Vps13a Gene Summary [Mouse]
Acts upstream of or within several processes, including brain-derived neurotrophic factor receptor signaling pathway; long-term synaptic depression; and myeloid cell differentiation. Located in Golgi apparatus; neuronal dense core vesicle lumen; and sperm midpiece. Is active in several cellular components, including endoplasmic reticulum; mitochondrion; and neuronal cell body. Is expressed in central nervous system; retina; and thymus primordium. Used to study choreaacanthocytosis. Human ortholog(s) of this gene implicated in choreaacanthocytosis and choreatic disease. Orthologous to human VPS13A (vacuolar protein sorting 13 homolog A). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Vps13a |
| Official Name | vacuolar protein sorting 13A [Source:MGI Symbol;Acc:MGI:2444304] |
| Ensembl ID | ENSMUSG00000046230 |
| Bio databases IDs | |
| Aliases | vacuolar protein sorting 13A |
| Synonyms | 4930425F11, 4930516E05RIK, 4930543C13RIK, 9930023P20, BLTP5A, CHAC, CHOREIN, D330038K10Rik, mKIAA0986, RGD1311340, vacuolar protein sorting 13A, vacuolar protein sorting 13 homolog A |
| 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 Vps13a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 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
- protein binding
- Autophagy-related protein C terminal 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
- asthenozoospermia
- choreaacanthocytosis
- organismal death
- gait disturbance
- gliosis
- acanthocytosis
- anisopoikilocytosis
role in cell
- apoptosis
- differentiation
- accumulation in
- acetylation in
- cell viability
- survival
- depolarization
- morphology
- accumulation
- response by
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
- endoplasmic reticulum mitochondria contact site
- secretory granule lumen
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- lipid droplets
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrial outer membrane
- lysosome membrane
- endosomal membrane
- sperm midpiece
- neurites
- secretory granules
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Vps13a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- social behavior
- protein retention in Golgi apparatus
- lipid transport
- locomotory behavior
- sperm motility
- autophagy
- sperm mitochondrion organization
- protein localization
- nervous system development
- protein targeting to vacuole
- Golgi to endosome transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- lipid particle
- mitochondrial membrane
- sperm midpiece
- cytosol
- ER-mitochondrion membrane contact site
- endosome membrane
- Golgi apparatus
- mitochondrial outer membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding