Bloc1s5

Summary

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
Species: mouse

Top Publications

  1. pmc Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus
    Karen Newell-Litwa
    Graduate Program in Biochemistry, Cell, and Developmental Biology, Emory University, Atlanta, Georgia 30322, USA
    J Neurosci 30:820-31. 2010
  2. pmc The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
    Qing Zhang
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Hum Mol Genet 11:697-706. 2002
  3. ncbi BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
    Juan M Falcon-Perez
    Department of Human Genetics, UCLA School of Medicine, Los Angeles, California 90095, USA
    J Biol Chem 277:28191-9. 2002
  4. pmc 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
  5. pmc Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles
    Karen Newell-Litwa
    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA
    Mol Biol Cell 20:1441-53. 2009
  6. pmc BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
    Subba Rao Gangi Setty
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Biol Cell 18:768-80. 2007
  7. ncbi Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex
    Babette Gwynn
    The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA
    Blood 104:3181-9. 2004
  8. ncbi Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles
    Kengo 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
  9. ncbi 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
  10. doi Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells
    Zhenhua 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

Scientific Experts

  • C A Ghiani
  • Luanne L Peters
  • Wei Li
  • Victor Faundez
  • Yoland Smith
  • Karen Newell-Litwa
  • Zhenhua Hao
  • Avanti Gokhale
  • Jennifer Larimore
  • Marta Starcevic
  • ESTEBAN C DELL'ANGELICA
  • Kengo Moriyama
  • William A Gahl
  • Marjan Huizing
  • Yaqin Feng
  • Qing Yang
  • Babette Gwynn
  • Jean Francois Pare
  • Juan S Bonifacino
  • Qing Zhang
  • Subba Rao Gangi Setty
  • M Lynn Lamoreux
  • Dorothy C Bennett
  • Elena V Sviderskaya
  • Giovanna Bossi
  • Sherri M Jones
  • Thuyen Nguyen
  • Steven L Ciciotte
  • Liangyi Chen
  • Zhuan Zhou
  • Richard T Swank
  • Wen Du
  • Stephen F Kingsmore
  • Bruce A Roe
  • Xiaowei Chen
  • Lisi Wei
  • Edward K Novak
  • Rashi Gautam
  • Jing Ma
  • Juan M Falcon-Perez
  • Zhiyong Zhou
  • Lomon So
  • Erica Werner
  • Christa Lese-Martin
  • Zhe Zhang
  • Aihua Wei
  • Andrew R Cullinane
  • Xin He
  • Min He
  • Vladimir V Lupashin
  • Andres Moreno-De-Luca
  • Xiang Gao
  • Lin Yang
  • Aili Zhang
  • JOSHUA D LEE
  • Stephanie A Zlatic
  • Karine Tornieri
  • Branch Craige
  • Konrad Talbot
  • Pearl V Ryder
  • LeeAnne McGaha
  • Sreenivasulu Chintala
  • Susan Jenkins
  • Gloria Salazar
  • H K Hong
  • M P McGarry
  • Graca Raposo
  • Evelyn Chou
  • R T Swank
  • E K Novak
  • Santiago M Di Pietro
  • Steven T Truschel
  • Daniele Tenza
  • Alexander C Theos
  • Michael S Marks
  • Katherine Richards
  • Christina Trambas
  • Ri Liesner
  • Sarah Booth
  • E Graham Davis
  • Gillian M Griffiths
  • Richard Clark
  • Jane Stinchcombe
  • Kenneth R Johnson
  • Amy J Lambert
  • Heping Yu
  • Lisa S Webb
  • Timothy A Jones
  • Amanda Helip-Wooley
  • Jose A Martina

Detail Information

Publications24

  1. pmc Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus
    Karen 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...
  2. pmc The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
    Qing Zhang
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Hum Mol Genet 11:697-706. 2002
    The 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...
  3. ncbi BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
    Juan 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 ..
  4. pmc 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...
  5. pmc Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles
    Karen 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 ..
  6. pmc BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
    Subba Rao Gangi Setty
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Biol Cell 18:768-80. 2007
    ....
  7. ncbi Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex
    Babette 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, ..
  8. ncbi Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles
    Kengo 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 ..
  9. ncbi 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...
  10. doi Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells
    Zhenhua 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 ..
  11. pmc The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles
    Qing 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...
  12. pmc Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1
    Avanti 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...
  13. pmc The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse
    Jennifer 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...
  14. pmc The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth
    C 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
    ....
  15. ncbi Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation
    Thuyen 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...
  16. ncbi Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV
    Giovanna 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...
  17. ncbi Gravity receptor function in mice with graded otoconial deficiencies
    Sherri 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...
  18. ncbi Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha
    R 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...
  19. ncbi Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome
    M 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...
  20. ncbi Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene
    H 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...
  21. ncbi Mesenchymal dysplasia: a recessive mutation on chromosome 13 of the mouse
    H 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...
  22. ncbi 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. 1995
    The recessive muted (mu) and pearl (pe) mutations on Chromosome (Chr) 13 cause pigment dilution and platelet storage pool deficiency (SPD) in mice...
  23. ncbi Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci
    E 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...
  24. ncbi Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV
    M F Lyon
    Genet Res 14:163-6. 1969