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Search results 1 to 100 out of 133 for Vps13d

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Categories

Hits by Pathway

Hits by Strain

Hits by Category

Type Details Score
Gene
55187 | VPS13D
Type: gene
Organism: human
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Gene
567879 | vps13d
Type: gene
Organism: zebrafish
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Gene
722775 | VPS13D
Type: gene
Organism: macaque, rhesus
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Gene
100490091 | vps13d
Type: gene
Organism: frog, western clawed
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Gene
313825 | Vps13d
Type: gene
Organism: rat
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Gene
457969 | VPS13D
Type: gene
Organism: chimpanzee
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Gene
478225 | VPS13D
Type: gene
Organism: dog, domestic
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Gene
540683 | VPS13D
Type: gene
Organism: cattle
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Gene
419481 | VPS13D
Type: gene
Organism: chicken
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Protein Coding Gene
MGI:2448530 | Vps13d
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CAROLIEiJ_G0026780 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0029101 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0029068 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0029016 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0029083 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0028802 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2448530 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0029528 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0028218 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0028766 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0028914 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0028876 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0029005 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0028906 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0029565 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0027938 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0028297 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0029128 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0027772 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
     
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Absent
Sex: Female
Emaps: EMAPS:3278228
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2216147
Specimen Label: TCP_2216147
Detected: false
Specimen Num: 3
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GXD Expression
GXD Expression
     
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Absent
Sex: Female
Emaps: EMAPS:3278228
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2216148
Specimen Label: TCP_2216148
Detected: false
Specimen Num: 4
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1842628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459887
Specimen Label: TCP_2459887
Detected: true
Specimen Num: 7
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1842628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459888
Specimen Label: TCP_2459888
Detected: true
Specimen Num: 8
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1684628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459897
Specimen Label: TCP_2459897
Detected: true
Specimen Num: 17
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1684628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459898
Specimen Label: TCP_2459898
Detected: true
Specimen Num: 18
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1750328
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2216149
Specimen Label: TCP_2216149
Detected: true
Specimen Num: 5
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1750328
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2216150
Specimen Label: TCP_2216150
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1750328
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459899
Specimen Label: TCP_2459899
Detected: true
Specimen Num: 19
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1750328
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459900
Specimen Label: TCP_2459900
Detected: true
Specimen Num: 20
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459893
Specimen Label: TCP_2459893
Detected: true
Specimen Num: 13
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459894
Specimen Label: TCP_2459894
Detected: true
Specimen Num: 14
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1928728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459891
Specimen Label: TCP_2459891
Detected: true
Specimen Num: 11
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1928728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459892
Specimen Label: TCP_2459892
Detected: true
Specimen Num: 12
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1876828
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459895
Specimen Label: TCP_2459895
Detected: true
Specimen Num: 15
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1876828
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459896
Specimen Label: TCP_2459896
Detected: true
Specimen Num: 16
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GXD Expression
GXD Expression
     
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Absent
Sex: Female
Emaps: EMAPS:1832128
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2216145
Specimen Label: TCP_2216145
Detected: false
Specimen Num: 1
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GXD Expression
GXD Expression
     
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Absent
Sex: Female
Emaps: EMAPS:1832128
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2216146
Specimen Label: TCP_2216146
Detected: false
Specimen Num: 2
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GXD Expression
GXD Expression
     
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Absent
Sex: Male
Emaps: EMAPS:1929028
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459889
Specimen Label: TCP_2459889
Detected: false
Specimen Num: 9
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GXD Expression
GXD Expression
     
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Absent
Sex: Male
Emaps: EMAPS:1929028
Stage: TS28
Assay Id: MGI:6692741
Age: postnatal adult
Image: TCP_2459890
Specimen Label: TCP_2459890
Detected: false
Specimen Num: 10
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Publication
- | J:175597
     
First Author: Overbeek PA
Year: 2011
Journal: MGI Direct Data Submission
Title: Direct Data Submission for Overbeek Lentiviral Transgenic Lines
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Publication
- | J:200814
     
