VPS13C Gene Summary [Human]
Involved in mitochondrion organization and negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization. Located in cytosol and mitochondrial outer membrane. Implicated in Parkinson's disease 23. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | VPS13C |
| Official Name | vacuolar protein sorting 13 homolog C [Source:HGNC Symbol;Acc:HGNC:23594] |
| Ensembl ID | ENSG00000129003 |
| Bio databases IDs | |
| Aliases | vacuolar protein sorting 13 homolog C, bridge-like lipid transfer protein family member 5C |
| Synonyms | AI552542, AV026040, BLTP5C, C230055H22RIK, chorein, FLJ20136, PARK23, RGD1560364, vacuolar protein sorting 13C, vacuolar protein sorting 13 homolog C |
| 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 VPS13C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SHR-binding domain of vacuolar-sorting associated protein 13
- Vacuolar-sorting-associated 13 protein C-terminal
- N-terminal region of Chorein or VPS13
- Repeating coiled region of VPS13
- Vacuolar sorting-associated protein 13, N-terminal
- Autophagy-related protein C terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive early-onset parkinson disease 23
- early-onset Parkinson disease
- metabolic syndrome X
- Parkinson disease
- non-insulin-dependent diabetes mellitus
regulates
- D-glucose
role in cell
- organization
- morphology
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
- lysosome
- secretory granule membrane
- lipid droplets
- cytosol
- endoplasmic reticulum membrane
- mitochondrial outer membrane
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VPS13C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein retention in Golgi apparatus
- lipid transport
- response to insulin stimulus
- protein targeting to vacuole
- Golgi to endosome transport
- mitochondrion organization
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
- late endosome membrane
- extracellular vesicular exosome
- cytoplasm
- late endosome
- cytosol
- mitochondrial outer membrane
- lysosomal membrane
- dense core granule membrane
- lysosome