Dtnbp1

Summary

Gene Symbol: Dtnbp1
Description: dystrobrevin binding protein 1
Alias: dysbindin, BLOC-1 subunit 8, biogenesis of lysosome-related organelles complex 1 subunit 8, distrobrevin binding protein 1, dysbindin-1
Species: rat
Products:     Dtnbp1

Top Publications

  1. Benson M, Newey S, Martin Rendon E, Hawkes R, Blake D. Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem. 2001;276:24232-41 pubmed
    ..Here we describe the identification of a dysbindin, a novel dystrobrevin-binding protein...
  2. Benson M, Tinsley C, Blake D. Myospryn is a novel binding partner for dysbindin in muscle. J Biol Chem. 2004;279:10450-8 pubmed
    b>Dysbindin is a coiled-coil-containing protein that was initially identified in a screen for dystrobrevin-interacting proteins...
  3. Starcevic M, Dell Angelica E. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2004;279:28393-401 pubmed
    ..The complex is known to contain the coiled-coil-forming proteins, Pallidin, Muted, Cappuccino, and Dysbindin. The genes encoding these proteins are defective in inbred mouse strains that serve as models of Hermansky-..
  4. Numakawa T, Yagasaki Y, Ishimoto T, Okada T, Suzuki T, Iwata N, et al. Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia. Hum Mol Genet. 2004;13:2699-708 pubmed
    Genetic variation in dysbindin (DTNBP1: dystrobrevin-binding protein 1) has recently been shown to be associated with schizophrenia. The dysbindin gene is located at chromosome 6p22...
  5. Talbot K, Cho D, Ong W, Benson M, Han L, Kazi H, et al. Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin. Hum Mol Genet. 2006;15:3041-54 pubmed
    Variations in the gene encoding the novel protein dysbindin-1 (DTNBP1) are among the most commonly reported genetic variations associated with schizophrenia...
  6. Schwab S, Knapp M, Mondabon S, Hallmayer J, Borrmann Hassenbach M, Albus M, et al. 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. Am J Hum Genet. 2003;72:185-90 pubmed
    Genetic variants in a gene on 6p22.3, dysbindin, have been shown recently to be associated with schizophrenia (Straub et al. 2002a)...
  7. Li W, Zhang Q, Oiso N, Novak E, Gautam R, O Brien E, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003;35:84-9 pubmed
    ..7). Here we show that the sdy mutant mouse expresses no dysbindin protein owing to a deletion in the gene Dtnbp1 (encoding dysbindin) and that mutation of the human ortholog ..
  8. Iizuka Y, Sei Y, Weinberger D, Straub R. Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization. J Neurosci. 2007;27:12390-5 pubmed
    The schizophrenia susceptibility gene dystrobrevin-binding protein 1 (DTNBP1) encodes dysbindin, which along with its binding partner Muted is an essential component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)...
  9. Matteucci A, Gaddini L, Macchia G, Varano M, Petrucci T, Macioce P, et al. Developmental expression of dysbindin in Muller cells of rat retina. Exp Eye Res. 2013;116:1-8 pubmed publisher
    b>Dysbindin, the product of the DTNBP1 gene, was identified by yeast two hybrid assay as a binding partner of dystrobrevin, a cytosolic component of the dystrophin protein complex...

