Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Overbeek PA |
Year: |
2011 |
Journal: |
MGI Direct Data Submission |
Title: |
Direct Data Submission for Overbeek Lentiviral Transgenic Lines |
|
|
|
|
•
•
•
•
•
|
Publication |
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). |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
MGC Data curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
Data Curation Using Mouse Genome Assembly |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
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). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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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 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl 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: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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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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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: |
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: |
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 |
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Protein Domain |
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 |
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 |
Organism: |
Mus musculus/domesticus |
Length: |
1457
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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: |
1510
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Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1429
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Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
177
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Fragment?: |
true |
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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: |
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 |
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 |
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 |
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 |
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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