ATP6V1G3: V-type proton ATPase subunit G 3
A subunit of the vacuolar ATPase involved in acidification of intracellular compartments, with implications in renal function and cancer.
Gene Information Card
| Symbol | ATP6V1G3 |
|---|---|
| Full Name | ATPase H+ transporting V1 subunit G3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 127124 ncbi.nlm.nih.gov/gene/127124 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q96LB4 |
| OMIM ID | 618123 |
| HGNC ID | 18282 |
| Aliases | VMA10, ATP6G3, V-ATPase G3 subunit |
Description
ATP6V1G3 encodes a component of the vacuolar ATPase (V-ATPase), a multi-subunit enzyme that mediates acidification of intracellular organelles such as lysosomes, endosomes, and secretory vesicles. The G3 subunit is part of the V1 domain, which catalyzes ATP hydrolysis to drive proton transport. This gene is specifically expressed in kidney and is implicated in renal acid-base balance. Alterations in ATP6V1G3 expression have been associated with renal tubular acidosis and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis | Defective V-ATPase function impairs proton secretion in kidney intercalated cells, leading to metabolic acidosis. | ClinVar, OMIM |
| Clear cell renal cell carcinoma | Altered V-ATPase subunit expression may contribute to tumor microenvironment acidification and progression. | COSMIC, PubMed |
| Breast cancer | Dysregulation of V-ATPase subunits, including ATP6V1G3, has been linked to invasion and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Testis | 3.2 | Medium |
| Lung | 1.8 | Low |
| Brain | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | Embryonic kidney cell line |
| A549 | 2.1 | Lung carcinoma |
| MCF7 | 1.5 | Breast cancer |
| HepG2 | 0.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.124G>A (p.Gly42Ser) | Missense | <0.01% | Likely benign |
| c.456_457insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially impairing V-ATPase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ATP6V1G3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
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 acidification (GO:0007035) |
Pathways
• V-ATPase mediated acidification (Reactome: R-HSA-1222556)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
ATP6V1G3 encodes the G3 subunit of the V1 domain of vacuolar ATPase. This 118-amino acid protein is essential for assembly and catalytic activity of the V-ATPase complex. It is highly expressed in kidney, where it contributes to urinary acidification. The protein interacts with other V1 subunits to form a functional ATPase motor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V1G3 Knockout HEK293 Cell Line | EDJ-KQ1146 | Human | 127124 | Details Get a Quote |
| ATP6V1G3 Knockout HeLa Cell Line | EDJ-KQ58202 | Human | 127124 | Details Get a Quote |
| ATP6V1G3 Knockout A-549 Cell Line | EDJ-KQ66691 | Human | 127124 | Details Get a Quote |
| ATP6V1G3 Knockout HCT 116 Cell Line | EDJ-KQ75105 | Human | 127124 | Details Get a Quote |
