ATP6V0E1: V-ATPase Subunit e1 – Proton Pump Component in Cellular Acidification
Essential subunit of vacuolar ATPase, critical for lysosomal acidification, endocytosis, and protein degradation; implicated in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | ATP6V0E1 |
|---|---|
| Full Name | ATPase H+ Transporting V0 Subunit e1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 8992 ncbi.nlm.nih.gov/gene/8992 |
| Ensembl ID | ENSG00000113732 |
| UniProt ID | O15342 |
| OMIM ID | 603931 |
| HGNC ID | 865 |
| Aliases | ATP6H, Vma21, V-ATPase 21 kDa subunit, V-ATPase subunit e |
Description
ATP6V0E1 encodes subunit e1 of the vacuolar (V-type) ATPase, a multi-subunit enzyme that acidifies intracellular organelles such as lysosomes, endosomes, and secretory vesicles. This subunit is part of the V0 membrane-bound proton channel and is essential for proton translocation. Proper acidification is required for receptor-mediated endocytosis, protein degradation, neurotransmitter uptake, and bone resorption. Dysregulation of V-ATPase activity is linked to cancer metastasis, lysosomal storage disorders, and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered V-ATPase expression promotes tumor invasion and drug resistance via extracellular acidification | COSMIC, PubMed |
| Neurodegenerative disorders | Impaired lysosomal acidification leads to protein aggregation and autophagic dysfunction | ClinVar, PubMed |
| Renal tubular acidosis | Defective proton pumping in kidney cells disrupts acid-base balance | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Heart | 6.7 | Low |
| Lung | 9.1 | Low |
| Pancreas | 10.4 | Medium |
| Spleen | 7.8 | Low |
| Testis | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer line |
| HEK293 | 11.2 | Embryonic kidney line |
| A549 | 9.8 | Lung cancer line |
| MCF7 | 12.1 | Breast cancer line |
| K562 | 8.5 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon, likely loss of function |
| c.154C>T (p.Arg52Trp) | Missense | 0.02% | May affect subunit assembly |
| c.207_209del (p.Phe69del) | Deletion | <0.01% | In-frame deletion, unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting start codon or critical residues likely impair V0 assembly and proton transport, leading to defective organelle acidification.
Gain of Function (GOF)
Not reported; no activating mutations documented in ATP6V0E1.
Dominant Negative (DN)
Possible if mutant subunit incorporates into V0 complex and disrupts function of wild-type subunits, but no confirmed examples.
View complete mutation data：
Gene Ontology (GO)
| • vacuolar proton-transporting V-type ATPase (GO:0000221) | • ATP hydrolysis coupled proton transport (GO:0015991) |
| • vacuolar transport (GO:0007034) | • lysosome (GO:0005764) |
| • endosome (GO:0005768) | • integral component of membrane (GO:0016021) |
Pathways
• REACT:163685 – V-ATPase mediated acidification
• KEGG:00190 – Oxidative phosphorylation (indirect)
• KEGG:04142 – Lysosome
• KEGG:04721 – Synaptic vesicle cycle
Protein Summary
ATP6V0E1 encodes a 21 kDa integral membrane protein (subunit e1) of the V0 domain of vacuolar ATPase. This subunit is required for assembly of the proton channel and for coupling ATP hydrolysis to proton translocation. The protein is ubiquitously expressed with highest levels in testis and brain. It localizes to lysosomes, endosomes, and the plasma membrane in specialized cells. Post-translational modifications include N-glycosylation and phosphorylation, which regulate stability and complex assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V0E1 Knockout HEK293 Cell Line | EDJ-KQ6423 | Human | 8992 | Details Get a Quote |
| ATP6V0E1 Knockout A-549 Cell Line | EDJ-KQ30477 | Human | 8992 | Details Get a Quote |
| ATP6V0E1 Knockout HCT 116 Cell Line | EDJ-KQ30478 | Human | 8992 | Details Get a Quote |
| ATP6V0E1 Knockout HeLa Cell Line | EDJ-KQ30479 | Human | 8992 | Details Get a Quote |
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