HPS4

Summary

Gene Symbol: HPS4
Description: HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Alias: BLOC3S2, Hermansky-Pudlak syndrome 4 protein, light-ear protein homolog
Species: human

Top Publications

  1. ncbi Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
    Tamio Suzuki
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    Nat Genet 30:321-4. 2002
  2. ncbi The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
    Pei Wen Chiang
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver 80262, USA
    J Biol Chem 278:20332-7. 2003
  3. ncbi Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
    Paul D Anderson
    Medical Genetics Branch, MSC 1851, Building 10, Room 10C 103, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892 1851, USA
    Hum Genet 113:10-7. 2003
  4. ncbi BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
    Jose A Martina
    Cell Biology and Metabolism Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 278:29376-84. 2003
  5. pmc Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
    Ramin Nazarian
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 100:8770-5. 2003
  6. doi An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients
    Atsushi Saito
    Department of Biological Psychiatry and Neuroscience, Dokkyo Medical University School of Medicine, Mibu, Tochigi 321 0293, Japan
    Psychiatr Genet 23:163-73. 2013
  7. pmc BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor
    Andreas Gerondopoulos
    Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
    Curr Biol 22:2135-9. 2012
  8. ncbi The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome
    Marta Hoffman-Sommer
    Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5A, Warsaw 02 106, Poland
    Traffic 6:534-8. 2005
  9. pmc Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9
    Daniel P Kloer
    Laboratory of Molecular Biology, NIDDK, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 285:7794-804. 2010
  10. ncbi Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Section on Human Biochemical Genetics, Medical Genetics Branch, Bethesda, MD 20892 1851, USA
    Platelets 18:150-7. 2007

Research Grants

Scientific Experts

  • Michael Harris-Love
  • Kazufumi Akiyama
  • Maria L Wei
  • Luanne L Peters
  • Young Sik Lee
  • M Hirosawa
  • Marjan Huizing
  • William A Gahl
  • ESTEBAN DELL ANGELICA
  • Carmelo Carmona-Rivera
  • Saunie M Hutton
  • Atsushi Saito
  • Go Kuratomi
  • Fangdi Hu
  • Richard A Spritz
  • Tamio Suzuki
  • Juan S Bonifacino
  • Kengo Moriyama
  • James G White
  • Morié Ishida
  • Eric C Lawson
  • Behrooz Darbani
  • Kazutaka Shimoda
  • Toshihiko Inukai
  • Zilong Dang
  • Takashi Watanabe
  • Kenichi Ohmori
  • Kumiko Fujii
  • Yuji Ozeki
  • Nicholas D Cardillo
  • Hailan Yu
  • Andreas Gerondopoulos
  • Shilan Feng
  • Babette Gwynn
  • Verónica T Cheli
  • Daniel P Kloer
  • Jose A Martina
  • ESTEBAN C DELL'ANGELICA
  • Antoine De Leusse
  • Nadeem Hussain
  • Amanda Helip-Wooley
  • Marta Hoffman-Sommer
  • Esther B Bachli
  • Paul D Anderson
  • Vincent Ciavatta
  • Jeffrey H Boatright
  • Shagun K Bhatia
  • Moe H Aung
  • Mitsunori Fukuda
  • Pei Wen Chiang
  • Dorothy C Bennett
  • Mai E Oguchi
  • Ramin Nazarian
  • Elena V Sviderskaya
  • Steven L Ciciotte
  • Moon K Han
  • Machelle T Pardue
  • Shahin Noeparvar
  • Richard T Swank
  • Søren Borg
  • Christina R Hermos
  • Demei Feng
  • Jin Liang
  • Hiroo Matsuoka
  • Long Guo
  • Carmen L Cadilla
  • Fang Cui
  • Jiandi Liang
  • Chihiro Ito
  • Xiaohua Liu
  • Harunobu Mori
  • Tao Yang
  • Yasutsugu Fukushima
  • Dimitre R Simeonov
  • Jin Rui Liang
  • Nan Luo
  • Francis A Barr
  • Lars Langemeyer
  • Andrea Linford
  • Lichao Sun
  • Dong Liu
  • Ekaterini Tsilou
  • Bernadette R Gochuico
  • Richard A Hess
  • Gretchen Golas
  • Kevin O'Brien
  • Elijah H Martin
  • Raul Rojas
  • Namita Murthy
  • Xiaodong Li

