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Search results 101 to 200 out of 246 for Hps1

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Type Details Score
Publication
- | J:24189
 
First Author: Harris B
Year: 1994
Journal: Mouse Genome
Title: The map location of grey coat (grc) is confirmed on Chromosome 5
Volume: 92
Pages: 672
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Publication
- | J:23673
 
First Author: Eicher E
Year: 1973
Journal: Mouse News Lett
Title: Centromere position in Chromosome 19 - bm-ep-ru
Volume: 48
Pages: 35
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Publication
- | J:20273
 
First Author: Lane PW
Year: 1971
Journal: Mouse News Lett
Title: Linkage data: ru - ep - bm
Volume: 45
Pages: 29
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Publication
6776948 | J:6422
First Author: Novak EK
Year: 1980
Journal: Biochem Genet
Title: Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon.
Volume: 18
Issue: 5-6
Pages: 549-61
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Publication
10441736 | J:56826
First Author: Herron BJ
Year: 1999
Journal: Mamm Genome
Title: Scraggly, a new hair loss mutation on mouse chromosome 19.
Volume: 10
Issue: 9
Pages: 864-9
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Publication
4436535 | J:5505
First Author: Lane PW
Year: 1974
Journal: J Hered
Title: Chromosome 19 of the house mouse.
Volume: 65
Issue: 5
Pages: 297-300
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Publication
7274657 | J:6570
First Author: Timms GP
Year: 1981
Journal: Genetics
Title: Genetics of aldehyde dehydrogenase isozymes in the mouse: evidence for multiple loci and localization of Ahd-2 on chromosome 19.
Volume: 97
Issue: 2
Pages: 327-36
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Publication
16249233 | J:103783
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
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Publication
- | J:13904
 
First Author: Timms GP
Year: 1982
Journal: Mouse News Lett
Title: Cytoplasmic aldehyde dehydrogenase (Ahd-2 on Chromosome 19)
Volume: 66
Pages: 60
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Publication
- | J:20223
 
First Author: Timms GP
Year: 1981
Journal: Mouse News Lett
Title: Aldehyde dehydrogenase B4 (cytoplasmic isozyme)
Volume: 64
Pages: 55
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Publication
21052544 | J:166679
 
First Author: Won J
Year: 2011
Journal: J Ophthalmol
Title: Mouse model resources for vision research.
Volume: 2011
Pages: 391384
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Publication
5713631 | J:5109
First Author: Lane PW
Year: 1968
Journal: J Hered
Title: Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby.
Volume: 59
Issue: 5
Pages: 300-8
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Publication
22905720 | J:248378
 
First Author: Nedelko T
Year: 2012
Journal: BMC Genomics
Title: Distinct gene loci control the host response to influenza H1N1 virus infection in a time-dependent manner.
Volume: 13
Pages: 411
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Publication
8043950 | J:18648
First Author: O'Brien EP
Year: 1994
Journal: Mamm Genome
Title: Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm.
Volume: 5
Issue: 6
Pages: 356-60
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Publication
- | J:78801
       
First Author: Silvers WK
Year: 1979
Title: The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction
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Publication
19010779 | J:145883
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
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Publication
9107690 | J:39608
First Author: Wright A
Year: 1997
Journal: Mamm Genome
Title: Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru.
Volume: 8
Issue: 5
Pages: 377-8
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Publication
- | J:13528
 
First Author: Bailey DW
Year: 1972
Journal: Mouse News Lett
Title: Located histocompatibility genes.
Volume: 47
Pages: 18
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Publication
9714600 | J:48443
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
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Publication
25917818 | J:222308
First Author: Fairfield H
Year: 2015
Journal: Genome Res
Title: Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Volume: 25
Issue: 7
Pages: 948-57
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Publication
- | J:342607
       
First Author: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
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Publication
- | J:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
- | J:265051
     
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
- | J:148605
     
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
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Publication
- | J:72247
       
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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21677750 | J:173534
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
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
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
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
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).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
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
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
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
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Publication
12756248 | J:113925
First Author: Martina JA
Year: 2003
Journal: J Biol Chem
Title: BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
Volume: 278
Issue: 31
Pages: 29376-84
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Allele
Hps1<ep> | MGI:1856712
 
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale-ear
Allele Type: Spontaneous
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Genotype
Genotype
Symbol: Hps1/Hps1
Background: involves: C3HeB/FeJ * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Hps1/Hps1
Background: B6.C3Fe-Hps1/J
Zygosity: hm
Has Mutant Allele: true
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Allele
Ap3d1<mh-4J> | MGI:5484771
 
Name: adaptor-related protein complex 3, delta 1 subunit; mocha 4 Jackson
Allele Type: Spontaneous
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Allele
Hps1<ep-7J> | MGI:5500910
 
