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Gene Review

EBP  -  emopamil binding protein (sterol isomerase)

Homo sapiens

Synonyms: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase, CDPX2, CHO2, CPX, CPXD, ...
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Disease relevance of EBP


Psychiatry related information on EBP

  • Furthermore, the 3T C/EBP site I was not found in brain-derived LTRs of patients without HIV-1-associated dementia (HIVD), but was found in increasing numbers in brain-derived LTRs from patients diagnosed with HIVD [5].
  • As the field continues to mature, energized by the challenges to develop treatment in more innovative ways and to disseminate EBP, the potential for improving child mental health is strong [6].
  • Enhancing the EBP repertoire of substance abuse counselors: A commentary on Kerwin, Walker-Smith, and Kirby [7].

High impact information on EBP

  • C/EBP-related transcription factors regulate the balance between cell proliferation and mitotic growth arrest during terminal differentiation [8].
  • Using SSCP analysis and sequencing of genomic DNA, we found EBP mutations in all probands [1].
  • The phenotype in CDPX2 females ranges from stillborn to mildly affected individuals identified in adulthood [1].
  • Our results indicate that defects in sterol-delta8-isomerase cause CDPX2 and suggest a role for sterols in bone development [1].
  • Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. [9].

Chemical compound and disease context of EBP


Biological context of EBP


Anatomical context of EBP


Associations of EBP with chemical compounds


Physical interactions of EBP

  • We conclude that c-Rel((1-300)) binding to C/EBPbeta increases the affinity of C/EBPbeta for the C/EBP binding site at -53 on the CRP promoter, and that the transactivation domain of c-Rel is not necessary for this effect, which depends on protein: protein contacts with C/EBPbeta [25].

Other interactions of EBP

  • Nine out of ten amino acid residues essential for catalytic activity of EBP were conserved in EBPL [15].
  • Indeed, while competitive experiments indicated that EBP prevails in mediating SR31747A antiproliferative activity, an analysis of the expression of both receptors indicated that the cellular sensitivity to SR31747A is not correlated with either EBP or SR-BP expression [26].
  • Inhibition of Tax-mediated transactivation of the HTLV-1 LTR was co-activator-independent, did not require C/EBP binding to the Tax-responsive elements, and may involve heterodimerization with CREB factors [2].
  • These findings were strikingly similar to the IL-6 promoter, where IL-17-mediated regulation of both NF-kappaB and C/EBP is essential [27].
  • The C/EBP homologous protein CHOP (GADD153) is an inhibitor of Wnt/TCF signals [28].