Detail Information

Publications33

  1. ncbi Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
    Tamio Suzuki
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    Nat Genet 30:321-4. 2002
    ..We have identified and found mutations of the human le homolog, HPS4, in a number of non-Puerto Rican individuals with HPS, establishing HPS4 as an important HPS locus in humans...
  2. ncbi The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
    Pei Wen Chiang
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver 80262, USA
    J Biol Chem 278:20332-7. 2003
    ..different loci have been associated with HPS in humans, the most frequent of which are mutations of the HPS1 and HPS4 genes...
  3. ncbi Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
    Paul D Anderson
    Medical Genetics Branch, MSC 1851, Building 10, Room 10C 103, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892 1851, USA
    Hum Genet 113:10-7. 2003
    ..HPS1, ADTB3A, HPS3, and HPS4, respectively...
  4. ncbi BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
    Jose A Martina
    Cell Biology and Metabolism Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 278:29376-84. 2003
    ..Here we report that the human HPS1 and HPS4 proteins are part of a complex named BLOC-3 (for biogenesis of lysosome-related organelles complex 3)...
  5. pmc Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
    Ramin Nazarian
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 100:8770-5. 2003
    ..Several HPS genes encode proteins of unknown function including HPS1, HPS3, and HPS4. Here we have identified and characterized endogenous HPS3 and HPS4 proteins from HeLa cells...
  6. doi An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients
    Atsushi Saito
    Department of Biological Psychiatry and Neuroscience, Dokkyo Medical University School of Medicine, Mibu, Tochigi 321 0293, Japan
    Psychiatr Genet 23:163-73. 2013
    ....
  7. pmc BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor
    Andreas Gerondopoulos
    Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
    Curr Biol 22:2135-9. 2012
    ..However the molecular functions of the Hps1-Hps4 complex BLOC-3 remain mysterious...
  8. ncbi The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome
    Marta Hoffman-Sommer
    Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5A, Warsaw 02 106, Poland
    Traffic 6:534-8. 2005
    ..been described as novel, but herein we report the identification of a conserved protein family which includes human HPS4, as well as distant homologs for other HPS genes...
  9. pmc Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9
    Daniel P Kloer
    Laboratory of Molecular Biology, NIDDK, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 285:7794-804. 2010
    ..HPS arises from mutations in any of 8 genes in humans and 16 genes in mice. Two of these genes, HPS1 and HPS4, encode components of the biogenesis of lysosome-related organelles complex-3 (BLOC-3)...
  10. ncbi Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Section on Human Biochemical Genetics, Medical Genetics Branch, Bethesda, MD 20892 1851, USA
    Platelets 18:150-7. 2007
    ..Thus, it is unlikely that the generalized bleeding diathesis of HPS is attributed to a deficiency of alpha granules...
  11. ncbi Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function
    Maria L Wei
    Department of Dermatology, Veterans Affairs Medical Center 190, University of California, 4150 Clement St, San Francisco, USA
    Pigment Cell Res 19:19-42. 2006
    ....
  12. doi Multiple Types of Guanine Nucleotide Exchange Factors (GEFs) for Rab Small GTPases
    Morié Ishida
    Laboratory of Membrane Trafficking Mechanisms, Department of Developmental Biology and Neurosciences, Graduate School of Life Sciences, Tohoku University
    Cell Struct Funct 41:61-79. 2016
