Genomes and Genes
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
- Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complexBabette Gwynn
The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA
Blood 104:3181-9. 2004..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 ..
- Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampusKaren Newell-Litwa
Graduate Program in Biochemistry, Cell, and Developmental Biology, Emory University, Atlanta, Georgia 30322, USA
J Neurosci 30:820-31. 2010..We propose that anatomically restricted mechanisms within the brain diversify the biogenesis and composition of synaptic vesicles...
- Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)Steven L Ciciotte
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Blood 101:4402-7. 2003..Here, we report the cloning of the mouse HPS mutation cappuccino (cno)...
- The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowthC A Ghiani
Mental Retardation Research Center, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095 7332, USA
Mol Psychiatry 15:115, 204-15. 2010....
- The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapseJennifer Larimore
Department of Cell Biology, Emory University, Atlanta, GA 30322, USA
Mol Biol Cell 22:4854-67. 2011..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...
- Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle developmentThuyen Nguyen
Department of Dermatology, Veterans Affairs Medical Center, University of California, San Francisco 94121, USA
J Invest Dermatol 119:1156-64. 2002..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...
- Cappuccino mutation in an autoimmune-prone strain of mice suggests a role of platelet function in the progression of immune complex crescentic glomerulonephritisMinako Yoshida
Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
Arthritis Rheum 54:2934-43. 2006..This study was undertaken in an attempt to identify the events that are critical for crescent formation in immune complex crescentic glomerulonephritis (CGN) by analyzing a novel mutant strain of mice...
- Physical mapping of the mouse tilted locus identifies an association between human deafness loci DFNA6/14 and vestibular system developmentB Hurle
Department of Molecular Biology and Pharmacology, Washington University School of Medicine, 660 South Euclid Ave, St Louis, Missouri 63110, USA
Genomics 77:189-99. 2001..3-p15 region. This analysis identified an inversion between the mouse and human genomes that places tlt and DFNA6/14 in close proximity...