ATP6V1C1
Description
The ATP6V1C1 (ATPase H+ transporting V1 subunit C1) is a protein-coding gene located on chromosome 8.
The ATP6V1C1 gene encodes a subunit of the vacuolar ATPase (V-ATPase), a multisubunit enzyme responsible for acidifying intracellular compartments in eukaryotic cells. V-ATPase consists of two domains: the V1 domain, which contains the ATP catalytic site, and the V0 domain, which spans the membrane. The V1 domain is composed of subunits A, B, G, C, D, E, F, and H, while the V0 domain comprises subunits a, c, c', c'', and d. ATP6V1C1 encodes one of two subunits that form the V1 domain C subunit proteins. This subunit is analogous but not homologous to the gamma subunit of F-ATPases.
This protein is a subunit of the V1 complex of vacuolar H+-ATPase (V-ATPase), a multisubunit enzyme that hydrolyzes ATP and translocates protons. V-ATPase is essential for acidifying and maintaining the pH of intracellular compartments. In some cell types, V-ATPase is targeted to the plasma membrane, where it acidifies the extracellular environment. Subunit C is crucial for the assembly of the catalytic sector of the enzyme and likely plays a specific role in its catalytic activity.
ATP6V1C1 is also known as ATP6C, ATP6D, VATC, Vma5.
Associated Diseases
- Alzheimer disease
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- thyroid gland adenocarcinoma
- breast cancer
- hemoglobin D disease
- hemoglobin E disease
- cancer
- monosomy 7 myelodysplasia and leukemia syndrome 1
