Atp6v0a1 Gene Summary [Mouse]
Predicted to enable ATPase binding activity. Involved in synaptic vesicle lumen acidification. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 104. Orthologous to human ATP6V0A1 (ATPase H+ transporting V0 subunit a1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Atp6v0a1 |
| Official Name | ATPase, H+ transporting, lysosomal V0 subunit A1 [Source:MGI Symbol;Acc:MGI:103286] |
| Ensembl ID | ENSMUSG00000019302 |
| Bio databases IDs | |
| Aliases | ATPase, H+ transporting, lysosomal V0 subunit A1 |
| Synonyms | a1, ATP6a1, ATP6N1, ATP6N1A, ATPase, H+ transporting, lysosomal V0 subunit A1, ATPase H+ transporting V0 subunit a1, Atpv0a1, DEE104, NEDEBA, Stv1, Vacuolar proton pump subunit 1, V-ATPase subunit a1, V-ATPase V0-a1, Vph1, VPP1 |
| 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 Atp6v0a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase binding
- H+-transporting two-sector ATPase
- protein binding
- V-type ATPase 116kDa subunit family
- transporter
Pathways
Biological processes and signaling networks where the Atp6v0a1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- developmental and epileptic encephalopathy type 104
- neurodevelopmental disorder with epilepsy and brain atrophy
- hereditary disorder
- developmental epileptic encephalopathy
- infection by HIV-1
- infection by Dengue virus 2
- productive infection by HIV-1
role in cell
- cell death
- proliferation
- quantity
- accumulation in
- accumulation
- invasion by
- acidification
- acidification in
- pH
- fusion
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
- membrane fraction
- detergent resistant lipid raft fraction
- synaptic vesicle membrane
- intracellular membrane-bounded organelle
- organelle
- apical compartment
- perinuclear region
- cellular membrane
- Plasma Membrane
- vesicles
- Golgi Apparatus
- secretory granule membrane
- cytosol
- lysosome membrane
- endosomal membrane
- nuclear speckles
- synaptic vesicles
- early endosomes
- brush border
- cell membrane leading edge
- clathrin-coated vesicles
- phagosomes
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Atp6v0a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosomal lumen acidification
- lysosomal lumen acidification
- regulation of macroautophagy
- vacuolar acidification
Cellular Component
Where in the cell the gene product is active
- proton-transporting V-type ATPase complex
- nuclear speck
- Golgi apparatus
- lysosomal membrane
- plasma membrane
- secretory granule membrane
- vacuolar proton-transporting V-type ATPase, V0 domain
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- melanosome
- intracellular membrane-bounded organelle
- membrane
- vacuolar proton-transporting V-type ATPase complex
- phagocytic vesicle membrane
- cytosol
- endosome membrane
- synaptic vesicle membrane
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- proton-transporting ATPase activity, rotational mechanism
- ATPase binding