First Author: Toronto Centre for Phenogenomics
Year: 2013
Journal: MGI Direct Data Submission
Title: Strains and alleles submitted by Toronto Centre for Phenogenomics (NorCOMM2, funded by Genome Canada and Ontario Genomics Institute OGI-051).
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Publication
10512203 | J:93290
First Author: Araki K
Year: 1999
Journal: Cell Mol Biol (Noisy-le-grand)
Title: Exchangeable gene trap using the Cre/mutated lox system.
Volume: 45
Issue: 5
Pages: 737-50
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Publication
15840001 | J:110088
First Author: Taniwaki T
Year: 2005
Journal: Dev Growth Differ
Title: Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette.
Volume: 47
Issue: 3
Pages: 163-72
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Publication
- | J:77000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: MGC Data curation in Mouse Genome Informatics
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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
24194600 | J:228563
First Author: Koscielny G
Year: 2014
Journal: Nucleic Acids Res
Title: The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Volume: 42
Issue: Database issue
Pages: D802-9
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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
- | J:204739
     
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
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Publication
- | J:204812
     
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
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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
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: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
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: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
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
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: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
- | 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: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: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: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: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: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
- | 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:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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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: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: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: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
29307555 | -
First Author: Anding AL
Year: 2018
Journal: Curr Biol
Title: Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance.
Volume: 28
Issue: 2
Pages: 287-295.e6
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DO Term
DOID:0111611 | autosomal recessive spinocerebellar ataxia 4
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Protein Domain
IPR041969 | VP13D_UBA
Type: Domain
Description: This entry represents the UBA domain of the intermembrane lipid transfer protein VP13D (also known as vacuolar protein sorting-associated protein 13D), which is a ubiquitin-binding protein that contains two putative domains, ubiquitin-associated (UBA) domain and lectin domain of ricin B chain profile (ricin-B-lectin) []. The UBA domain of Vps13D has been shown to bind K63 ubiquitin chains. Vps13D plays important roles in mitochondrial health and development. It is also necessary for autophagy, mitochondrial size, and mitochondrial clearance in Drosophila [].
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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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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
Q570Z6
Organism: Mus musculus/domesticus
Length: 1510  
Fragment?: true
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Protein
B2KF50
Organism: Mus musculus/domesticus
Length: 1429  
Fragment?: false
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Protein
A0A3B2WCQ2
Organism: Mus musculus/domesticus
Length: 177  
Fragment?: true
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Publication
15498460 | -
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
30952800 | -
First Author: Valverde DP
Year: 2019
Journal: J Cell Biol
Title: ATG2 transports lipids to promote autophagosome biogenesis.
Volume: 218
Issue: 6
Pages: 1787-1798
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Protein Domain
IPR031646 | VPS13_N2
Type: Domain
Description: This domain lies towards the N terminus, just downstream from . This domain is involved in lipid binding and transport [, , ]. This domain specifically interacts with phosphatidic acid and phosphorylated forms of phosphatidyl inositol [].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 [, ].
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Protein Domain
IPR031645 | VPS13_DH-like
Type: Domain
Description: This entry represents a domain reminiscent of a DH domain (DH-Like domain) found adjacent the C-terminal PH-like domain of VPS13 proteins [, , , ]. DHL-PH domains has been identified as the mitochondria-binding region of VPS13A and the lipid droplet-binding region of both proteins. These two domains contain a region of high similarity to ATG2, which also binds lipid droplets [, ].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 [, ].
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Protein Domain
IPR031642 | VPS13_mid_rpt
Type: Domain
Description: This entry represents the repeating region of VPS13. This repeating region shares a common core element that includes a well-conserved P-X4-P-X13-17-G sequence [, ]. This region contains a FFAT motif which mediates VAMP binding and tethering of the ER.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 [, ].
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Protein Domain
IPR026854 | VPS13-like_N
Type: Domain
Description: This is the N-terminal chorein domain of VPS13 and ATG2 proteins, which is highly conserved. ATG2 proteins are involved in autophagosome assembly, playing a key role in nonvesicular lipid transfer [, , , ]. This domain has a scoop 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 [, ].
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