ATP5F1E Gene - ATP Synthase F1 Subunit Epsilon
Mitochondrial ATP synthase complex subunit essential for oxidative phosphorylation
Gene Information Card
| Symbol | ATP5F1E |
|---|---|
| Full Name | ATP synthase F1 subunit epsilon |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.32 |
| NCBI Gene ID | 514 ncbi.nlm.nih.gov/gene/514 |
| Ensembl ID | ENSG00000124198 |
| UniProt ID | P56381 |
| OMIM ID | 606153 |
| HGNC ID | 840 |
| Aliases | ATP5E, ATP synthase epsilon chain, mitochondrial |
Description
ATP5F1E encodes the epsilon subunit of mitochondrial ATP synthase (Complex V), which catalyzes ATP synthesis from ADP and inorganic phosphate using the proton gradient across the inner mitochondrial membrane. The epsilon subunit is essential for coupling proton flow to ATP production and for the structural stability of the F1 catalytic domain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 3 | Biallelic loss-of-function mutations in ATP5F1E impair ATP synthase assembly and activity, leading to reduced ATP production and mitochondrial dysfunction. | OMIM #614053; PMID: 24856141 |
| Leigh syndrome | Pathogenic variants in ATP5F1E can cause Leigh-like phenotypes with neurodegeneration, lactic acidosis, and respiratory chain defects. | PMID: 24856141 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.3 | High |
| Liver | 18.7 | Medium |
| Brain | 15.2 | Medium |
| Kidney | 14.1 | Medium |
| Lung | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| HEK293 | 29.4 | Embryonic kidney cells |
| K562 | 18.6 | Leukemia cell line |
| HepG2 | 21.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.35C>T (p.Pro12Leu) | Missense | Rare | Reduced ATP synthase activity; associated with mitochondrial complex V deficiency |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Impaired assembly of F1 domain; reported in Leigh syndrome |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; severe mitochondrial dysfunction |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish ATP synthase activity, leading to mitochondrial complex V deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial proton-transporting ATP synthase complex (GO:0000275) |
| • ATP hydrolysis activity (GO:0016887) | • mitochondrial ATP synthesis coupled proton transport (GO:0042776) |
| • proton-transporting ATP synthase activity (GO:0046933) |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
ATP5F1E encodes the epsilon subunit of mitochondrial ATP synthase (Complex V). This small nuclear-encoded protein (51 amino acids) is part of the F1 catalytic head and is required for proper assembly and rotational catalysis. Mutations cause mitochondrial complex V deficiency, leading to early-onset neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5F1E Knockout HEK293 Cell Line | EDJ-KQ50140 | Human | 514 | Details Get a Quote |
| ATP5F1E Knockout HeLa Cell Line | EDJ-KQ52689 | Human | 514 | Details Get a Quote |
| ATP5F1E Knockout A-549 Cell Line | EDJ-KQ61160 | Human | 514 | Details Get a Quote |
| ATP5F1E Knockout HCT 116 Cell Line | EDJ-KQ69648 | Human | 514 | Details Get a Quote |
