ID/Version |
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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
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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.
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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 J:244989 Papaleo F, et al., Dysbindin-1 modulates prefrontal cortical activity and schizophrenia-like behaviors via dopamine/D2 pathways. Mol Psychiatry. 2012 Jan;17(1):85-98 J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89 J:317906 Nazarian R, et al., Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem J. 2006 May 1;395(3):587-98 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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