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale ear 7 Jackson
Allele Type: Spontaneous
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Genotype
Genotype
Symbol: Hps1/Hps1
Background: CAST/EiJ-Hps1/GrsrJ
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Rab27a/Rab27a
Background: C3H/HeSn-Rab27a/J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Ap3d1/Ap3d1
Background: involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0060539 | Hermansky-Pudlak syndrome 1
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Genotype
Genotype
Symbol: Ap3b1/Ap3b1 Hps1/Hps1
Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Allele
Hps1<tvrm32> | MGI:4867885
 
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; translational vision research model 32
Allele Type: Chemically induced (ENU)
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GO Term
GO:0031085 | BLOC-3 complex
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Allele
Bloc1s5<mu> | MGI:1856106
Name: biogenesis of lysosomal organelles complex-1, subunit 5, muted; muted
Allele Type: Spontaneous
Attribute String: Hypomorph
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Protein Coding Gene
MGI:107734 | Ap3d1
Type: protein_coding_gene
Organism: mouse, laboratory
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Allele
Rab27a<ash> | MGI:1856656
 
Name: RAB27A, member RAS oncogene family; ashen
Allele Type: Spontaneous
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Allele
Hps1<ep-6J> | MGI:1856711
 
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale ear 6 Jackson
Allele Type: Spontaneous
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Allele
Krd | MGI:1861657
 
Name: kidney and retinal defects
Allele Type: Transgenic
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HT Experiment
GSE235628 | Dysregulated alveolar epithelial maintenance in Hermansky-Pudlak syndrome pulmonary fibrosis
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Protein Coding Gene
MGI:1861441 | Rab27a
Type: protein_coding_gene
Organism: mouse, laboratory
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Strain
MGI:2165837 | C57BL/6J-Hps1<ep-6J>/J
Attribute String: mutant strain, spontaneous mutation
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Strain
MGI:2160937 | C57BL/6J-Hps1<ep>
Attribute String: mutant strain, spontaneous mutation
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Strain
MGI:2164678 | STOCK Hps1<ep> sgl
Attribute String: mutant stock
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Strain
MGI:5651232 | (C57BL/6 x STOCK Hps1<ep> sgl)F1
Attribute String: F1 hybrid, mutant stock
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Strain
MGI:2161718 | B6.C3Fe-Hps1<ep>/J
Attribute String: spontaneous mutation, mutant strain, congenic
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Strain
MGI:5651233 | (CAST/Ei x STOCK Hps1<ep> sgl)F1
Attribute String: F1 hybrid, mutant stock
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Strain
MGI:2684653 | B6.Hps1<ep>
Attribute String: mutant strain
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Strain
MGI:3699245 | B6.C3Fe-Hps1<ep>/JLlp
Attribute String: spontaneous mutation, mutant strain, congenic
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Strain
MGI:2173775 | B6.C3Fe-H51 Hps1<ep>/ByJ
Attribute String: congenic, mutant strain, minor histocompatibility congenic, spontaneous mutation
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Strain
MGI:6281034 | B6.Cg-Pde6b<+> Krd/Boc
Attribute String: chromosome aberration, congenic, deletion, insertion
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Strain
MGI:2165116 | C3.Cg-Pde6b<+> Krd/J
Attribute String: congenic, mutant strain, deletion
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Publication
9000048 | J:37854
First Author: Bedell MA
Year: 1997
Journal: Genes Dev
Title: Mouse models of human disease. Part II: recent progress and future directions.
Volume: 11
Issue: 1
Pages: 11-43
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Publication
10087301 | J:54055
First Author: Ji W
Year: 1999
Journal: Mamm Genome
Title: Identification of genes within the Krd deletion on mouse chromosome 19.
Volume: 10
Issue: 4
Pages: 399-401
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Publication
9748274 | J:50327
First Author: Nomura H
Year: 1998
Journal: J Biol Chem
Title: Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects.
Volume: 273
Issue: 40
Pages: 25967-73
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Publication
9473325 | J:45929
First Author: Otteson DC
Year: 1998
Journal: Dev Biol
Title: Pax2 expression and retinal morphogenesis in the normal and Krd mouse.
Volume: 193
Issue: 2
Pages: 209-24
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Genotype
Genotype
Symbol: Hps1/Hps1
Background: either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J)
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Krd/Krd
Background: involves: C3H/He * C57BL/6 * YBR/Ki
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Krd/Krd<+>
Background: involves: C3H/He * C57BL/6 * YBR/Ki
Zygosity: ht
Has Mutant Allele: true
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Protein Domain
IPR043972 | FUZ/MON1/HPS1_longin_1
Type: Domain
Description: Longin domains are evolutionarily conserved regions widely distributed among eukaryotes, involved in membrane dynamic regulation and exhibit similarities in primary sequence and secondary structure. Longin-like domains are found in FUZ and related proteins, such as the MON1 and HPS1 proteins [, , ]. The MON1/CCZ1 complex (MC1) is the GDP/GTP exchange factor (GEF) for the Rab GTPase Ypt7/Rab7 during vesicular trafficking []. The HPS1/HPS4 complex (BLOC-3) is a Rab32 and Rab38 GEF and is required for biogenesis of melanosomes and platelet dense granules []. Inturned (INTU) and Fuzzy (FUZ) proteins interact as members of the ciliogenesis and planar polarity effector (CPLANE) complex that controls recruitment of intraflagellar transport machinery to the basal body of primary cilia [, ]. Structurally, these domains are composed of an alpha/beta fold which contains five anti-parallel β-strands organised as a central β-sheet and around it, two α-helices [].This entry represents the first Longin domain found in FUZ, MON1 and HPS1 proteins.
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Protein Domain
IPR043970 | FUZ/MON1/HPS1_longin_3
Type: Domain
Description: Longin domains are evolutionarily conserved regions widely distributed among eukaryotes, involved in membrane dynamic regulation and exhibit similarities in primary sequence and secondary structure. Longin-like domains are found in FUZ and related proteins, such as the MON1 and HPS1 proteins [, , ]. The MON1/CCZ1 complex (MC1) is the GDP/GTP exchange factor (GEF) for the Rab GTPase Ypt7/Rab7 during vesicular trafficking []. The HPS1/HPS4 complex (BLOC-3) is a Rab32 and Rab38 GEF and is required for biogenesis of melanosomes and platelet dense granules []. Inturned (INTU) and Fuzzy (FUZ) proteins interact as members of the ciliogenesis and planar polarity effector (CPLANE) complex that controls recruitment of intraflagellar transport machinery to the basal body of primary cilia [, ]. Structurally, these domains are composed of an alpha/beta fold which contains five anti-parallel β-strands organised as a central β-sheet and around it, two α-helices [].This entry represents the third Longin domain of FUZ, MON1 and HPS1 proteins.
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Protein Domain
IPR043971 | FUZ/MON1/HPS1_longin_2
Type: Domain
Description: Longin domains are evolutionarily conserved regions widely distributed among eukaryotes, involved in membrane dynamic regulation and exhibit similarities in primary sequence and secondary structure. Longin-like domains are found in FUZ and related proteins, such as the MON1 and HPS1 proteins [, , ]. The MON1/CCZ1 complex (MC1) is the GDP/GTP exchange factor (GEF) for the Rab GTPase Ypt7/Rab7 during vesicular trafficking []. The HPS1/HPS4 complex (BLOC-3) is a Rab32 and Rab38 GEF and is required for biogenesis of melanosomes and platelet dense granules []. Inturned (INTU) and Fuzzy (FUZ) proteins interact as members of the ciliogenesis and planar polarity effector (CPLANE) complex that controls recruitment of intraflagellar transport machinery to the basal body of primary cilia [, ]. Structurally, these domains are composed of an alpha/beta fold which contains five anti-parallel β-strands organised as a central β-sheet and around it, two α-helices [].This entry represents the second Longin domain found in FUZ, MON1 and HPS1 proteins.
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Protein Domain
IPR026091 | HPS4
Type: Family
Description: Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of melanosomes, platelet dense granules and lysosomes []. HPS is common in Puerto Rico, where is mostly caused by mutations in the genes HPS1 or HPS3. Another HPS locus, HPS4 was identified by using mouse models []. It was suggested that HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis [].This family represents BLOC-3 complex member HPS4, a 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 [].
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Strain
MGI:7850834 | B6.C3-Ap3b1<pe> Hps1<ep>
Attribute String: congenic, mutant strain, spontaneous mutation
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Genotype
Genotype
Symbol: Ap3b1/Ap3b1 Hps1/Hps1
Background: B6.C3-Ap3b1 Hps1
Zygosity: cx
Has Mutant Allele: true
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Protein
Q6PDG8
Organism: Mus musculus/domesticus
Length: 556  
Fragment?: false
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Protein
Q3UYI6
Organism: Mus musculus/domesticus
Length: 415  
Fragment?: false
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Protein
Q8BMQ8
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
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Protein
A0A0R4J0D5
Organism: Mus musculus/domesticus
Length: 556  
Fragment?: false
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Protein
A0A140LIC9
Organism: Mus musculus/domesticus
Length: 387  
Fragment?: false
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•
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Protein
A0A140LJD3
Organism: Mus musculus/domesticus
Length: 379  
Fragment?: false
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•
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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