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Search results 201 to 246 out of 246 for Hps1

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Type Details Score
Protein
E9QL29
Organism: Mus musculus/domesticus
Length: 415  
Fragment?: false
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Publication
27158779 | J:243791
First Author: Toriyama M
Year: 2016
Journal: Nat Genet
Title: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Volume: 48
Issue: 6
Pages: 648-56
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Publication
19767740 | J:158243
First Author: Gray RS
Year: 2009
Journal: Nat Cell Biol
Title: The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development.
Volume: 11
Issue: 10
Pages: 1225-32
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Protein
A0A140LI55
Organism: Mus musculus/domesticus
Length: 349  
Fragment?: false
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Protein
A0A140LIH3
Organism: Mus musculus/domesticus
Length: 191  
Fragment?: true
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Protein
A0A0R4J2D4
Organism: Mus musculus/domesticus
Length: 461  
Fragment?: false
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Publication
17075139 | -
First Author: Kinch LN
Year: 2006
Journal: Protein Sci
Title: Longin-like folds identified in CHiPS and DUF254 proteins: vesicle trafficking complexes conserved in eukaryotic evolution.
Volume: 15
Issue: 11
Pages: 2669-74
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Publication
28051187 | -
 
First Author: Kiontke S
Year: 2017
Journal: Nat Commun
Title: Architecture and mechanism of the late endosomal Rab7-like Ypt7 guanine nucleotide exchange factor complex Mon1-Ccz1.
Volume: 8
Pages: 14034
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Publication
31562761 | -
First Author: Sanchez-Pulido L
Year: 2020
Journal: Bioinformatics
Title: Hexa-Longin domain scaffolds for inter-Rab signalling.
Volume: 36
Issue: 4
Pages: 990-993
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Protein
A0A140LI92
Organism: Mus musculus/domesticus
Length: 77  
Fragment?: true
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Protein
A0A140LI68
Organism: Mus musculus/domesticus
Length: 192  
Fragment?: false
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Protein
A0A140LJ73
Organism: Mus musculus/domesticus
Length: 94  
Fragment?: false
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Strain
MGI:2164846 | B6.Cg-Tyrp1<b> Hps1<ep>
Attribute String: mutant strain
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Strain
MGI:5650465 | (B6C3FeF1-Papss2<bm> Hps1<ep> Hps6<ru>/Papss2<bm> Hps1<ep> Hps6<ru> x PWK)F1
Attribute String: F1 hybrid, mutant stock
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Strain
MGI:5649638 | B6C3F3-Papss2<bm> Hps1<ep> Hps6<ru>/Papss2<bm> Hps1<ep> Hps6<ru>
Attribute String: mutant strain
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Strain
MGI:5649727 | B6C3FeF1-Papss2<bm> Hps1<ep> Hps6<ru>
Attribute String: F1 hybrid, mutant stock
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Strain
MGI:5649637 | B6C3FeF1-Papss2<bm> Hps1<ep> Hps6<ru>/Papss2<bm> Hps1<ep> Hps6<ru>
Attribute String: F1 hybrid, mutant stock
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Strain
MGI:3719660 | B6.Cg-Bloc1s6 Hps1<ep>
Attribute String: spontaneous mutation, mutant strain, congenic
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Publication
9159136 | J:40910
First Author: Urbánek P
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: Cooperation of Pax2 and Pax5 in midbrain and cerebellum development.
Volume: 94
Issue: 11
Pages: 5703-8
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Genotype
Genotype
Symbol: Hps1/Hps1
Background: involves: C3HeB/FeJ * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Hps1/Hps1 Bloc1s6/Bloc1s6
Background: B6.Cg-Bloc1s6 Hps1
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Krd/Krd<+> Pax5/Pax5
Background: involves: 129S2/SvPas * C3H/He * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Krd/Krd<+> Pax5/Pax5<+>
Background: involves: 129S2/SvPas * C3H/He * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Protein
Q99KG7
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: false
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Protein
Q3TAF8
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: false
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Protein
Q541V2
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: true
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Protein
Q6P568
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: false
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Protein Domain
IPR043989 | CCZ1/INTU/HSP4_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 found in CCZ1, INTU and HPS4 proteins.
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Protein Domain
IPR043987 | CCZ1/INTU/HSP4_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 INTU, CCZ1 and HPS4.
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Protein Domain
IPR043988 | CCZ1/INTU_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 INTU and CCZ1 proteins.
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Publication
24375798 | J:310478
First Author: Varma S
Year: 2014
Journal: Am J Physiol Lung Cell Mol Physiol
Title: Grainyhead-like 2 (GRHL2) distribution reveals novel pathophysiological differences between human idiopathic pulmonary fibrosis and mouse models of pulmonary fibrosis.
Volume: 306
Issue: 5
Pages: L405-19
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Publication
19675248 | J:151932
First Author: Auffret A
Year: 2009
Journal: J Neurosci
Title: Age-dependent impairment of spine morphology and synaptic plasticity in hippocampal CA1 neurons of a presenilin 1 transgenic mouse model of Alzheimer's disease.
Volume: 29
Issue: 32
Pages: 10144-52
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Publication
23306558 | J:228263
First Author: Song H
Year: 2013
Journal: Cell Death Differ
Title: Critical role of presenilin-dependent γ-secretase activity in DNA damage-induced promyelocytic leukemia protein expression and apoptosis.
Volume: 20
Issue: 4
Pages: 639-48
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Publication
39699958 | J:360696
 
First Author: Wang JY
Year: 2024
Journal: JCI Insight
Title: Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome.
Volume: 10
Issue: 3
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Protein
Q8C1Y8
Organism: Mus musculus/domesticus
Length: 480  
Fragment?: false
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Protein
A0A0N4SUY7
Organism: Mus musculus/domesticus
Length: 258  
Fragment?: true
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Strain
MGI:2163072 | B6C3Fe a/a-Papss2<bm> Hps1<ep> Hps6<ru>/J
Attribute String: mutant stock, spontaneous mutation
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Strain
MGI:3577233 | C3H101HF1 x STOCK a Papss2<bm> Hps1<ep> Hps6<ru>/H
Attribute String: spontaneous mutation, mutant stock
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Strain
MGI:5651295 | (C3H/HeH x 101/H)F1 x STOCK Gdf5<bp> Myo5a<d> Bmp5<se> Hps6<ru> Hps1<ep>
Attribute String: F1 hybrid, mutant stock
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Strain
MGI:3664457 | B6.LIII-Sgk3<fz> Mlph<ln> Cdh23<v> Hps1<ep>/Rbrc
Attribute String: congenic, mutant strain, spontaneous mutation
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Protein Coding Gene
MGI:2177742 | Hps4
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein
Q059U7
Organism: Mus musculus/domesticus
Length: 942  
Fragment?: false
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Strain
MGI:2161145 | LIII
Attribute String: mutant stock, spontaneous mutation
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Strain
MGI:5651386 | (C3H/HeH x 101/H)F1 x STOCK a Gdf5<bp> Myo5a<d> Bmp5<se> Hps6<ru> Hps1<ep>
Attribute String: F1 hybrid, mutant stock
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Publication
10493779 | J:59481
 
First Author: Hawes NL
Year: 1999
Journal: Mol Vis
Title: Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes.
Volume: 5
Pages: 22
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Publication
15489334 | -
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7
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