ATP6V1F Gene - V-ATPase Subunit F
Essential component of vacuolar ATPase, involved in acidification of intracellular compartments
Gene Information Card
| Symbol | ATP6V1F |
|---|---|
| Full Name | ATPase H+ Transporting V1 Subunit F |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.1 |
| NCBI Gene ID | 9296 ncbi.nlm.nih.gov/gene/9296 |
| Ensembl ID | ENSG00000128524 |
| UniProt ID | Q16864 |
| OMIM ID | 607862 |
| HGNC ID | 857 |
| Aliases | VATF, Vma7, ATP6S14 |
Description
ATP6V1F encodes subunit F of the vacuolar ATPase (V-ATPase) V1 domain. V-ATPase is a multisubunit enzyme that mediates acidification of intracellular organelles such as lysosomes, endosomes, and Golgi vesicles. Subunit F is part of the peripheral V1 complex responsible for ATP hydrolysis. Proper acidification is critical for protein degradation, receptor recycling, and neurotransmitter uptake. Dysregulation of V-ATPase is linked to cancer, neurodegenerative diseases, and lysosomal storage disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysosomal storage diseases | Impaired lysosomal acidification due to V-ATPase dysfunction leads to accumulation of undegraded substrates | PMID: 25613900 |
| Renal tubular acidosis | Defects in V-ATPase subunits cause impaired acid secretion in kidney | PMID: 11897757 |
| Cancer (multiple types) | Altered V-ATPase expression and activity promote tumor invasion and drug resistance | PMID: 23541922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Brain | 8.3 | Medium |
| Liver | 6.1 | Medium |
| Heart | 5.4 | Medium |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | High expression |
| MCF7 | 9.5 | Medium expression |
| A549 | 7.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.124C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.124C>T) likely cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations 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) | • lysosome (GO:0005764) |
| • vacuolar transport (GO:0007034) |
Pathways
• KEGG: hsa00190 - Oxidative phosphorylation
• KEGG: hsa04142 - Lysosome
• Reactome: R-HSA-1222556 - Proton transport by V-ATPase
Protein Summary
Subunit F of the V-ATPase V1 domain is a 14 kDa protein (119 amino acids) that forms part of the peripheral stalk connecting V1 and V0 domains. It is essential for assembly and catalytic activity of the enzyme. The protein is highly conserved across eukaryotes. Structural studies show it adopts an alpha-helical bundle that interacts with other V1 subunits.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V1F Knockout HEK293 Cell Line | EDJ-KQ50860 | Human | 9296 | Details Get a Quote |
| ATP6V1F Knockout HeLa Cell Line | EDJ-KQ55124 | Human | 9296 | Details Get a Quote |
| ATP6V1F Knockout A-549 Cell Line | EDJ-KQ63604 | Human | 9296 | Details Get a Quote |
| ATP6V1F Knockout HCT 116 Cell Line | EDJ-KQ72068 | Human | 9296 | Details Get a Quote |
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