ATP6V1C1 Gene: V-ATPase Subunit C1
Essential regulator of vacuolar acidification and cellular pH homeostasis
Gene Information Card
| Symbol | ATP6V1C1 |
|---|---|
| Full Name | ATPase H+ transporting V1 subunit C1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 528 ncbi.nlm.nih.gov/gene/528 |
| Ensembl ID | ENSG00000155097 |
| UniProt ID | P21283 |
| OMIM ID | 603931 |
| HGNC ID | 855 |
| Aliases | VATC1, Vma5, ATP6C, ATP6D, V-ATPase C1 |
Description
The ATP6V1C1 gene encodes subunit C1 of the V1 domain of vacuolar ATPase (V-ATPase), a multi-subunit enzyme that acidifies intracellular organelles such as lysosomes, endosomes, and secretory vesicles. Subunit C is a peripheral component of the V1 complex and is essential for assembly and catalytic activity. V-ATPase-mediated acidification is critical for protein degradation, receptor recycling, neurotransmitter uptake, and bone resorption.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis | Impaired V-ATPase function leads to defective acid secretion in renal intercalated cells | OMIM #603931 |
| Osteopetrosis | Loss of V-ATPase activity in osteoclasts disrupts bone resorption | OMIM #259700 |
| Cancer (multiple types) | Altered V-ATPase expression promotes tumor invasion and drug resistance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.1 | Medium |
| Lung | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.4 | High expression |
| HeLa | 25.1 | High expression |
| A549 | 18.6 | Medium expression |
| MCF7 | 14.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.416G>A (p.Arg139Gln) | Missense | Rare | Reduced V-ATPase assembly and activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
| c.1030C>T (p.Arg344*) | Nonsense | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations impair V-ATPase assembly or catalytic activity, leading to defective acidification.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • vacuolar proton-transporting V-type ATPase (GO:0000221) | • ATP binding (GO:0005524) |
| • ATP hydrolysis coupled proton transport (GO:0015991) | • vacuolar transport (GO:0007034) |
| • lysosomal lumen acidification (GO:0043202) |
Pathways
• V-ATPase-mediated acidification (Reactome: R-HSA-1222556)
• Lysosome (KEGG: hsa04142)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
ATP6V1C1 encodes the C1 subunit of the V1 peripheral domain of vacuolar ATPase. This subunit is required for V1 domain assembly and couples ATP hydrolysis to proton translocation. The protein is expressed in all tissues, with highest levels in kidney and brain. Mutations cause renal tubular acidosis and osteopetrosis, and altered expression is linked to cancer progression.
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