Gene Symbol: Bloc1s4
Description: biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Alias: 2610101N07Rik, Blos4, Cno, biogenesis of lysosome-related organelles complex 1 subunit 4, BLOC-1 subunit 4, biogenesis of organelles complex-1, subunit 4, cappuccino, cappuccino, protein cappuccino homolog
Ciciotte S, Gwynn B, Moriyama K, Huizing M, Gahl W, Bonifacino J, et al
. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood. 2003;101:4402-7 pubmed
..Here, we report the cloning of the mouse HPS mutation cappuccino (cno)...
Gwynn B, Martina J, Bonifacino J, Sviderskaya E, Lamoreux M, Bennett D, et al
. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood. 2004;104:3181-9 pubmed
..biogenesis of lysosome-related organelles complex 1 (BLOC-1), consisting of 4 HPS proteins (pallidin, muted, cappuccino, HPS7/sandy); BLOC-2, consisting of HPS6/ruby-eye, HPS5/ruby-eye-2, and HPS3/cocoa; and BLOC-3, consisting of ..
Newell Litwa K, Chintala S, Jenkins S, Pare J, McGaha L, Smith Y, et al
. Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus. J Neurosci. 2010;30:820-31 pubmed publisher
..We propose that anatomically restricted mechanisms within the brain diversify the biogenesis and composition of synaptic vesicles. ..
Nguyen T, Novak E, Kermani M, Fluhr J, Peters L, Swank R, et al
. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol. 2002;119:1156-64 pubmed
..characterized by the step at which melanosome biogenesis or transfer to keratinocytes is inhibited, with the cappuccino strain observed to be blocked at the earliest step and gunmetal blocked at the latest step...
Yoshida M, Saiga K, Hato T, Iwaki S, Niiya T, Arita N, et al
. Cappuccino mutation in an autoimmune-prone strain of mice suggests a role of platelet function in the progression of immune complex crescentic glomerulonephritis. Arthritis Rheum. 2006;54:2934-43 pubmed
..Genetic analysis revealed a deleterious mutation in the cappuccino gene (cno), which encodes a protein that belongs to a complex called the biogenesis of lysosome-related ..
Ghiani C, Starcevic M, Rodriguez Fernandez I, Nazarian R, Cheli V, Chan L, et al
. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry. 2010;15:115, 204-15 pubmed publisher
Larimore J, Tornieri K, Ryder P, Gokhale A, Zlatic S, Craige B, et al
. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011;22:4854-67 pubmed publisher
..Our findings indicate a novel vesicle transport mechanism requiring BLOC-1 and AP-3 complexes for cargo sorting from neuronal cell bodies to neurites and nerve terminals...