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Search results 1 to 100 out of 140 for Vps13b

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Hits by Pathway

Hits by Strain

Hits by Category

Type Details Score
Gene
157680 | VPS13B
Type: gene
Organism: human
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Gene
315036 | Vps13b
Type: gene
Organism: rat
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Gene
740973 | VPS13B
Type: gene
Organism: chimpanzee
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Gene
481981 | VPS13B
Type: gene
Organism: dog, domestic
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Gene
512656 | VPS13B
Type: gene
Organism: cattle
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Gene
420242 | VPS13B
Type: gene
Organism: chicken
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Gene
704477 | VPS13B
Type: gene
Organism: macaque, rhesus
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Gene
100490880 | vps13b
Type: gene
Organism: frog, western clawed
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Protein Domain
IPR039782 | VPS13B
Type: Family
Description: Intermembrane lipid transfer protein VPS13B (also known as Vacuolar protein sorting-associated protein 13B) may be involved in protein sorting in post Golgi membrane traffic. Mutations of the VPS13B gene cause Cohen syndrome (COH1), a rare autosomal recessive disorder characterised by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet [, ].
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Protein Coding Gene
MGI:1916380 | Vps13b
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein
Q5EBI7
Organism: Mus musculus/domesticus
Length: 509  
Fragment?: true
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Gene
105375666 | VPS13B-DT
Type: gene
Organism: human
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Protein
Q80TY5
Organism: Mus musculus/domesticus
Length: 3993  
Fragment?: false
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Protein
Q9D714
Organism: Mus musculus/domesticus
Length: 372  
Fragment?: false
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Publication
20301655 | -
       
First Author: Wang H
Year: 1993
Title: Cohen Syndrome
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Publication
32213462 | -
 
First Author: Lees JA
Year: 2020
Journal: Curr Opin Cell Biol
Title: Inter-organelle lipid transfer: a channel model for Vps13 and chorein-N motif proteins.
Volume: 65
Pages: 66-71
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Publication
31218450 | J:296169
First Author: Da Costa R
Year: 2020
Journal: Cell Mol Life Sci
Title: Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.
Volume: 77
Issue: 3
Pages: 511-529
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Publication
32915983 | J:296007
First Author: Lhussiez V
Year: 2020
Journal: Invest Ophthalmol Vis Sci
Title: Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Volume: 61
Issue: 11
Pages: 18
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Protein
A0A2I3BPN3
Organism: Mus musculus/domesticus
Length: 46  
Fragment?: true
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Publication
30962439 | J:326186
First Author: Koike S
Year: 2019
Journal: Nat Commun
Title: SNAREs define targeting specificity of trafficking vesicles by combinatorial interaction with tethering factors.
Volume: 10
Issue: 1
Pages: 1608
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Publication
31495077 | J:285279
First Author: Kim MJ
Year: 2019
Journal: Exp Neurobiol
Title: Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse.
Volume: 28
Issue: 4
Pages: 485-494
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Publication
37573958 | J:339602
 
First Author: Montillot C
Year: 2023
Journal: Neurobiol Dis
Title: Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Volume: 185
Pages: 106259
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Protein Coding Gene
MGP_CAROLIEiJ_G0019731 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0021787 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0021748 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0021726 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0021754 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0021529 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1916380 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0022193 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0021045 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0021498 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0021622 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0021600 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0021691 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0021625 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0022216 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0020789 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0021101 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0019740 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0020627 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
35445787 | J:337486
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
12693553 | J:83413
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
- | J:237616
     
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
10725249 | J:60984
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
- | J:81858
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
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Publication
12904583 | J:85162
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
- | J:73796
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
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Publication
12520002 | J:91812
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
18799693 | J:142754
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
- | J:211773
     
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
- | J:342605
       
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
- | J:342604
       
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
16602821 | J:162220
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
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
- | J:78475
       
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
11217851 | J:65060
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
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:141210
     
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
14610273 | J:86696
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
- | J:60000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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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: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: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: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: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:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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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:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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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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UniProt Feature
UniProt Feature
Begin: 1
Description: Intermembrane lipid transfer protein VPS13B
Type: chain
End: 3993
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Publication
19006247 | -
First Author: Seifert W
Year: 2009
Journal: Hum Mutat
Title: Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Volume: 30
Issue: 2
Pages: E404-20
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Allele
Vps13b<tm1.2Ics> | MGI:6467991
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
DOID:0111590 | Cohen syndrome
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Genotype
Genotype
Symbol: Vps13b/Vps13b
Background: involves: C57BL/6N
Zygosity: hm
Has Mutant Allele: true
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Protein
A1ILH3
Organism: Mus musculus/domesticus
Length: 200  
Fragment?: true
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Protein
A0A1L1SSJ3
Organism: Mus musculus/domesticus
Length: 76  
Fragment?: true
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Protein
A1ILH2
Organism: Mus musculus/domesticus
Length: 75  
Fragment?: true
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Protein Domain
IPR026847 | VPS13
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 ofthis 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 [].
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Protein
A1ILH6
Organism: Mus musculus/domesticus
Length: 116  
Fragment?: true
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Protein
Q8C9M0
Organism: Mus musculus/domesticus
Length: 115  
Fragment?: true
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Protein
A1ILH1
Organism: Mus musculus/domesticus
Length: 172  
Fragment?: true
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Protein
A1ILG9
Organism: Mus musculus/domesticus
Length: 215  
Fragment?: true
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Protein
Q3TN78
Organism: Mus musculus/domesticus
Length: 192  
Fragment?: false
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Protein
A1ILH0
Organism: Mus musculus/domesticus
Length: 193  
Fragment?: true
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Protein
F6XI52
Organism: Mus musculus/domesticus
Length: 1078  
Fragment?: true
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Publication
21764909 | -
First Author: Samaranayake HS
Year: 2011
Journal: Eukaryot Cell
Title: Vacuolar protein sorting protein 13A, TtVPS13A, localizes to the tetrahymena thermophila phagosome membrane and is required for efficient phagocytosis.
Volume: 10
Issue: 9
Pages: 1207-18
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Publication
30741634 | -
   
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
30709847 | -
 
First Author: Muñoz-Braceras S
Year: 2019
Journal: Dis Model Mech
Title: VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation.
Volume: 12
Issue: 2
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Protein
A2RSJ4
Organism: Mus musculus/domesticus
Length: 1457  
Fragment?: false
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Publication
17196930 | -
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
A1ILI5
Organism: Mus musculus/domesticus
Length: 127  
Fragment?: true
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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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