ATP6V1E1: V-type proton ATPase subunit E 1
A key component of the vacuolar ATPase complex involved in acidification and linked to renal tubular acidosis and cancer
Gene Information Card
| Symbol | ATP6V1E1 |
|---|---|
| Full Name | ATPase H+ transporting V1 subunit E1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 529 ncbi.nlm.nih.gov/gene/529 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | P36543 |
| OMIM ID | 108746 |
| HGNC ID | 857 |
| Aliases | ATP6E, ATP6V1E, Vma4, 32kDa |
Description
ATP6V1E1 encodes the E1 subunit of the vacuolar ATPase (V-ATPase) V1 domain, which is responsible for acidifying intracellular compartments and extracellular environments. This proton pump is essential for processes such as protein degradation, neurotransmitter uptake, and renal acid-base homeostasis. Mutations in ATP6V1E1 cause distal renal tubular acidosis (dRTA) and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Distal renal tubular acidosis (dRTA) | Loss-of-function mutations impair V-ATPase activity in renal intercalated cells, leading to defective urinary acidification and metabolic acidosis. | ClinVar, OMIM |
| Cutaneous melanoma | Somatic mutations and altered expression of ATP6V1E1 contribute to tumor microenvironment acidification and metastasis. | COSMIC, NCBI |
| Breast cancer | Overexpression of ATP6V1E1 correlates with poor prognosis and promotes invasion via extracellular acidification. | NCBI, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | High |
| Brain | 10.8 | Medium |
| Liver | 8.5 | Medium |
| Heart | 7.3 | Medium |
| Lung | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| MCF7 | 7.5 | Breast cancer cells |
| A549 | 6.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151C>T (p.Arg51*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.346G>A (p.Gly116Arg) | Missense | <0.01% | Impaired V-ATPase assembly |
| c.487_489del (p.Phe163del) | Deletion | <0.01% | Disrupts subunit interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing dRTA.
Gain of Function (GOF)
Not reported for ATP6V1E1.
Dominant Negative (DN)
Missense mutations may interfere with V1 domain assembly, reducing pump activity.
View complete mutation data：
Gene Ontology (GO)
| • vacuolar proton-transporting V-type ATPase (GO:0000221) | • ion transport (GO:0006811) |
| • ATP hydrolysis coupled proton transport (GO:0015991) | • lysosome (GO:0005764) |
| • plasma membrane (GO:0005886) |
Pathways
• V-ATPase mediated acidification (Reactome: R-HSA-983712)
• Oxidative phosphorylation (KEGG: hsa00190)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
The ATP6V1E1 protein (32 kDa) is a regulatory subunit of the V1 peripheral domain of V-ATPase. It is essential for assembly and activity of the proton pump. The protein is expressed in all tissues, with highest levels in kidney and brain. It localizes to lysosomes, endosomes, and the plasma membrane, where it mediates proton transport.
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