Analytical, diagnostic and therapeutic context of EBP


  1. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Braverman, N., Lin, P., Moebius, F.F., Obie, C., Moser, A., Glossmann, H., Wilcox, W.R., Rimoin, D.L., Smith, M., Kratz, L., Kelley, R.I., Valle, D. Nat. Genet. (1999) [Pubmed]
  2. CCAAT/enhancer-binding proteins modulate human T cell leukemia virus type 1 long terminal repeat activation. Grant, C., Nonnemacher, M., Jain, P., Pandya, D., Irish, B., Williams, S.C., Wigdahl, B. Virology (2006) [Pubmed]
  3. CCAAT/enhancer-binding protein-d is induced in mesangial area during the early stages of anti-Thy1.1 glomerulonephritis and regulates cell proliferation and inflammatory gene expression in cultured rat mesangial cells. Miyoshi, K., Okura, T., Fukuoka, T., Higaki, J. Clin. Exp. Nephrol. (2007) [Pubmed]
  4. Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B. Crossley, M., Brownlee, G.G. Nature (1990) [Pubmed]
  5. Structural and functional evolution of human immunodeficiency virus type 1 long terminal repeat CCAAT/enhancer binding protein sites and their use as molecular markers for central nervous system disease progression. Hogan, T.H., Stauff, D.L., Krebs, F.C., Gartner, S., Quiterio, S.J., Wigdahl, B. J. Neurovirol. (2003) [Pubmed]
  6. Children and evidence-based practice. Burns, B.J. Psychiatr. Clin. North Am. (2003) [Pubmed]
  7. Enhancing the EBP repertoire of substance abuse counselors: A commentary on Kerwin, Walker-Smith, and Kirby. Horvatich, P.K. Journal of substance abuse treatment. (2006) [Pubmed]
  8. McBindall--a better name for CCAAT/enhancer binding proteins? McKnight, S.L. Cell (2001) [Pubmed]
  9. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Derry, J.M., Gormally, E., Means, G.D., Zhao, W., Meindl, A., Kelley, R.I., Boyd, Y., Herman, G.E. Nat. Genet. (1999) [Pubmed]
  10. Impaired cyclic AMP-dependent phosphorylation renders CREB a repressor of C/EBP-induced transcription of the somatostatin gene in an insulinoma cell line. Vallejo, M., Gosse, M.E., Beckman, W., Habener, J.F. Mol. Cell. Biol. (1995) [Pubmed]
  11. Prostaglandin E(2)-mediated activation of HIV-1 long terminal repeat transcription in human T cells necessitates CCAAT/enhancer binding protein (C/EBP) binding sites in addition to cooperative interactions between C/EBPbeta and cyclic adenosine 5'-monophosphate response element binding protein. Dumais, N., Bounou, S., Olivier, M., Tremblay, M.J. J. Immunol. (2002) [Pubmed]
  12. Role of CAAT-enhancer binding protein isoforms in the cytokine regulation of acute-phase plasma protein genes. Baumann, H., Morella, K.K., Campos, S.P., Cao, Z., Jahreis, G.P. J. Biol. Chem. (1992) [Pubmed]
  13. Interleukin-10 induces uteroglobin-related protein (UGRP) 1 gene expression in lung epithelial cells through homeodomain transcription factor T/EBP/NKX2.1. Srisodsai, A., Kurotani, R., Chiba, Y., Sheikh, F., Young, H.A., Donnelly, R.P., Kimura, S. J. Biol. Chem. (2004) [Pubmed]
  14. C/EBP alpha and beta mimic retinoic acid activation of IGFBP-5 in neuroblastoma cells by a mechanism independent from binding to their site. Cesi, V., Giuffrida, M.L., Vitali, R., Tanno, B., Mancini, C., Calabretta, B., Raschellà, G. Exp. Cell Res. (2005) [Pubmed]
  15. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. Moebius, F.F., Fitzky, B.U., Wietzorrek, G., Haidekker, A., Eder, A., Glossmann, H. Biochem. J. (2003) [Pubmed]
  16. Insulin-like growth factor-I augments interleukin-8 promoter activity through induction of activator protein-1 complex formation. Kooijman, R., Coppens, A., Van den Keybus, C. Int. J. Biochem. Cell Biol. (2006) [Pubmed]
  17. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Has, C., Bruckner-Tuderman, L., Müller, D., Floeth, M., Folkers, E., Donnai, D., Traupe, H. Hum. Mol. Genet. (2000) [Pubmed]
  18. Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome. Becker, K., Csikós, M., Horváth, A., Kárpáti, S. Exp. Dermatol. (2001) [Pubmed]
  19. Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. Hanner, M., Moebius, F.F., Weber, F., Grabner, M., Striessnig, J., Glossmann, H. J. Biol. Chem. (1995) [Pubmed]
  20. Transcriptional regulation of the endoplasmic reticulum stress gene chop in pancreatic insulin-producing cells. Pirot, P., Ortis, F., Cnop, M., Ma, Y., Hendershot, L.M., Eizirik, D.L., Cardozo, A.K. Diabetes (2007) [Pubmed]
  21. Adipocyte differentiation and leptin expression. Hwang, C.S., Loftus, T.M., Mandrup, S., Lane, M.D. Annu. Rev. Cell Dev. Biol. (1997) [Pubmed]
  22. Antagonism between C/EBPbeta and FOG in eosinophil lineage commitment of multipotent hematopoietic progenitors. Querfurth, E., Schuster, M., Kulessa, H., Crispino, J.D., Döderlein, G., Orkin, S.H., Graf, T., Nerlov, C. Genes Dev. (2000) [Pubmed]
  23. GADD153 mediates celecoxib-induced apoptosis in cervical cancer cells. Kim, S.H., Hwang, C.I., Park, W.Y., Lee, J.H., Song, Y.S. Carcinogenesis (2006) [Pubmed]
  24. Doxazosin induces activation of GADD153 and cleavage of focal adhesion kinase in cardiomyocytes en route to apoptosis. Eiras, S., Fernández, P., Piñeiro, R., Iglesias, M.J., González-Juanatey, J.R., Lago, F. Cardiovasc. Res. (2006) [Pubmed]
  25. The interaction of C-Rel with C/EBPbeta enhances C/EBPbeta binding to the C-reactive protein gene promoter. Cha-Molstad, H., Young, D.P., Kushner, I., Samols, D. Mol. Immunol. (2007) [Pubmed]
  26. SR31747A is a sigma receptor ligand exhibiting antitumoural activity both in vitro and in vivo. Berthois, Y., Bourrié, B., Galiègue, S., Vidal, H., Carayon, P., Martin, P.M., Casellas, P. Br. J. Cancer (2003) [Pubmed]
  27. Identification of common transcriptional regulatory elements in interleukin-17 target genes. Shen, F., Hu, Z., Goswami, J., Gaffen, S.L. J. Biol. Chem. (2006) [Pubmed]
  28. The C/EBP homologous protein CHOP (GADD153) is an inhibitor of Wnt/TCF signals. Horndasch, M., Lienkamp, S., Springer, E., Schmitt, A., Pavenstädt, H., Walz, G., Gloy, J. Oncogene (2006) [Pubmed]
  29. Regulation of the human oxytocin receptor by nuclear factor-kappaB and CCAAT/enhancer-binding protein-beta. Terzidou, V., Lee, Y., Lindström, T., Johnson, M., Thornton, S., Bennett, P.R. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  30. Tumor necrosis factor-induced reversal of adipocytic phenotype of 3T3-L1 cells is preceded by a loss of nuclear CCAAT/enhancer binding protein (C/EBP). Ron, D., Brasier, A.R., McGehee, R.E., Habener, J.F. J. Clin. Invest. (1992) [Pubmed]
  31. Identification of a C/EBP-Rel complex in avian lymphoid cells. Diehl, J.A., Hannink, M. Mol. Cell. Biol. (1994) [Pubmed]
  32. Chromatin immunoprecipitation (ChIP) studies indicate a role for CCAAT enhancer binding proteins alpha and epsilon (C/EBP alpha and C/EBP epsilon ) and CDP/cut in myeloid maturation-induced lactoferrin gene expression. Khanna-Gupta, A., Zibello, T., Sun, H., Gaines, P., Berliner, N. Blood (2003) [Pubmed]
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