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Search results 201 to 300 out of 307 for Vps13b

0.045s
Type Details Score
GXD Expression    
Probe: MGI:8192735
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1753628
Stage: TS28
Assay Id: MGI:8192849
Age: postnatal week 19
Image: S2
Specimen Label: WT
Detected: true
Specimen Num: 1
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GXD Expression    
Probe: MGI:8192735
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1753628
Stage: TS28
Assay Id: MGI:8192849
Age: postnatal week 19
Image: S2
Specimen Label: HOM
Detected: true
Specimen Num: 2
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GXD Expression    
Probe: MGI:8192735
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1756328
Stage: TS28
Assay Id: MGI:8192855
Age: postnatal week 19
Image: S2
Specimen Label: WT
Detected: true
Specimen Num: 1
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GXD Expression    
Probe: MGI:8192735
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1756328
Stage: TS28
Assay Id: MGI:8192855
Age: postnatal week 19
Image: S2
Specimen Label: HOM
Detected: true
Specimen Num: 2
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GXD Expression    
Probe: MGI:8192749
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Female
Emaps: EMAPS:1753628
Stage: TS28
Assay Id: MGI:8192861
Age: postnatal week 19
Image: S2
Specimen Label: WT
Detected: true
Specimen Num: 1
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GXD Expression    
Probe: MGI:8192749
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Female
Emaps: EMAPS:1753628
Stage: TS28
Assay Id: MGI:8192861
Age: postnatal week 19
Image: S2
Specimen Label: HOM
Detected: true
Specimen Num: 2
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GXD Expression    
Probe: MGI:8192735
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Female
Emaps: EMAPS:1756328
Stage: TS28
Assay Id: MGI:8192862
Age: postnatal week 19
Image: S2
Specimen Label: WT
Detected: true
Specimen Num: 1
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GXD Expression    
Probe: MGI:8192735
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Female
Emaps: EMAPS:1756328
Stage: TS28
Assay Id: MGI:8192862
Age: postnatal week 19
Image: S2
Specimen Label: HOM
Detected: true
Specimen Num: 2
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GXD Expression    
Probe: MGI:8192752
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:8192870
Age: postnatal week 16
Image: S2
Specimen Label: WT
Detected: true
Specimen Num: 1
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GXD Expression    
Probe: MGI:8192752
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:8192870
Age: postnatal week 16
Image: S2
Specimen Label: HOM
Detected: true
Specimen Num: 4
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GXD Expression    
Probe: MGI:8192752
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:8192870
Age: postnatal week 16
Image: S2
Specimen Label: WT
Detected: true
Specimen Num: 2
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GXD Expression    
Probe: MGI:8192752
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:8192870
Age: postnatal week 16
Image: S2
Specimen Label: WT
Detected: true
Specimen Num: 3
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•
GXD Expression    
Probe: MGI:8192752
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:8192870
Age: postnatal week 16
Image: S2
Specimen Label: HOM
Detected: true
Specimen Num: 5
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GXD Expression    
Probe: MGI:8192752
Assay Type: RT-PCR
Annotation Date: 2025-05-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:8192870
Age: postnatal week 16
Image: S2
Specimen Label: HOM
Detected: true
Specimen Num: 6
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Publication
First Author: Assimopoulos S
Year: 2022
Journal: Autism Res
Title: Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities.
Volume: 15
Issue: 7
Pages: 1189-1208
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Publication
First Author: Okazaki N
Year: 2003
Journal: DNA Res
Title: Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.
Volume: 10
Issue: 1
Pages: 35-48
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Publication      
First Author: MGI and IMPC
Year: 2017
Journal: MGI Direct Data Submission
Title: MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
First Author: Ko MS
Year: 2000
Journal: Development
Title: Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development.
Volume: 127
Issue: 8
Pages: 1737-49
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Publication
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
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Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
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Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
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Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication      
First Author: MGI and IMPC
Year: 2026
Journal: Database Release
Title: MGI Load of Molecular Notes for Endonuclease-Mediated (CRISPR) Alleles from the International Mouse Phenotyping Consortium (IMPC)
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Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
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Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
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        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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Publication      
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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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
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Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication        
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        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication      
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
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        
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      
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        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication      
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      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication      
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        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication      
First Author: Mouse Genome Informatics and Ensembl Genome Database Project
Year: 2026
Journal: Database Release
Title: MGI Strain Genome Feature and Gene Model Load from Ensembl.
