Vps53 Gene Summary [Mouse]
Involved in protein targeting to lysosome and vesicle-mediated cholesterol transport. Predicted to be located in several cellular components, including perinuclear region of cytoplasm; recycling endosome; and trans-Golgi network. Predicted to be part of EARP complex and GARP complex. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2E. Orthologous to human VPS53 (VPS53 subunit of GARP complex). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Vps53 |
| Official Name | VPS53 GARP complex subunit [Source:MGI Symbol;Acc:MGI:1915549] |
| Ensembl ID | ENSMUSG00000017288 |
| Bio databases IDs | |
| Aliases | VPS53 GARP complex subunit |
| Synonyms | 2010002A08Rik, 2310040I21Rik, 3100002B05Rik, FLJ10979, HCCS1, hVps53L, PCH2E, PP13624, RGD1311391, VPS53 GARP complex subunit, VPS53 subunit of GARP complex |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Vps53 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Vps53-like, N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- prostate cancer
- non-insulin-dependent diabetes mellitus
- non-syndromic congenital pontocerebellar hypoplasia
- prostatic carcinoma
- epithelial cancer
- growth failure
- pontocerebellar hypoplasia type 2E
- systemic juvenile idiopathic arthritis
- congenital dislocation of hip
- infection by HIV-1
regulated by
- KAT5
- p30II
role in cell
- viral entry
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- perinuclear region
- cellular membrane
- Golgi Apparatus
- cytosol
- Golgi membrane
- trans Golgi network
- endosomal membrane
- recycling endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Vps53 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosomal transport
- protein targeting to lysosome
- retrograde transport, endosome to Golgi
- endocytic recycling
- vesicle-mediated cholesterol transport
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- GARP complex
- intracellular membrane-bounded organelle
- membrane
- cytosol
- Golgi apparatus
- endosome membrane
- recycling endosome
- trans-Golgi network membrane
Molecular Function
What the gene product does at the molecular level
- protein binding