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Search results 1 to 100 out of 241 for Hps1

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0.059s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: cattle
Protein Domain
Type: Family
Description: Defects in human HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes, platelet dense bodies, and lysosomes [, ].Human HPS1 is a transmembrane protein component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 [].
Gene
Type: gene
Organism: rat
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein
Organism: Mus musculus/domesticus
Length: 634  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 634  
Fragment?: true
Publication
First Author: Oh J
Year: 1998
Journal: Am J Hum Genet
Title: Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Volume: 62
Issue: 3
Pages: 593-8
Gene
Type: gene
Organism: human
Publication  
First Author: Yu J
Year: 2020
Journal: Front Immunol
Title: HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
Volume: 11
Pages: 560110
Publication  
First Author: Jing R
Year: 2014
Journal: Exp Eye Res
Title: The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene.
Volume: 128
Pages: 57-66
Publication
First Author: Oh J
Year: 1996
Journal: Nat Genet
Title: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Volume: 14
Issue: 3
Pages: 300-6
Protein
Organism: Mus musculus/domesticus
Length: 704  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 712  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 635  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 635  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 627  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 703  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 704  
Fragment?: false
Publication
First Author: Nazarian R
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Volume: 100
Issue: 15
Pages: 8770-5
Publication
First Author: Gerondopoulos A
Year: 2012
Journal: Curr Biol
Title: BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
Volume: 22
Issue: 22
Pages: 2135-9
Publication
First Author: Feng L
Year: 2002
Journal: Blood
Title: The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.
Volume: 99
Issue: 5
Pages: 1651-8
Publication
First Author: Young LR
Year: 2007
Journal: Am J Respir Cell Mol Biol
Title: Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.
Volume: 37
Issue: 1
Pages: 67-74
Publication
First Author: Jing R
Year: 2019
Journal: Reprod Fertil Dev
Title: Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility.
Volume: 31
Issue: 5
Pages: 972-982
Publication
First Author: Young LR
Year: 2006
Journal: J Immunol
Title: Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome.
Volume: 176
Issue: 7
Pages: 4361-8
Publication
First Author: Lyerla TA
Year: 2003
Journal: Am J Physiol Lung Cell Mol Physiol
Title: Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.
Volume: 285
Issue: 3
Pages: L643-53
Publication
First Author: Ahuja S
Year: 2016
Journal: Am J Physiol Lung Cell Mol Physiol
Title: MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.
Volume: 310
Issue: 6
Pages: L519-31
Publication
First Author: Chiang PW
Year: 2003
Journal: J Biol Chem
Title: 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.
Volume: 278
Issue: 22
Pages: 20332-7
Publication
First Author: Suzuki T
Year: 2002
Journal: Nat Genet
Title: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Volume: 30
Issue: 3
Pages: 321-4
Publication
First Author: Ma J
Year: 2016
Journal: J Genet Genomics
Title: BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.
Volume: 43
Issue: 12
Pages: 686-693
Publication  
First Author: Sweet HO
Year: 1994
Journal: Mouse Genome
Title: Remutation - ep6J
Volume: 92
Pages: 672
Publication
First Author: Brown JA
Year: 1985
Journal: J Cell Biol
Title: Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways.
Volume: 100
Issue: 6
Pages: 1894-904
Publication
First Author: Novak EK
Year: 1981
Journal: Blood
Title: The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency.
Volume: 57
Issue: 1
Pages: 38-43
Publication
First Author: Murray HW
Year: 1996
Journal: Infect Immun
Title: Multiple host defense defects in failure of C57BL/6 ep/ep (pale ear) mice to resolve visceral Leishmania donovani infection.
Volume: 64
Issue: 1
Pages: 161-6
Publication
First Author: Nguyen T
Year: 2007
Journal: J Invest Dermatol
Title: Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development.
Volume: 127
Issue: 2
Pages: 421-8
Publication  
First Author: Jing R
Year: 2014
Journal: Exp Eye Res
Title: Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice.
Volume: 119
Pages: 35-43
Publication
First Author: Feng GH
Year: 1997
Journal: Hum Mol Genet
Title: Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
Volume: 6
Issue: 5
Pages: 793-7
Publication
First Author: Guttentag SH
Year: 2005
Journal: Am J Respir Cell Mol Biol
Title: Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome.
Volume: 33
Issue: 1
Pages: 14-21
Publication
First Author: Gardner JM
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
Volume: 94
Issue: 17
Pages: 9238-43
Publication
First Author: Meisler MH
Year: 1984
Journal: J Hered
Title: Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles.
Volume: 75
Issue: 2
Pages: 103-6
Publication
First Author: Keller SA
Year: 1994
Journal: Genomics
Title: Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus.
Volume: 23
Issue: 2
Pages: 309-20
Publication
First Author: Zhou Y
Year: 2018
Journal: J Immunol
Title: Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.
Volume: 200
Issue: 6
Pages: 2140-2153
Publication
First Author: Summer R
Year: 2019
Journal: Orphanet J Rare Dis
Title: Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.
Volume: 14
Issue: 1
Pages: 162
Publication
First Author: Tang X
Year: 2005
Journal: Pathol Int
Title: Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation.
Volume: 55
Issue: 3
Pages: 137-43
Publication  
First Author: Ma J
Year: 2019
Journal: Biosci Rep
Title: Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.
Volume: 39
Issue: 2
Publication
First Author: Novak EK
Year: 1979
Journal: Genetics
Title: Lysosomal dysfunctions associated with mutations at mouse pigment genes.
Volume: 92
Issue: 1
Pages: 189-204
Publication
First Author: Lane PW
Year: 1967
Journal: J Hered
Title: Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII.
Volume: 58
Issue: 1
Pages: 17-20
Publication
First Author: Kloer DP
Year: 2010
Journal: J Biol Chem
Title: Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
Volume: 285
Issue: 10
Pages: 7794-804
Publication
First Author: Wei AH
Year: 2013
Journal: J Invest Dermatol
Title: Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Volume: 133
Issue: 7
Pages: 1834-40
Publication
First Author: Orn A
Year: 1982
Journal: Scand J Immunol
Title: Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity.
Volume: 15
Issue: 3
Pages: 305-10
Publication
First Author: Zhou Y
Year: 2015
Journal: J Clin Invest
Title: Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.
Volume: 125
Issue: 8
Pages: 3178-92
Publication
First Author: Truman-Rosentsvit M
Year: 2018
Journal: Blood
Title: Ferritin is secreted via 2 distinct nonclassical vesicular pathways.
Volume: 131
Issue: 3
Pages: 342-352
Publication
First Author: McGarry MP
Year: 1986
Journal: Exp Hematol
Title: Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency.
Volume: 14
Issue: 4
Pages: 261-5
Publication
First Author: LaVail JH
Year: 1978
Journal: J Comp Neurol
Title: Genetic control of retinal ganglion cell projections.
Volume: 182
Issue: 3
Pages: 399-421
Publication
First Author: Paigen B
Year: 1990
Journal: Arteriosclerosis
Title: Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function.
Volume: 10
Issue: 4
Pages: 648-52
Publication
First Author: Kook S
Year: 2018
Journal: Am J Respir Cell Mol Biol
Title: Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.
Volume: 58
Issue: 5
Pages: 566-574
Publication
First Author: Yuan Y
Year: 2021
Journal: Blood
Title: A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.
Volume: 137
Issue: 13
Pages: 1804-1817
Publication  
First Author: Swank RT
Year: 2000
Journal: Pigment Cell Res
Title: Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome.
Volume: 13 Suppl 8
Pages: 59-67
Publication
First Author: Xie T
Year: 2009
Journal: Cancer Res
Title: Multidrug resistance decreases with mutations of melanosomal regulatory genes.
Volume: 69
Issue: 3
Pages: 992-9
Publication
First Author: Young LR
Year: 2012
Journal: Am J Respir Crit Care Med
Title: The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome.
Volume: 186
Issue: 10
Pages: 1014-24
Publication
First Author: Salazar G
Year: 2006
Journal: Mol Biol Cell
Title: BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes.
Volume: 17
Issue: 9
Pages: 4014-26
Publication
First Author: Bossi G
Year: 2005
Journal: Traffic
Title: Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV.
Volume: 6
Issue: 3
Pages: 243-51
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication      
First Author: Harris BS
Year: 2013
Journal: MGI Direct Data Submission
Title: pale ear 7 Jackson, a spontaneous mutation in Hps1ep 7J arising on the CAST/EiJ background
Publication
First Author: Oh J
Year: 2001
Journal: Mamm Genome
Title: Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus.
Volume: 12
Issue: 6
Pages: 466-8
Publication
First Author: Erickson RP
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: Pigment, platelets, and Hermansky-Pudlak in human and mouse.
Volume: 94
Issue: 17
Pages: 8924-5
Publication
First Author: Nguyen T
Year: 2002
Journal: J Invest Dermatol
Title: Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.
Volume: 119
Issue: 5
Pages: 1156-64
Publication
First Author: Young LR
Year: 2016
Journal: JCI Insight
Title: Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome.
Volume: 1
Issue: 17
Pages: e88947
Publication
First Author: McGarry MP
Year: 1999
Journal: Proc Soc Exp Biol Med
Title: Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
Volume: 220
Issue: 3
Pages: 162-8
Publication
First Author: Novak EK
Year: 1984
Journal: Blood
Title: Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.
Volume: 63
Issue: 3
Pages: 536-44
Publication
First Author: Marks MS
Year: 2012
Journal: Curr Biol
Title: Organelle biogenesis: en BLOC exchange for RAB32 and RAB38.
Volume: 22
Issue: 22
Pages: R963-5
Publication
First Author: Anderson MG
Year: 2008
Journal: Pigment Cell Melanoma Res
Title: Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.
Volume: 21
Issue: 5
Pages: 565-78
Publication
First Author: Deol MS
Year: 1966
Journal: J Embryol Exp Morphol
Title: A new gene affecting the morphogenesis of the vestibular part of the inner ear in the mouse.
Volume: 16
Issue: 3
Pages: 543-58
Publication
First Author: Moore KJ
Year: 1990
Journal: Genetics
Title: Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations.
Volume: 125
Issue: 2
Pages: 421-30
Publication
First Author: Clark EA
Year: 1981
Journal: Immunogenetics
Title: Mutations in mice that influence natural killer (NK) cell activity.
Volume: 12
Issue: 5-6
Pages: 601-13