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Search results 1 to 100 out of 121 for Hps3

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0.041s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Domain
Type: Family
Description: The Hermansky-Pudlak syndrome 3 protein is involved in early stages of melanosome biogenesis and maturation []. Hermansky-Pudlak syndrome 3 (HPS3) is a form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [, ].
Publication      
First Author: Karst SY
Year: 2007
Journal: MGI Direct Data Submission
Title: Cocoa 8 Jackson, a new spontaneous mouse mutation in the Hps3 gene
Protein
Organism: Mus musculus
Length: 1002  
Fragment?: false
Protein
Organism: Mus musculus
Length: 1002  
Fragment?: false
Protein
Organism: Mus musculus
Length: 870  
Fragment?: false
Protein
Organism: Mus musculus
Length: 855  
Fragment?: true
Protein
Organism: Mus musculus
Length: 1002  
Fragment?: false
Protein
Organism: Mus musculus
Length: 870  
Fragment?: false
Publication
First Author: Anikster Y
Year: 2001
Journal: Nat Genet
Title: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
Volume: 28
Issue: 4
Pages: 376-80
Publication
First Author: Huizing M
Year: 2001
Journal: Am J Hum Genet
Title: Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
Volume: 69
Issue: 5
Pages: 1022-32
Protein
Organism: Mus musculus
Length: 621  
Fragment?: false
Protein
Organism: Mus musculus
Length: 158  
Fragment?: false
Publication
First Author: Huizing M
Year: 2001
Journal: Mol Genet Metab
Title: Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.
Volume: 74
Issue: 1-2
Pages: 217-25
Publication
First Author: Gautam R
Year: 2004
Journal: J Biol Chem
Title: The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
Volume: 279
Issue: 13
Pages: 12935-42
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication      
First Author: Siggs OM
Year: 2008
Journal: MGI Direct Data Submission
Title: Record for "pam gray", updated 23rd of July, 2008
Publication      
First Author: Purrington T
Year: 2013
Journal: MGI Direct Data Submission
Title: Direct data submission for blue
Publication      
First Author: Purrington T
Year: 2013
Journal: MGI Direct Data Submission
Title: Direct data submission for gandalf
Publication  
First Author: Sweet HO
Year: 1985
Journal: Mouse News Lett
Title: Cocoa (coa)
Volume: 73
Pages: 18
Publication      
First Author: Samples RM
Year: 2007
Journal: MGI Direct Data Submission
Title: Cocoa 7 Jackson, a new spontaneous moouse mutation in The Hsp3 gene
Publication
First Author: Novak EK
Year: 1988
Journal: Br J Haematol
Title: Cocoa: a new mouse model for platelet storage pool deficiency.
Volume: 69
Issue: 3
Pages: 371-8
Publication  
First Author: Cornwell MM
Year: 1991
Journal: Cancer Treat Res
Title: Molecular biology of P-glycoprotein.
Volume: 57
Pages: 37-56
Publication      
First Author: Gagnon L
Year: 2000
Journal: MGI Direct Data Submission
Title: The Jackson Laboratory Mouse Mutant Resource 2000 Mutation Reports
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: Suzuki T
Year: 2001
Journal: Genomics
Title: The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.
Volume: 78
Issue: 1-2
Pages: 30-7
Publication
First Author: Rachel RA
Year: 2012
Journal: PLoS One
Title: Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.
Volume: 7
Issue: 9
Pages: e42446
Publication
First Author: Falcón-Pérez JM
Year: 2005
Journal: J Cell Sci
Title: Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.
Volume: 118
Issue: Pt 22
Pages: 5243-55
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: Chan WT
Year: 2008
Journal: PLoS One
Title: Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis.
Volume: 3
Issue: 7
Pages: e2713
Publication
First Author: Cook S
Year: 1995
Journal: Mouse Genome
Title: Remutation coa<5J>
Volume: 93
Issue: 4
Pages: 1030
Publication
First Author: Salazar G
Year: 2009
Journal: J Biol Chem
Title: Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.
Volume: 284
Issue: 3
Pages: 1790-802
Publication
First Author: Sweet HO
Year: 1993
Journal: Mouse Genome
Title: Remutations at The Jackson Laboratory
Volume: 91
Issue: 4
Pages: 862-65
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: 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: Odorizzi G
Year: 1998
Journal: Trends Cell Biol
Title: The AP-3 complex: a coat of many colours.
Volume: 8
Issue: 7
Pages: 282-8
Publication
First Author: Sweet HO
Year: 1995
Journal: Mouse Genome
Title: Remutations at The Jackson Laboratory (Update to Mouse Genome 1993; 91:862-5 - J16313)
Volume: 93
Issue: 4
Pages: 1030-4
Publication
First Author: Brunskill EW
Year: 2008
Journal: Dev Cell
Title: Atlas of gene expression in the developing kidney at microanatomic resolution.
Volume: 15
Issue: 5
Pages: 781-91
Publication
First Author: Kaput J
Year: 2004
Journal: Physiol Genomics
Title: Identification of genes contributing to the obese yellow Avy phenotype: caloric restriction, genotype, diet x genotype interactions.
Volume: 18
Issue: 3
Pages: 316-24
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication          
First Author: MGD Nomenclature Committee
Year: 1995
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Allele  
Name: melanoregulin; dilute suppressor
Allele Type: Spontaneous
Publication categories: ProxyCollection
Allele  
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa
Allele Type: Spontaneous
Publication categories: ProxyCollection
Allele  
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 6 Jackson
Allele Type: Spontaneous
Publication categories: ProxyCollection
Allele  
Name: myosin VA; dilute
Allele Type: Spontaneous
Publication categories: ProxyCollection
Genotype
Symbol: Hps3/Hps3
Background: C3H/HeJ-Hps3/J
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Hps3/Hps3
Background: involves: C57BL/10J
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Hps3/Hps3 Myo5a/Myo5a Mreg/Mreg
Background: involves: C57BL/10J
Zygosity: cx
Has Mutant Allele: true
DO Term
Protein Domain
Type: Domain
Description: This entry represents the N-terminal domain of the Hermansky-Pudlak syndrome 3 (HPS3) protein. In human HPS3, this region carries the clathrin-binding motif LLDFE at residues 172-176. Hermansky-Pudlak syndrome caused by mutations in HPS3 gene is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [, ].
Protein Domain
Type: Domain
Description: This entry represents the C-terminal domain of the Hermansky-Pudlak syndrome 3 (HPS3) protein. In human HPS3, this region carries a number of tyrosine sorting motifs and the second of two di-leucine sorting boxes at residues 711-717, as well as the ER membrane-retention signal KKPL at residues 1000-1003. Hermansky-Pudlak syndrome caused by mutations in HPS3 gene is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [, ].
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: 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: King SM
Year: 2009
Journal: Circulation
Title: Platelet dense-granule secretion plays a critical role in thrombosis and subsequent vascular remodeling in atherosclerotic mice.
Volume: 120
Issue: 9
Pages: 785-91
Protein
Organism: Mus musculus
Length: 805  
Fragment?: false