR 1.46, 95% CI 1.08 to 1.98) and subjects receiving low dose tirilazad (OR 1.31, 95% CI 1.03 to 1.67); a non-significant worse outcome was also seen in patients with mild-moderate stroke (OR 1.40, 95% CI 0.99 to 1.98) [18].

Other interactions of TBL1X


Analytical, diagnostic and therapeutic context of TBL1X


  1. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Bassi, M.T., Ramesar, R.S., Caciotti, B., Winship, I.M., De Grandi, A., Riboni, M., Townes, P.L., Beighton, P., Ballabio, A., Borsani, G. Am. J. Hum. Genet. (1999) [Pubmed]
  2. External fixation of pediatric femoral fractures. Davis, T.J., Topping, R.E., Blanco, J.S. Clin. Orthop. Relat. Res. (1995) [Pubmed]
  3. A urochordate putative homolog of human EB1, the protein which binds APC1. Pancer, Z., Cooper, E.L., Müller, W.E. Cancer Lett. (1996) [Pubmed]
  4. Avian forms of cytochrome P450. Walker, C.H. Comp. Biochem. Physiol. C, Pharmacol. Toxicol. Endocrinol. (1998) [Pubmed]
  5. Cytotoxicity induced by Erythrina variegata serine proteinase inhibitors in tumor hematopoietic stem cell lines. Ohba, H., Nishikawa, M., Kimura, M., Yamasaki, N., Moriwaki, S., Itoh, K. Biosci. Biotechnol. Biochem. (1998) [Pubmed]
  6. Impact of external fixation on adolescents: an integrative research review. Patterson, M. Orthopaedic nursing / National Association of Orthopaedic Nurses. (2006) [Pubmed]
  7. A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors. Perissi, V., Aggarwal, A., Glass, C.K., Rose, D.W., Rosenfeld, M.G. Cell (2004) [Pubmed]
  8. A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafness. Guenther, M.G., Lane, W.S., Fischle, W., Verdin, E., Lazar, M.A., Shiekhattar, R. Genes Dev. (2000) [Pubmed]
  9. Purification and functional characterization of the human N-CoR complex: the roles of HDAC3, TBL1 and TBLR1. Yoon, H.G., Chan, D.W., Huang, Z.Q., Li, J., Fondell, J.D., Qin, J., Wong, J. EMBO J. (2003) [Pubmed]
  10. Molecular analysis of TBL1Y, a Y-linked homologue of TBL1X related with X-linked late-onset sensorineural deafness. Yan, H.T., Shinka, T., Kinoshita, K., Sato, Y., Umeno, M., Chen, G., Tsuji, K., Unemi, Y., Yang, X.J., Iwamoto, T., Nakahori, Y. J. Hum. Genet. (2005) [Pubmed]
  11. APC binds to the novel protein EB1. Su, L.K., Burrell, M., Hill, D.E., Gyuris, J., Brent, R., Wiltshire, R., Trent, J., Vogelstein, B., Kinzler, K.W. Cancer Res. (1995) [Pubmed]
  12. The HuGeMap Database: interconnection and visualization of human genome maps. Barillot, E., Pook, S., Guyon, F., Cussat-Blanc, C., Viara, E., Vaysseix, G. Nucleic Acids Res. (1999) [Pubmed]
  13. The EBI SRS server-new features. Zdobnov, E.M., Lopez, R., Apweiler, R., Etzold, T. Bioinformatics (2002) [Pubmed]
  14. Microenvironmental factors involved in the establishment of erythropoiesis in bone marrow. Wilson, J.G., Tavassoli, M. Ann. N. Y. Acad. Sci. (1994) [Pubmed]
  15. The effect of 2-(4-methyl-1-piperazinylmethyl) acrylophenone dihydrochloride on the alkylation of tubulin. Luduena, R.F., Roach, M.C., Trcka, P.P., Mallevais, M.L., MacRae, T. Arch. Biochem. Biophys. (1987) [Pubmed]
  16. Intravenous 1,25(OH)2D therapy increases the intact parathyroid hormone secretion set point in hemodialyzed patients. Brossard, J.H., Roy, L., Lepage, R., Gascon-Barré, M., D'Amour, P. Mineral and electrolyte metabolism. (1997) [Pubmed]
  17. The stability of three commercially available implants used in medial opening wedge high tibial osteotomy. Dorsey, W.O., Miller, B.S., Tadje, J.P., Bryant, C.R. The journal of knee surgery. (2006) [Pubmed]
  18. Tirilazad for acute ischaemic stroke. Bath, P.M., Iddenden, R., Bath, F.J., Orgogozo, J.M. Cochrane database of systematic reviews (Online) (2001) [Pubmed]
  19. Mapplet: a CORBA-based genome map viewer. Jungfer, K., Rodriguez-Tomé, P. Bioinformatics (1998) [Pubmed]
  20. EMBL-Align: a new public nucleotide and amino acid multiple sequence alignment database. Lombard, V., Camon, E.B., Parkinson, H.E., Hingamp, P., Stoesser, G., Redaschi, N. Bioinformatics (2002) [Pubmed]
  21. Initial clinical experience with the new EBI (BARD-XT) flexible coronary stent: acute results and follow-up. Sievert, H., Rohde, S., Ensslen, R., Fach, A., Merle, H., Schräder, R., Spies, H. Catheterization and cardiovascular diagnosis. (1998) [Pubmed]
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