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Sequence Detail
ID/Version
Q91WZ8 Q9CY43 Q80ZN4 Q6WXQ1 Q3TWK1 (UniProt | EBI) Last sequence update: 2001-12-01
Last annotation update: 2014-07-09
Sequence
description
from provider
RecName: Full=Dysbindin;AltName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 8; Short=BLOC-1 subunit 8;AltName: Full=Dysbindin-1;AltName: Full=Dystrobrevin-binding protein 1;AltName: Full=Hermansky-Pudlak syndrome 7 protein ho
Provider SWISS-PROT
Sequence
Polypeptide 352 aa
For this sequence
Source
Organism mouse
See UniProt | EBI for source
Annotated genes and markers Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.
Type Symbol Name GO Terms Expression
Assays
Orthologs Phenotypic
Alleles
Gene Dtnbp1 dystrobrevin binding protein 1 50 2 4 52
Sequence references in MGI J:1958 Swank RT, et al., Sandy: a new mouse model for platelet storage pool deficiency. Genet Res. 1991 Aug;58(1):51-62
J:70125 Benson MA, et al., Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem. 2001 Jun 29;276(26):24232-41
J:85123 Li W, 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 Sep;35(1):84-9
J:88863 Benson MA, et al., Myospryn is a novel binding partner for dysbindin in muscle. J Biol Chem. 2004 Mar 12;279(11):10450-8
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:114481 Salazar G, et al., BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell. 2006 Sep;17(9):4014-26
J:114587 Di Pietro SM, et al., BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell. 2006 Sep;17(9):4027-38
J:114843 Talbot K, et al., Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin. Hum Mol Genet. 2006 Oct 15;15(20):3041-54
J:126877 Nian H, et al., RNF151, a testis-specific RING finger protein, interacts with dysbindin. Arch Biochem Biophys. 2007 Sep 1;465(1):157-63
J:137024 Chen XW, et al., DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release. J Cell Biol. 2008 Jun 2;181(5):791-801
J:137937 Hattori S, et al., Behavioral abnormalities and dopamine reductions in sdy mutant mice with a deletion in Dtnbp1, a susceptibility gene for schizophrenia. Biochem Biophys Res Commun. 2008 Aug 22;373(2):298-302
J:143912 Bhardwaj SK, et al., Behavioral characterization of dysbindin-1 deficient sandy mice. Behav Brain Res. 2009 Feb 11;197(2):435-41
J:144529 Kubota K, et al., Dysbindin engages in c-Jun N-terminal kinase activity and cytoskeletal organization. Biochem Biophys Res Commun. 2009 Feb 6;379(2):191-5
J:151119 Cox MM, et al., Neurobehavioral abnormalities in the dysbindin-1 mutant, sandy, on a C57BL/6J genetic background. Genes Brain Behav. 2009 Jun;8(4):390-7
J:154762 Ji Y, et al., Role of dysbindin in dopamine receptor trafficking and cortical GABA function. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19593-8
J:156872 Nagai T, et al., Dysfunction of dopamine release in the prefrontal cortex of dysbindin deficient sandy mice: an in vivo microdialysis study. Neurosci Lett. 2010 Feb 12;470(2):134-8
J:187545 Larimore J, et al., The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011 Dec;22(24):4854-67
J:188897 Ghiani CA, et al., The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry. 2010 Feb;15(2):115, 204-15
J:192646 Yang Q, et al., The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic. 2012 Aug;13(8):1160-9
J:196265 Fei E, et al., Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression. J Biol Chem. 2010 Dec 3;285(49):38630-40

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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory