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MIRAGE
vacuolar protein sorting 13 homolog A
Summary
- Gene Symbol
-
- VPS13A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cytoplasmic vesicle
- Disease variant
- Endoplasmic reticulum
- Endosome
- Epilepsy
- Golgi apparatus
- Lipid droplet
- Lipid transport
- Lysosome
- Mitochondrion outer membrane
- Neurodegeneration
- Phosphoprotein
- Reference proteome
- Repeat
- TPR repeat
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96RL7 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein targeting to vacuole | ||
| lipid transport | ||
| Golgi to endosome transport | ||
| autophagy | ||
| autophagy |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi apparatus | ||
| lipid droplet | ||
| cytosol | ||
| endosome membrane | ||
| mitochondrial membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Vacuolar sorting-associated
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| late endosome to vacuole transport |
| mitochondrion organization |
| protein retention in Golgi apparatus |
| protein targeting to vacuole |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050766 | choreaacanthocytosis | |
| DOID:12859 | choreatic disease |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 23230 | Xenbase:XB-GENE-989613 | ||
| 54832 | SGD:S000003963 | ||
| 271564 | Xenbase:XB-GENE-989613 | MOUSE26542 | |
| 309243 | RATNO16035 | ||
| 320528 | SGD:S000003963 | ||
| 378837 | DANRE43085 | ||
| 464538 | PANTR44150 | ||
| 476319 | CANLF00412 | ||
| 705323 | MACMU13130 | ||
| 100080752 | ORNAN31972 |
