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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATP6V1F
ATPase H+ transporting V1 subunit F
Chromosome 7 · 7q32.1
NCBI Gene: 9296Ensembl: ENSG00000128524.5HGNC: HGNC:16832UniProt: A4D1K0
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
vacuolar proton-transporting V-type ATPase complexextracellular exosomeprotein bindingmembraneneurodegenerative diseasehepatocellular carcinomacongestive heart failuresystolic heart failure
✦AI Summary

ATP6V1F encodes a V1 subunit of vacuolar H+-ATPase (V-ATPase), a multisubunit enzyme complex responsible for acidifying intracellular compartments and maintaining organellar pH 1. As a constituent of the V1 domain, ATP6V1F couples ATP hydrolysis to proton translocation across membranes, enabling critical cellular processes including zymogen activation, receptor-mediated endocytosis, protein sorting, and lysosomal-autophagosome fusion 2. The gene is also targeted to plasma membranes in certain cell types for extracellular acidification. Disease relevance spans multiple malignancies. ATP6V1F is upregulated in hepatocellular carcinoma, correlating with poor prognosis and immune checkpoint expression; its overexpression promotes HCC cell migration, invasion, and inhibits apoptosis 2. In kidney renal clear cell carcinoma, lower ATP6V1F expression associates with advanced cancer stages and shorter overall survival 3. ATP6V1F participates in colorectal cancer progression through lncRNA-mediated ceRNA mechanisms, particularly in rectal cancer metastasis 4. Additionally, dysregulation appears implicated in early Alzheimer's disease pathogenesis via miRNA-mediated regulatory networks 5. Beyond oncology, ATP6V1F dysfunction contributes to arsenic-induced renal injury through altered oxidative phosphorylation pathways 6, and altered expression occurs in H. pylori-associated chr7 atrophic gastritis, suggesting mitochondrial metabolic dysfunction in host-pathogen interactions 7. These findings position ATP6V1F as a biomarker for disease prognosis and potential therapeutic target across multiple pathological contexts.

Sources cited
1
ATP6V1F is a V1 subunit of V-ATPase composed of peripheral (V1) and membrane integral (V0) complexes that hydrolyzes ATP and translocates protons
PMID: 33065002
2
ATP6V1F is overexpressed in hepatocellular carcinoma, associated with poor prognosis, immune cell infiltration, and promotes HCC cell migration, invasion, and inhibits apoptosis
PMID: 37587505
3
Lower ATP6V1F expression in kidney renal clear cell carcinoma associates with advanced clinical stages and shorter overall survival
PMID: 33194650
4
ATP6V1F participates in rectal cancer metastasis through SNHG1/let-7b-5p/ATP6V1F ceRNA axis and is related to cancer prognosis
PMID: 33194594
5
ATP6V1F is competitively regulated by lncRNAs and miRNAs as a potential biomarker in early-stage Alzheimer's disease
PMID: 38429903
6
ATP6V1F expression is altered in arsenic-induced renal injury associated with oxidative phosphorylation pathway dysfunction
PMID: 38266420
7
ATP6V1F is differentially expressed in H. pylori-related chronic atrophic gastritis, implicated in oxidative phosphorylation and epithelial cell signaling
PMID: 19426391
8
V-ATPase components including ATP6V1F are required for lysosomal acidification and autophagy-lysosomal fusion in colitis-associated colorectal cancer
PMID: 40205686
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
hepatocellular carcinomaOpen Targets
0.05Suggestive
congestive heart failureOpen Targets
0.03Suggestive
systolic heart failureOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
post-traumatic stress disorderOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
rectum cancerOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
candidiasisOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP6V1C1Protein interaction100%ATP6V1G2Protein interaction100%ATP6V0E1Protein interaction100%ATP6V0D1Protein interaction100%ATP5F1AProtein interaction100%ATP5F1CProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
59%
Lung
49%
Heart
38%
Ovary
28%
Liver
26%
Gene Interaction Network
Click a node to explore
ATP6V1FATP6V1C1ATP6V1G2ATP6V0E1ATP6V0D1ATP5F1AATP5F1C
PROTEIN STRUCTURE
Preparing viewer…
PDB6WLZ · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.10Tolerant
Observed/Expected LoF0.57 [0.28–1.29]
RankingsWhere ATP6V1F stands among ~20K protein-coding genes
  • #6,964of 20,598
    Most Researched67
  • #13,583of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedATP6V1F
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ATP6V1F is a novel prognostic biomarker and potential immunotherapy target for hepatocellular carcinoma.
PMID: 37587505
BMC Med Genomics · 2023
1.00
2
Neutrophil-derived serine proteases induce FOXA2-mediated autophagy dysfunction and exacerbate colitis-associated carcinogenesis via protease activated receptor 2.
PMID: 40205686
Autophagy · 2025
0.90
3
Identification of key regulatory molecules in the early development stage of Alzheimer's disease.
PMID: 38429903
J Cell Mol Med · 2024
0.80
4
Up-regulated expression of the MAT-8 gene in prostate cancer and its siRNA-mediated inhibition of expression induces a decrease in proliferation of human prostate carcinoma cells.
PMID: 14654946
Int J Oncol · 2004
0.70
5
PMID: 40727388
0.60