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Gene Review

DTNBP1  -  dystrobrevin binding protein 1

Homo sapiens

Synonyms: BLOC-1 subunit 8, BLOC1S8, Biogenesis of lysosome-related organelles complex 1 subunit 8, DBND, Dysbindin, ...
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Disease relevance of DTNBP1


Psychiatry related information on DTNBP1


High impact information on DTNBP1


Biological context of DTNBP1


Anatomical context of DTNBP1


Associations of DTNBP1 with chemical compounds


Physical interactions of DTNBP1

  • Dysbindin structural homologue CK1BP is an isoform-selective binding partner of human casein kinase-1 [19].

Regulatory relationships of DTNBP1


Other interactions of DTNBP1

  • On the basis of corrected P-values from single- and multilocus transmission distortion tests our analysis provides no support for a contribution of G72, NRG1 or DTNBP1 in the tested samples [21].
  • The identification of these loci together with advances in genetic technology, especially the characterisation of polymorphisms, the understanding of haplotypes and the development of statistical methods, has lead to the identification of several plausible susceptibility genes, including neuregulin 1, proline dehydrogenase and dysbindin [22].
  • We used a case control design to analyze single nucleotide polymorphisms (SNPs) and insertion/deletion variants affecting AT-rich domains in both the DTNBP1 and JARID2 genes [23].
  • Patients with schizophrenia had statistically significantly reduced dysbindin mRNA levels in multiple layers of the dorsolateral prefrontal cortex, whereas synaptophysin, spinophilin, and cyclophilin mRNA levels were unchanged [8].
  • Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families [24].

Analytical, diagnostic and therapeutic context of DTNBP1

  • On the basis of sequence alignments, CK1BP was a structural homologue of the acidic domain of dysbindin, a component of the dystrophin-associated protein complex and the biogenesis of lysosome-related organelles complex-1 [19].
  • So far, traditional linkage mapping studies have not definitively identified specific disease genes for neuropsychiatric disorders, although some potential candidates have been identified via these methods (e.g. the dysbindin gene in schizophrenia; Straub et al., 2002; Schwab et al., 2003) [25].
  • The enzyme was separated from venom by gel filtration on Sephadex G-100 superfine and chromatography on agarose HPS-7 and phenyl-agarose [26].


  1. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Nazarian, R., Starcevic, M., Spencer, M.J., Dell'Angelica, E.C. Biochem. J. (2006) [Pubmed]
  2. Association of the DTNBP1 locus with schizophrenia in a U.S. population. Funke, B., Finn, C.T., Plocik, A.M., Lake, S., DeRosse, P., Kane, J.M., Kucherlapati, R., Malhotra, A.K. Am. J. Hum. Genet. (2004) [Pubmed]
  3. Genetics of schizophrenia and affective disorders. Maier, W., Zobel, A., Rietschel, M. Pharmacopsychiatry (2003) [Pubmed]
  4. Association of the dysbindin gene with bipolar affective disorder. Breen, G., Prata, D., Osborne, S., Munro, J., Sinclair, M., Li, T., Staddon, S., Dempster, D., Sainz, R., Arroyo, B., Kerwin, R.W., St Clair, D., Collier, D. The American journal of psychiatry. (2006) [Pubmed]
  5. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Li, W., Zhang, Q., Oiso, N., Novak, E.K., Gautam, R., O'Brien, E.P., Tinsley, C.L., Blake, D.J., Spritz, R.A., Copeland, N.G., Jenkins, N.A., Amato, D., Roe, B.A., Starcevic, M., Dell'Angelica, E.C., Elliott, R.W., Mishra, V., Kingsmore, S.F., Paylor, R.E., Swank, R.T. Nat. Genet. (2003) [Pubmed]
  6. Schizophrenia genetics: dysbindin under the microscope. Benson, M.A., Sillitoe, R.V., Blake, D.J. Trends Neurosci. (2004) [Pubmed]
  7. Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia. Talbot, K., Eidem, W.L., Tinsley, C.L., Benson, M.A., Thompson, E.W., Smith, R.J., Hahn, C.G., Siegel, S.J., Trojanowski, J.Q., Gur, R.E., Blake, D.J., Arnold, S.E. J. Clin. Invest. (2004) [Pubmed]
  8. Human dysbindin (DTNBP1) gene expression in normal brain and in schizophrenic prefrontal cortex and midbrain. Weickert, C.S., Straub, R.E., McClintock, B.W., Matsumoto, M., Hashimoto, R., Hyde, T.M., Herman, M.M., Weinberger, D.R., Kleinman, J.E. Arch. Gen. Psychiatry (2004) [Pubmed]
  9. Recent advances in the genetics of schizophrenia. O'Donovan, M.C., Williams, N.M., Owen, M.J. Hum. Mol. Genet. (2003) [Pubmed]
  10. Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1). Williams, N.M., Preece, A., Morris, D.W., Spurlock, G., Bray, N.J., Stephens, M., Norton, N., Williams, H., Clement, M., Dwyer, S., Curran, C., Wilkinson, J., Moskvina, V., Waddington, J.L., Gill, M., Corvin, A.P., Zammit, S., Kirov, G., Owen, M.J., O'Donovan, M.C. Arch. Gen. Psychiatry (2004) [Pubmed]
  11. Identifying potential risk haplotypes for schizophrenia at the DTNBP1 locus in Han Chinese and Scottish populations. Li, T., Zhang, F., Liu, X., Sun, X., Sham, P.C., Crombie, C., Ma, X., Wang, Q., Meng, H., Deng, W., Yates, P., Hu, X., Walker, N., Murray, R.M., St Clair, D., Collier, D.A. Mol. Psychiatry (2005) [Pubmed]
  12. Identification of a high-risk haplotype for the dystrobrevin binding protein 1 (DTNBP1) gene in the Irish study of high-density schizophrenia families. van den Oord, E.J., Sullivan, P.F., Jiang, Y., Walsh, D., O'Neill, F.A., Kendler, K.S., Riley, B.P. Mol. Psychiatry (2003) [Pubmed]
  13. Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression. Bray, N.J., Preece, A., Williams, N.M., Moskvina, V., Buckland, P.R., Owen, M.J., O'Donovan, M.C. Hum. Mol. Genet. (2005) [Pubmed]
  14. DTNBP1 (dysbindin) gene variants modulate prefrontal brain function in healthy individuals. Fallgatter, A.J., Herrmann, M.J., Hohoff, C., Ehlis, A.C., Jarczok, T.A., Freitag, C.M., Deckert, J. Neuropsychopharmacology (2006) [Pubmed]
  15. Hyperactivation of midbrain dopaminergic system in schizophrenia could be attributed to the down-regulation of dysbindin. Kumamoto, N., Matsuzaki, S., Inoue, K., Hattori, T., Shimizu, S., Hashimoto, R., Yamatodani, A., Katayama, T., Tohyama, M. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  16. Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia. Numakawa, T., Yagasaki, Y., Ishimoto, T., Okada, T., Suzuki, T., Iwata, N., Ozaki, N., Taguchi, T., Tatsumi, M., Kamijima, K., Straub, R.E., Weinberger, D.R., Kunugi, H., Hashimoto, R. Hum. Mol. Genet. (2004) [Pubmed]
  17. The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation. Zuo, L., Luo, X., Krystal, J.H., Cramer, J., Charney, D.S., Gelernter, J. Pharmacogenet. Genomics (2009) [Pubmed]
  18. Dysbindin gene (DTNBP1) in major depression: association with clinical response to selective serotonin reuptake inhibitors. Arias, B., Serretti, A., Mandelli, L., Gastó, C., Catalán, R., Ronchi, D.D., Fañanás, L. Pharmacogenet. Genomics (2009) [Pubmed]
  19. Dysbindin structural homologue CK1BP is an isoform-selective binding partner of human casein kinase-1. Yin, H., Laguna, K.A., Li, G., Kuret, J. Biochemistry (2006) [Pubmed]
  20. Inhibition of human vitamin-K-dependent protein-S-cofactor activity by a monoclonal antibody specific for a Ca2+-dependent epitope. Malm, J., Persson, U., Dahlbäck, B. Eur. J. Biochem. (1987) [Pubmed]
  21. The contribution of three strong candidate schizophrenia susceptibility genes in demographically distinct populations. Hall, D., Gogos, J.A., Karayiorgou, M. Genes Brain Behav. (2004) [Pubmed]
  22. The genetics of schizophrenia: glutamate not dopamine? Collier, D.A., Li, T. Eur. J. Pharmacol. (2003) [Pubmed]
  23. Positive association of schizophrenia to JARID2 gene. Pedrosa, E., Ye, K., Nolan, K.A., Morrell, L., Okun, J.M., Persky, A.D., Saito, T., Lachman, H.M. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2007) [Pubmed]
  24. Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families. Schwab, S.G., Knapp, M., Mondabon, S., Hallmayer, J., Borrmann-Hassenbach, M., Albus, M., Lerer, B., Rietschel, M., Trixler, M., Maier, W., Wildenauer, D.B. Am. J. Hum. Genet. (2003) [Pubmed]
  25. Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations. Mathews, C.A., Reus, V.I., Bejarano, J., Escamilla, M.A., Fournier, E., Herrera, L.D., Lowe, T.L., McInnes, L.A., Molina, J., Ophoff, R.A., Raventos, H., Sandkuijl, L.A., Service, S.K., Spesny, M., León, P.E., Freimer, N.B. Psychiatr. Genet. (2004) [Pubmed]
  26. Metalloproteinase with factor X activating and fibrinogenolytic activities from Vipera berus berus venom. Samel, M., Vija, H., Subbi, J., Siigur, J. Comp. Biochem. Physiol. B, Biochem. Mol. Biol. (2003) [Pubmed]
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