VPS53 Gene Summary [Human]
Involved in endocytic recycling and retrograde transport, endosome to Golgi. Acts upstream of or within lysosomal transport. Located in several cellular components, including Golgi apparatus; perinuclear region of cytoplasm; and recycling endosome. Part of EARP complex and GARP complex. Implicated in pontocerebellar hypoplasia type 2E. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Processed Transcript |
| Official Symbol | VPS53 |
| Official Name | VPS53 subunit of GARP complex [Source:HGNC Symbol;Acc:HGNC:25608] |
| Ensembl ID | ENSG00000141252 |
| Bio databases IDs | |
| Aliases | VPS53 subunit of GARP complex, hepatocellular carcinoma suppressor 1 |
| Synonyms | 2010002A08Rik, 2310040I21Rik, 3100002B05Rik, FLJ10979, HCCS1, hVps53L, PCH2E, PP13624, RGD1311391, VPS53 GARP complex subunit, VPS53 subunit of GARP complex |
| Species | Human, Homo sapiens |
| 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 human 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 human 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