    ..Rab-GEFs, including DENN proteins, VPS9 proteins, Sec2 proteins, TRAPP complexes, heterodimer GEFs (Mon1-Ccz1, HPS1-HPS4 (BLOC-3 complex), Ric1-Rgp1 and Rab3GAP1/2), and other GEFs (e.g., REI-1 and RPGR)...
  13. pmc Deciphering Mineral Homeostasis in Barley Seed Transfer Cells at Transcriptional Level
    Behrooz Darbani
    Department of Molecular Biology and Genetics, Research Centre Flakkebjerg, Aarhus University, Slagelse, Denmark
    PLoS ONE 10:e0141398. 2015
    ..Among them, it is worth to highlight the auxin and ethylene signaling factors Arfs, Abcbs, Cand1, Hps4, Hac1, Ecr1, and Ctr1, diurnal fluctuation components Sdg2, Imb1, Lip1, and PhyC, retroelements, sulfur homeostasis ..
  14. doi Tauroursodeoxycholic Acid Protects Retinal Function and Structure in rd1 Mice
    Eric C Lawson
    Department of Ophthalmology, Emory University School of Medicine, 30322, Atlanta, GA, USA
    Adv Exp Med Biol 854:431-6. 2016
    ..We injected two strains of rd1 mice (B6.C3-Pde6b (rd1) Hps4(le)/J and C57BL/6J-Pde6b (rd1-2)/J mice) daily from postnatal day (P) 6 to P21 with TUDCA or vehicle...
  15. pmc Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects
    Go Kuratomi
    Department of Biological Psychiatry and Neuroscience, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu, Tochigi 3210293, Japan
    BMC Psychiatry 13:276. 2013
    The Hermansky-Pudlak Syndrome Type 4 (HPS4) gene, which encodes a subunit protein of the biogenesis of lysosome-related organelles complex (BLOC)-3, which is involved in late endosomal trafficking, is associated with schizophrenia; ..
  16. ncbi Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome
    Antoine De Leusse
    Service d Hepato Gastroenterologie, Hopital Europeen Georges Pompidou, Paris
    Gastroenterol Clin Biol 30:621-4. 2006
    ..Ileitis was severe, and recurred rapidly after surgery. Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative...
  17. doi Structure and antioxidant activity study of sulfated acetamido-polysaccharide from Radix Hedysari
    Zilong Dang
    School of Pharmacy, Lanzhou University, Lanzhou 730000, PR China
    Fitoterapia 89:20-32. 2013
    A new sulfated acetamido-heteropolysaccharide, HPS4-2A, was obtained by aqueous extraction followed by precipitation with ethanol and fractionation with DEAE column chromatography from Radix Hedysari...
  18. pmc A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3)
    Carmelo Carmona-Rivera
    University of Puerto Rico, School of Medicine, Department of Biochemistry, San Juan, PR 00936 5067, USA
    Biochim Biophys Acta 1833:468-78. 2013
    ..Two of these genes (HPS1 and HPS4) encode the HPS1 and HPS4 proteins, which assemble to form a complex known as Biogenesis of Lysosome-related ..
  19. pmc HPS4/SABRE regulates plant responses to phosphate starvation through antagonistic interaction with ethylene signalling
    Hailan Yu
    MOE Key Laboratory of Bioinformatics, School of Life Sciences, Tsinghua University, Beijing, 100084, PR China
    J Exp Bot 63:4527-38. 2012
    ..In this work, an Arabidopsis mutant, hps4, was characterized that exhibits enhanced responses to Pi starvation, including increased inhibition of primary ..
  20. doi A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    Invest Ophthalmol Vis Sci 49:868-72. 2008
    ..The purpose of this study was to characterize the relative prevalence of different genetic forms of AROA, and to characterize a sample repertoire of gene mutations in a large series of Caucasian patients with AROA...
  21. ncbi Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
    Christina R Hermos
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892 1851, USA
    Hum Mutat 20:482. 2002
    ..Four human genes (HPS1, ADTB3A, HPS3, HPS4) are associated with four subtypes of HPS. The most common is HPS-1...
  22. ncbi Hermansky-Pudlak syndrome: vesicle formation from yeast to man
