Dystrobrevin Binding Protein 1 (DTNBP1)

DBND; HPS7; My031; SDY; Dysbindin; Biogenesis of lysosome-related organelles complex 1 subunit 8; Hermansky-Pudlak syndrome 7 protein

SPN	U404
HGNC	17328
MGI	2137586
PubMed	19449336
UniProt	Q96EV8
Wiki	Dysbindin

Dysbindin is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus.Probable dysbindin-related mechanisms causing brain dysfunction are not fully known, but in one study, schizophrenic patients carrying the high-risk haplotype demonstrated visual processing deficits. In another work, damping down the DTNBP1 expression led to an increase in cell surface dopamine D2-receptor levels.

Reference

"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. 35:84-89(2003) [PubMed] [Europe PMC] [Abstract]

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Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 6."
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia."
Hum. Mol. Genet. 13:2699-2708(2004) [PubMed] [Europe PMC] [Abstract]

"Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia."
J. Clin. Invest. 113:1353-1363(2004) [PubMed] [Europe PMC] [Abstract]

"Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin."
Hum. Mol. Genet. 15:3041-3054(2006) [PubMed] [Europe PMC] [Abstract]

"BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes."
Mol. Biol. Cell 17:4027-4038(2006) [PubMed] [Europe PMC] [Abstract]

"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles."
Mol. Biol. Cell 18:768-780(2007) [PubMed] [Europe PMC] [Abstract]

"Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization."
J. Neurosci. 27:12390-12395(2007) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression."
Hum. Mol. Genet. 18:3851-3863(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Dysbindin-1 and its protein family with special attention to the potential role of dysbindin-1 in neuronal functions and the pathophysiology of schizophrenia."
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"Dysbindin engages in c-Jun N-terminal kinase activity and cytoskeletal organization."
Biochem. Biophys. Res. Commun. 379:191-195(2009) [PubMed] [Europe PMC] [Abstract]

"TRIM32 is an E3 ubiquitin ligase for dysbindin."
Hum. Mol. Genet. 18:2344-2358(2009) [PubMed] [Europe PMC] [Abstract]

"Direct interaction of dysbindin with the AP-3 complex via its mu subunit."
Neurochem. Int. 54:431-438(2009) [PubMed] [Europe PMC] [Abstract]

"Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA-dependent protein kinase complex in an isoform-dependent manner."
PLoS ONE 4:E4199-E4199(2009) [PubMed] [Europe PMC] [Abstract]

"DTNBP1 (dysbindin) gene variants modulate prefrontal brain function in schizophrenic patients--support for the glutamate hypothesis of schizophrenias."
Genes Brain Behav. 9:489-497(2010) [PubMed] [Europe PMC] [Abstract]

"Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression."
J. Biol. Chem. 285:38630-38640(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location."
PLoS ONE 6:E16886-E16886(2011) [PubMed] [Europe PMC] [Abstract]

"Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1)."
J. Biol. Chem. 287:5882-5890(2012) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]