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Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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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
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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
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Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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UniProt Feature
Begin: 1
Description: Intermembrane lipid transfer protein VPS13B
Type: chain
End: 3993
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Allele
Name: vacuolar protein sorting 13B; targeted mutation 1.2, Mouse Clinical Institute
Allele Type: Targeted
Attribute String: Null/knockout
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DO Term
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Genotype
Symbol: Vps13b/Vps13b
Background: involves: C57BL/6N
Zygosity: hm
Has Mutant Allele: true
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Protein
Organism: Mus musculus/domesticus
Length: 43  
Fragment?: true
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Protein Domain
Type: Family
Description: Vacuolar protein sorting-associated protein 13 (VPS13) is involved in the delivery of proteins to the vacuole in vegetatively growing yeast []and also regulates membrane morphogenesis during sporulation [, ]. It mediates the transfer of lipids between membranes at organelle contact sites [, ]and it is involved in mitochondrial lipid homeostasis [, ]. In humans, the hereditary disorders chorea acanthocytosis and Cohen syndrome are caused by mutations in members of this family that are orthologues of yeast VPS13 (VPS13A and VPS13B respectively). Human VPS13A binds phospholipids and is required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria [, , ]. It is also required for efficient lysosomal protein degradation [].These proteins belong to the RNG superfamily (repeating ��-grooves).
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Protein
Organism: Mus musculus/domesticus
Length: 757  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 76  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 148  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 75  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 200  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 232  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 147  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 127  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 857  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 1186  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 921  
Fragment?: false
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Publication
First Author: Mizuno E
Year: 2007
Journal: Biochem Biophys Res Commun
Title: Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C.
Volume: 353
Issue: 4
Pages: 902-7
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Protein
Organism: Mus musculus/domesticus
Length: 771  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 215  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 193  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 172  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 116  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 1078  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 192  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 115  
Fragment?: true
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Protein
Organism: Mus musculus/domesticus
Length: 2339  
Fragment?: false
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Publication
First Author: Kumar N
Year: 2018
Journal: J Cell Biol
Title: VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites.
Volume: 217
Issue: 10
Pages: 3625-3639
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Publication
First Author: Leonzino M
Year: 2021
Journal: Biochim Biophys Acta Mol Cell Biol Lipids
Title: Insights into VPS13 properties and function reveal a new mechanism of eukaryotic lipid transport.
Volume: 1866
Issue: 10
Pages: 159003
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Publication
First Author: Brickner JH
Year: 1997
Journal: J Cell Biol
Title: SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals.
Volume: 139
Issue: 1
Pages: 23-36
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Publication
First Author: Park JS
Year: 2012
Journal: J Cell Sci
Title: VPS13 regulates membrane morphogenesis during sporulation in Saccharomyces cerevisiae.
Volume: 125
Issue: Pt 12
Pages: 3004-11
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Publication
First Author: Chen S
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Vps13 is required for the packaging of the ER into autophagosomes during ER-phagy.
Volume: 117
Issue: 31
Pages: 18530-18539
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Publication
First Author: Velayos-Baeza A
Year: 2004
Journal: Genomics
Title: Analysis of the human VPS13 gene family.
Volume: 84
Issue: 3
Pages: 536-49
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Publication  
First Author: Dziurdzik SK
Year: 2021
Journal: Int J Mol Sci
Title: The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites.