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Pigment Cell Res 15:405-19. 2002
    ..Four such genes, HPS1, ADTB3A, HPS3, and HPS4, are associated with the four known subtypes of HPS, i.e. HPS-1, HPS-2, HPS-3, and HPS-4...
  23. 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
    ..Four genes causing HPS in humans (HPS1-HPS4) are known, and at least 15 nonallelic mutations cause HPS in the mouse...
  24. ncbi Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
    Esther B Bachli
    Department of Medicine, University Hospital Zurich, Raemistrasse 100, 8091 Zurich, Switzerland
    Am J Med Genet A 127:201-7. 2004
    ..Six human genes HPS1, ADB3A, HPS3, HPS4, HPS5, and HPS6 have been identified as cause of the six known subtypes of HPS...
  25. 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
    ..BLOC-2, consisting of HPS6/ruby-eye, HPS5/ruby-eye-2, and HPS3/cocoa; and BLOC-3, consisting of HPS1/pale ear and HPS4/light ear. Here, we report the cloning of the mouse HPS mutation reduced pigmentation (rp)...
  26. pmc Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent
    Carmelo Carmona-Rivera
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    J Invest Dermatol 131:2394-400. 2011
    ..HPS1 and HPS4 form a stable complex named biogenesis of lysosome-related organelles complex (BLOC)-3, and patients with BLOC-3 or ..
  27. doi Antidiabetic properties of purified polysaccharide from Hedysarum polybotrys
    Fangdi Hu
    College of Chemistry and Chemical Engineering, Lanzhou University, 222 Tianshui Road, Lanzhou 730000, China
    Can J Physiol Pharmacol 88:64-72. 2010
    ..the antidiabetic properties of 4 purified fractions of different molecular weight range HPSs (HPS1, HPS2, HPS3, HPS4)...
  28. doi Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3
    Verónica T Cheli
    Department of Human Genetics, David Geffen School of Medicine, University of California, Gonda 6357B, 695 Charles E Young Dr S, Los Angeles, CA 90095 7088, USA
    Traffic 11:579-86. 2010
    ..However, the yeast proteins Mon1, Ccz1 and She3 have been reported to display homology to the HPS1 and HPS4 subunits of BLOC-3 and the BLOS2 subunit of BLOC-1, respectively...
  29. ncbi Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype
    Nadeem Hussain
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Clin Gastroenterol Hepatol 4:73-80. 2006
    ..This study aimed to document the occurrence of colitis among HPS patients, characterize gastrointestinal tract involvement in HPS, and analyze the distribution of colitis among HPS genotypes...
  30. pmc Silencing by small RNAs is linked to endosomal trafficking
    Young Sik Lee
    Department of Biochemistry, Molecular Biology and Cell Biology, Northwestern University, Evanston, IL 60201, USA
    Nat Cell Biol 11:1150-6. 2009
    ..Blocking the maturation of MVBs into lysosomes by loss of the tethering factor HPS4 (ref...
  31. pmc Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 128:2442-50. 2008
    ..with "classical" OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the ..
  32. ncbi Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping
    M Hirosawa
    Kazusa DNA Research Institute, Kisarazu, Chiba, Japan
    DNA Res 8:1-9. 2001
    ..In conclusion, the mapping of ESTs derived from long cDNAs followed by sequencing of the entire cDNAs provided indispensable information for the precise annotation of genes on the genome together with ESTs derived from short cDNAs...

Research Grants2

  1. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2007
    ..The goal of this project is to elucidate the function(s) of the products of the HPS1 and HPS4 genes, which are associated with two severe forms of HPS...
  2. Mechanisms of Hypopigmentation in Hermansky-Pudlak Syndrome
    MARIA WEI; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..