ATP6V1C1 Gene Summary [Human]
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ATP6V1C1 |
| Official Name | ATPase H+ transporting V1 subunit C1 [Source:HGNC Symbol;Acc:HGNC:856] |
| Ensembl ID | ENSG00000155097 |
| Bio databases IDs | |
| Aliases | ATPase H+ transporting V1 subunit C1, V-ATPase subunit C1 |
| Synonyms | 1700025B18Rik, ATP6C, ATP6D, ATPase, H+ transporting, lysosomal V1 subunit C1, ATPase H+ transporting V1 subunit C1, VATC, V-ATPase V1-C1, Vma5 |
| 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 ATP6V1C1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hydrogen-transporting ATPase activity, rotational mechanism
- protein binding
- transporter
- Subunit C of vacuolar H+-ATPase (V-ATPase)
Pathways
Biological processes and signaling networks where the ATP6V1C1 gene in human 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
- androgenic alopecia
- septic shock
- neonatal late-onset sepsis
- deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
- obstructive sleep apnea
role in cell
- migration
- acidification in
- survival
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
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- apical compartment
- cellular membrane
- Plasma Membrane
- cytosol
- synaptic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP6V1C1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of macroautophagy
Cellular Component
Where in the cell the gene product is active
- proton-transporting two-sector ATPase complex
- vacuolar proton-transporting V-type ATPase, V1 domain
- extracellular vesicular exosome
- apical part of cell
- cytosol
- plasma membrane
- lysosomal membrane
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- proton-transporting ATPase activity, rotational mechanism