More Information

Publications23

  1. Chen X, Feng Y, Hao C, Guo X, He X, Zhou Z, et al. DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release. J Cell Biol. 2008;181:791-801 pubmed publisher
    ..The dystrobrevin-binding protein 1 (DTNBP1) gene, which encodes a coiled-coil protein, dysbindin, is a major susceptibility gene for schizophrenia...
  2. Setty S, Tenza D, Truschel S, Chou E, Sviderskaya E, Theos A, et al. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell. 2007;18:768-80 pubmed
  3. Iwanaga R, Komori H, Ishida S, Okamura N, Nakayama K, Nakayama K, et al. Identification of novel E2F1 target genes regulated in cell cycle-dependent and independent manners. Oncogene. 2006;25:1786-98 pubmed
    ..These results indicate that there are groups of E2F1 targets, which are regulated in a distinct manner from that of typical E2F targets. ..
  4. Swank R, Sweet H, Davisson M, Reddington M, Novak E. Sandy: a new mouse model for platelet storage pool deficiency. Genet Res. 1991;58:51-62 pubmed
    ..It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules. ..
  5. Nazarian R, Starcevic M, Spencer M, Dell Angelica E. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem J. 2006;395:587-98 pubmed
    b>Dysbindin was identified as a dystrobrevin-binding protein potentially involved in the pathogenesis of muscular dystrophy...
  6. Kubota K, Kumamoto N, Matsuzaki S, Hashimoto R, Hattori T, Okuda H, et al. Dysbindin engages in c-Jun N-terminal kinase activity and cytoskeletal organization. Biochem Biophys Res Commun. 2009;379:191-5 pubmed publisher
    A number of reports have provided genetic evidence for an association between the DTNBP1 gene (coding dysbindin) and schizophrenia...
  7. Taneichi Kuroda S, Taya S, Hikita T, Fujino Y, Kaibuchi K. Direct interaction of Dysbindin with the AP-3 complex via its mu subunit. Neurochem Int. 2009;54:431-8 pubmed publisher
    ..Recent studies have revealed the association between genetic variation of Dysbindin (DTNBP1) and schizophrenia...
  8. Ji Y, Yang F, Papaleo F, Wang H, Gao W, Weinberger D, et al. Role of dysbindin in dopamine receptor trafficking and cortical GABA function. Proc Natl Acad Sci U S A. 2009;106:19593-8 pubmed publisher
    b>Dysbindin has been implicated in the pathogenesis of schizophrenia, but little is known about how dysbindin affects neuronal function in the circuitry underlying psychosis and related behaviors...
  9. Fei E, Ma X, Zhu C, Xue T, Yan J, Xu Y, et al. Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression. J Biol Chem. 2010;285:38630-40 pubmed publisher
    b>Dysbindin-1 is a 50-kDa coiled-coil-containing protein encoded by the gene DTNBP1 (dystrobrevin-binding protein 1), a candidate genetic factor for schizophrenia...
  10. Lee H, Nemecek D, Schindler C, Smith W, Ghirlando R, Steven A, et al. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2012;287:5882-90 pubmed publisher
    ..show that BLOC-1 is an elongated complex that contains one copy each of the eight subunits pallidin, Cappuccino, dysbindin, Snapin, Muted, BLOS1, BLOS2, and BLOS3...
  11. Zhang Y, Xu Y, Zhu Q, Zhao F, Luo J, Zhang X, et al. Upregulation of dysbindin in temporal lobe epileptic foci of human and experimental animals. Synapse. 2012;66:622-9 pubmed publisher
    The gene encoding dystrobrevin-binding-protein-1 (dysbindin) is expressed in many areas of the central nervous system and plays a role in intracellular vesicle trafficking, synaptic vesicle trafficking, and neurotransmitter release...
  12. Jia J, Hu Z, Nordman J, Li Z. The schizophrenia susceptibility gene dysbindin regulates dendritic spine dynamics. J Neurosci. 2014;34:13725-36 pubmed publisher
    b>Dysbindin is a schizophrenia susceptibility gene required for the development of dendritic spines...
  13. Ito H, Morishita R, Shinoda T, Iwamoto I, Sudo K, Okamoto K, et al. Dysbindin-1, WAVE2 and Abi-1 form a complex that regulates dendritic spine formation. Mol Psychiatry. 2010;15:976-86 pubmed publisher
    Genetic variations in dysbindin-1 (dystrobrevin-binding protein-1) are one of the most commonly reported variations associated with schizophrenia...
  14. Rangrez A, Bernt A, Poyanmehr R, Harazin V, Boomgaarden I, Kuhn C, et al. Dysbindin is a potent inducer of RhoA-SRF-mediated cardiomyocyte hypertrophy. J Cell Biol. 2013;203:643-56 pubmed publisher
    b>Dysbindin is an established schizophrenia susceptibility gene thoroughly studied in the context of the brain...