ATP6V1C1
Chr 8ATPase H+ transporting V1 subunit C1
Also known as: ATP6C, ATP6D, VATC, Vma5
This protein is a subunit of vacuolar ATPase (V-ATPase) that hydrolyzes ATP to acidify intracellular compartments, which is essential for protein sorting, endocytosis, and synaptic vesicle function. Mutations cause autosomal recessive neuronal ceroid lipofuscinosis, a progressive neurodegenerative disorder affecting the brain with childhood onset. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
104 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 38 | 0 | 39 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 37 | 5 | 0 | 42 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 38 | 45 | 1 | 84 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATP6V1C1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools