VPS13D Gene Summary [Human]
This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | VPS13D |
| Official Name | vacuolar protein sorting 13 homolog D [Source:HGNC Symbol;Acc:HGNC:23595] |
| Ensembl ID | ENSG00000048707 |
| Bio databases IDs | |
| Aliases | vacuolar protein sorting 13 homolog D, bridge-like lipid transfer protein family member 5D |
| Synonyms | BC037490, BLTP5D, SCA24, SCAR4, SCASI, vacuolar protein sorting 13D, vacuolar protein sorting 13 homolog D |
| 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 VPS13D often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UBA domain-like superfamily
- SHR-binding domain of vacuolar-sorting associated protein 13
- Vacuolar-sorting-associated 13 protein C-terminal
- Repeating coiled region of VPS13
- N-terminal region of Chorein or VPS13
- Vacuolar sorting-associated protein 13, N-terminal
- ricin B-type lectin domain, beta-trefoil fold
- lipid transfer domain
- transporter
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 spinocerebellar ataxia type 4
- hereditary disorder
- cleft lip
- Leigh syndrome
- autosomal recessive cerebellar ataxia
- spinocerebellar ataxia type 4
- atrophic gastritis
- spinocerebellar ataxia
regulated by
- RHOT
- CDK4/6
- CCND1
- protein-protein complex
regulates
- fatty acid
- MAPT
- phosphatidylcholine
role in cell
- morphology
- loss
- organization
- loss in
- aggregation in
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
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VPS13D 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
- protein targeting to vacuole
- mitochondrion organization
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome