Genomes and Genes
Gene Symbol: Bloc1s5
Description: biogenesis of lysosomal organelles complex-1, subunit 5, muted
Alias: 1810074A19Rik, Muted, biogenesis of lysosome-related organelles complex 1 subunit 5, BLOC-1 subunit 5, biogenesis of organelles complex-1, subunit 5, muted, protein Muted homolog
- 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..Loss-of-function alleles of BLOC-1, Pldn(pa/pa), and Muted(mu/mu) revealed that this complex acts as a brain-region-specific regulator of AP-3...
- The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle traffickingQing Zhang
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Hum Mol Genet 11:697-706. 2002The muted (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS), an inherited disorder of humans causing hypopigmentation, hemorrhaging and early death due to lung abnormalities...
- BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granulesJuan M Falcon-Perez
Department of Human Genetics, UCLA School of Medicine, Los Angeles, California 90095, USA
J Biol Chem 277:28191-9. 2002..Two of these genes, which are defective in the pallid and muted mutant mouse strains, encode small, coiled-coil-forming proteins that display no homology to each other or to any ..
- Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)Wei Li
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
Nat Genet 35:84-9. 2003..9-11), which regulates trafficking to lysosome-related organelles and includes the proteins pallidin, muted and cappuccino, which are associated with HPS in mice...
- Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesiclesKaren Newell-Litwa
Department of Cell Biology, Emory University, Atlanta, GA 30322, USA
Mol Biol Cell 20:1441-53. 2009..complexes involved in lysosomal biogenesis from early endosomes, the ubiquitous isoform of AP-3 (Ap3b1(-/-)) and muted, defective in the biogenesis of lysosome-related organelles complex 1 (BLOC-1), increased the content of ..
- BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organellesSubba Rao Gangi Setty
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Mol Biol Cell 18:768-80. 2007....
- 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..AP-3; 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, ..
- Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organellesKengo Moriyama
Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Traffic 3:666-77. 2002..One of the subunits of this complex is the product of another Hermansky-Pudlak syndrome gene, muted. Fibroblasts derived from the muted mouse strain exhibit reduced levels of pallidin, suggesting that the absence ..
- 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..of lysosome-related organelles complex-1), consisting of the proteins encoded at 2 mouse HPS loci, pallid (pa) and muted (mu), and at least 3 other unidentified proteins...
- Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cellsZhenhua Hao
State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China University of Chinese Academy of Sciences, Beijing 100039, China
J Cell Sci 128:1365-74. 2015..The mu mutant mouse, which carries a spontaneous null mutation on the Muted gene (also known as Bloc1s5), which encodes a subunit of the biogenesis of lysosome-related organelles complex-1 (BLOC-1), is a mouse model ..
- The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organellesQing Yang
State Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China
Traffic 13:1160-9. 2012..Mild defects in the melanosomes of the retinal pigment epithelia and in the platelet dense granules of the Kxd1-KO mouse were observed, mimicking a mouse model of mild Hermansky-Pudlak syndrome that affects the biogenesis of LROs...
- Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1Avanti Gokhale
Department of Cell Biology, Emory University, Atlanta, Georgia 30322, USA
J Neurosci 32:3697-711. 2012..Thus, our quantitative proteomic studies expand the functional repertoire of the BLOC-1 complex and provide insight into putative molecular pathways of schizophrenia susceptibility...
- 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...
- 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....
- Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentationThuyen Nguyen
Department of Dermatology, Veterans Affairs Medical Center, University of California, San Francisco, California 94121, USA
J Invest Dermatol 122:452-60. 2004..all strains examined here except for ashen have defects in morphogenesis, the most severely affected is sandy, muted, and buff followed by subtle gray...
- Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XVGiovanna Bossi
Sir William Dunn School of Pathology, South Parks Road, Oxford, OX1 3RE, UK
Traffic 6:243-51. 2005..We find that CTL function is normal in HPS patients and pale-ear mice deficient in BLOC-3, pallid, muted and sandy mice deficient in BLOC-1, ruby-eye mice deficient in BLOC-2 and buff mice deficient in Vps33a...
- Gravity receptor function in mice with graded otoconial deficienciesSherri M Jones
School of Medicine, University of Missouri, Columbia, MO 65212, USA
Hear Res 191:34-40. 2004..mouse strains with variable deficits in otoconia: lethal milk (lm), pallid (pa), tilted (tlt), mocha (mh), and muted (mu). Control animals were either age-matched heterozygotes or C57BL/6J (abbr. B6) mice...
- Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mochaR T Swank
Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Buffalo, NY 14263
Blood 78:2036-44. 1991..To determine if this association is common, two other mouse pigment mutants, muted and mocha, which are known to have inner ear abnormalities, were examined for hematologic abnormalities...
- Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndromeM P McGarry
Department of Laboratoy Animal Resource, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
Proc Soc Exp Biol Med 220:162-8. 1999..Mice doubly homozygous for the pale ear and ruby eye or for the muted and pearl genes had the shortest life spans with none surviving the two-year experimental duration...
- Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor geneH K Hong
Department of Genetics BRB 721 and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106 4955, USA
Hum Mol Genet 8:625-37. 1999..We also localized a second member of this gene family ( Hfh1 ), a candidate for other developmental defects, approximately 470 kb proximal to Mf1...
- Mesenchymal dysplasia: a recessive mutation on chromosome 13 of the mouseH O Sweet
Jackson Laboratory, Harbor, Maine 04609 1500, USA
J Hered 87:87-95. 1996..Mesenchymal dysplasia has been mapped to mouse chromosome (Chr) 13. These mapping crosses also confirmed that the Purkinje cell degeneration (pcd) mutation is on Chr 13...
- Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD)E P O'Brien
Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, New York 14263
Mamm Genome 6:19-24. 1995The recessive muted (mu) and pearl (pe) mutations on Chromosome (Chr) 13 cause pigment dilution and platelet storage pool deficiency (SPD) in mice...
- Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic lociE K Novak
Blood 63:536-44. 1984..Also, the results emphasize the genetic, morphological, and functional interrelatedness of three organelles: melanosomes, lysosomes, and platelet dense granules...
- Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIVM F Lyon
Genet Res 14:163-6. 1969