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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATP6V1G1
ATPase H+ transporting V1 subunit G1
Chromosome 9 · 9q32
NCBI Gene: 9550Ensembl: ENSG00000136888.9HGNC: HGNC:864UniProt: O75348
89PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomal membraneplasma membraneintracellular iron ion homeostasisextracellular exosomejoint diseasenervous system diseasemetabolic syndromeglioblastoma multiforme
✦AI Summary

ATP6V1G1 encodes the G1 subunit of the vacuolar H+-ATPase (V-ATPase) V1 complex, which is essential for acidifying intracellular compartments including lysosomes, autophagosomes, and late endosomes 1. The protein plays a critical role in autophagy by maintaining proper autophagosome acidification, as demonstrated by studies showing that UBQLN2 mutations in ALS/FTD impair autophagy through reduced ATP6V1G1 expression and V-ATPase activity 2. ATP6V1G1 is involved in lysosomal protein degradation, with its dysfunction leading to α-synuclein accumulation in Parkinson's disease models 3. The protein also regulates late endosomal pH and Rab7 activation through interactions with RILP, influencing endosomal trafficking and mannose-6-phosphate receptor recycling 1. In systemic lupus erythematosus, ATP6V1G1 expression is regulated by the m6A demethylase FTO and affects age-associated B cell differentiation through lysosomal autophagy modulation 4. Genome-wide association studies have identified ATP6V1G1 as a pleiotropic locus associated with both bone mineral density and age at menarche, suggesting broader physiological roles 5. The protein's dysfunction has been implicated in multiple diseases including neurodegenerative disorders, autoimmune diseases, and metabolic bone disease.

Sources cited
1
ATP6V1G1 is the G1 subunit of V-ATPase V1 complex essential for acidifying intracellular compartments and regulates late endosomal pH and Rab7 activation through RILP interactions
PMID: 38578235
2
ATP6V1G1 plays a critical role in autophagy by maintaining autophagosome acidification, with reduced expression leading to impaired autophagic flux in ALS/FTD
PMID: 32513711
3
ATP6V1G1 dysfunction leads to impaired lysosomal acidification and α-synuclein accumulation in Parkinson's disease models
PMID: 38702933
4
ATP6V1G1 expression is regulated by FTO and affects age-associated B cell differentiation through lysosomal autophagy modulation in systemic lupus erythematosus
PMID: 41191778
5
ATP6V1G1 is a pleiotropic locus associated with both bone mineral density and age at menarche in genome-wide association studies
PMID: 26312577
Disease Associationsⓘ20
joint diseaseOpen Targets
0.22Weak
nervous system diseaseOpen Targets
0.14Weak
metabolic syndromeOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
ovarian dysfunctionOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
gliomaOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
osteoarthritis, hipOpen Targets
0.02Suggestive
small bowel Crohn's diseaseOpen Targets
0.02Suggestive
bacteriemiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
osteoporosisOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
HepatitisOpen Targets
0.01Suggestive
asthmaOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP6V1B1Protein interaction100%ATP6V0CProtein interaction100%ATP6V1E1Protein interaction100%ATP6V0BProtein interaction100%ATP6AP1Protein interaction100%LAMTOR3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
70%
Brain
66%
Ovary
52%
Liver
50%
Lung
48%
Gene Interaction Network
Click a node to explore
ATP6V1G1ATP6V1B1ATP6V0CATP6V1E1ATP6V0BATP6AP1LAMTOR3
PROTEIN STRUCTURE
Preparing viewer…
PDB6WLZ · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.47 [0.95–1.92]
RankingsWhere ATP6V1G1 stands among ~20K protein-coding genes
  • #5,350of 20,598
    Most Researched89
  • #17,406of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedATP6V1G1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Plasma exosomes impair microglial degradation of α-synuclein through V-ATPase subunit V1G1.
PMID: 38702933
CNS Neurosci Ther · 2024
1.00
2
The m
PMID: 41191778
Sci Transl Med · 2025
0.90
3
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.
PMID: 32513711
Proc Natl Acad Sci U S A · 2020
0.80
4
Analysis of the toxicity and mechanisms of osteoporosis caused by cigarette toxicants using network toxicology and molecular docking techniques.
PMID: 40925315
Sci Total Environ · 2025
0.70
5
Identification and validation of cuproptosis and disulfidptosis related genes in colorectal cancer.
PMID: 38643947
Cell Signal · 2024
0.60