Volume: 22
Issue: 6
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Protein Domain
Type: Domain
Description: This is the N-terminal chorein domain of VPS13 proteins, which is highly coserved. This domain has a scoop or taco shape whose concave surface is lined by hydrophobic residues which bind glycerophospholipids.VPS13 proteins have been implicated in processes including vesicle fusion, autophagy, and actin regulation. They bind phospholipids and act as channels that mediate the transfer of lipids between membranes at organelle contact sites [, , ]. It has been proposed that members of this entry have the capacity to bind and likely transfer tens of glycerolipids at once. Yeast VPS13 acts at multiple cellular sites, namely the interface between mitochondria and the vacuole, on endosomes, on the nuclear-vacuole junction and the vacuole, depending on the carbon source and metabolic state. Most evidence showed that mammalian VPS13A, VPS13C and VPS13D localize at contacts between the ER and other organelles, i.e. VPS13A and VPS13D bridge the ER to mitochondria, VPS13C bridges the ER to late endosomes and lysosomes and VPS13B may localize to endosome-endosome contacts [, , ]. Mutations in human VPS13 proteins (VPS13A-D) cause different diseases such as Chorea-acanthocytosis, Cohen syndrome, Parkinson's disease, and spastic ataxia, respectively which suggests they have different functions [, ]. Members of this entry belong to the repeating ��-groove (RBG) superfamily. These proteins share a structure made of multiple repeating modules consisting of five ��-sheets followed by a loop [].
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Protein Domain
Type: Domain
Description: This entry represents the C-terminal PH-like domain from VPS13 which weakly binds to phosphatidylinositol 4,5-bisphosphate and contributes to membrane recruitment [, , ]. Truncation of this domain in VPS13A are causative for chorea-acanthocytosis, which suggests that it plays an important function [].VPS13 proteins have been implicated in processes including vesicle fusion, autophagy, and actin regulation. They bind phospholipids and act as channels that mediate the transfer of lipids between membranes at organelle contact sites [, , , ]. It has been proposed that members of this entry have the capacity to bind and likely transfer tens of glycerolipids at once. Yeast VPS13 acts at multiple cellular sites, namely the interface between mitochondria and the vacuole, on endosomes, on the nuclear-vacuole junction and the vacuole, depending on the carbon source and metabolic state. VPS13A, VPS13C and VPS13D from mammals localise at contacts at contacts between the ER and other organelles, i.e. VPS13A and VPS13D bridge the ER to mitochondria, VPS13C bridges the ER to late endosomes and lysosomes and VPS13B may localise to endosome-endosome contacts [, , ]. Mutations in human VPS13 proteins cause different diseases such as Chorea-acanthocytosis, Cohen syndrome, Parkinson's disease, and spastic ataxia [].
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Protein Domain
Type: Domain
Description: This entry represents the middle region of the VPS13 proteins.VPS13 proteins have been implicated in processes including vesicle fusion, autophagy, and actin regulation. They bind phospholipids and act as channels that mediate the transfer of lipids between membranes at organelle contact sites [, , , ]. It has been proposed that members of this entry have the capacity to bind and likely transfer tens of glycerolipids at once. Yeast VPS13 acts at multiple cellular sites, namely the interface between mitochondria and the vacuole, on endosomes, on the nuclear-vacuole junction and the vacuole, depending on the carbon source and metabolic state. VPS13A, VPS13C and VPS13D from mammals localise at contacts at contacts between the ER and other organelles, i.e. VPS13A and VPS13D bridge the ER to mitochondria, VPS13C bridges the ER to late endosomes and lysosomes and VPS13B may localise to endosome-endosome contacts [, , ]. Mutations in human VPS13 proteins cause different diseases such as Chorea-acanthocytosis, Cohen syndrome, Parkinson's disease, and spastic ataxia [].
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Protein
Organism: Mus musculus/domesticus
Length: 3166  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 3748  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 3748  
Fragment?: false
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Publication  
First Author: Kolakowski D
Year: 2021
Journal: Int J Mol Sci
Title: The GTPase Arf1 Is a Determinant of Yeast Vps13 Localization to the Golgi Apparatus.
Volume: 22
Issue: 22
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Publication    
First Author: Yeshaw WM
Year: 2019
Journal: Elife
Title: Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.
Volume: 8
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Publication  
First Author: Adlakha J
Year: 2022
Journal: J Cell Biol
Title: Structural and biochemical insights into lipid transport by VPS13 proteins.
Volume: 221
Issue: 5
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Protein
Organism: Mus musculus/domesticus
Length: 4390  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 4359  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 1918  
Fragment?: true
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