Vps13d Gene Summary [Mouse]
Predicted to be involved in mitochondrion organization; positive regulation of mitophagy; and protein localization to organelle. Is expressed in adrenal gland; liver; male reproductive gland or organ; pancreas; and thymus. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 4. Orthologous to human VPS13D (vacuolar protein sorting 13 homolog D). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Vps13d |
| Official Name | vacuolar protein sorting 13D [Source:MGI Symbol;Acc:MGI:2448530] |
| Ensembl ID | ENSMUSG00000020220 |
| Bio databases IDs | |
| Aliases | vacuolar protein sorting 13D |
| Synonyms | BC037490, BLTP5D, SCA24, SCAR4, SCASI, vacuolar protein sorting 13D, vacuolar protein sorting 13 homolog D |
| 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 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 mouse 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