| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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) |
|
|
|
|
•
•
•
•
•
|
| 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: |
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: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2003 |
|
| Title: |
Data Curation Using Mouse Genome Assembly |
|
|
|
|
•
•
•
•
•
|
| 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: |
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) |
|
|
|
|
•
•
•
•
•
|
| 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: |
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 |
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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: |
Adams DJ |
| Year: |
2024 |
| Journal: |
Nature |
| Title: |
Genetic determinants of micronucleus formation in vivo. |
| Volume: |
627 |
| Issue: |
8002 |
| Pages: |
130-136 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGD Nomenclature Committee |
| Year: |
1995 |
|
| Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| 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: |
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: |
GOA curators |
| Year: |
2016 |
|
| Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2003 |
|
| Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
| 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: |
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 |
|
•
•
•
•
•
|
| 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: |
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: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| 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. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| UniProt Feature |
| Begin: |
1 |
| Description: |
Intermembrane lipid transfer protein VPS13B |
| Type: |
chain |
| End: |
3993 |
|
•
•
•
•
•
|
| Allele |
| Name: |
vacuolar protein sorting 13B; targeted mutation 1.2, Mouse Clinical Institute |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Vps13b/Vps13b |
| Background: |
involves: C57BL/6N |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
43
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| 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). |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
757
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
76
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
148
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
75
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
200
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
232
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
147
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
127
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
857
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1186
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
921
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
771
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
215
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
193
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
172
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
116
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1078
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
192
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
115
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
2339
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
|
•
•
•
•
•
|
| 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 []. |
|
•
•
•
•
•
|
| 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 []. |
|
•
•
•
•
•
|
| 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 []. |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3166
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3748
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3748
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| 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 |
|
|
•
•
•
•
•
|
| 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 |
|
|
|
•
•
•
•
•
|
| 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 |
|
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
4390
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
4359
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1918
 |
| Fragment?: |
true |
|
•
•
•
•
•
|