ATP5PF: ATP Synthase Peripheral Stalk Subunit F6
Mitochondrial Complex V Component and Oxidative Phosphorylation Regulator
Gene Information Card
| Symbol | ATP5PF |
|---|---|
| Full Name | ATP synthase peripheral stalk subunit F6 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 522 ncbi.nlm.nih.gov/gene/522 |
| Ensembl ID | ENSG00000154719 |
| UniProt ID | P18859 |
| OMIM ID | 603319 |
| HGNC ID | 840 |
| Aliases | ATP5A, ATP5B, ATP5F1, F6, ATP synthase subunit F6 |
Description
ATP5PF encodes the F6 subunit of the peripheral stalk of mitochondrial ATP synthase (Complex V). This subunit is essential for coupling proton translocation to ATP synthesis during oxidative phosphorylation. The protein is located in the inner mitochondrial membrane and interacts with other subunits to form the stator stalk that stabilizes the catalytic F1 head. Mutations in ATP5PF are associated with mitochondrial complex V deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) | Loss-of-function mutations impair ATP synthase assembly and activity, reducing ATP production | ClinVar, OMIM #603319 |
| Leigh syndrome | Defective oxidative phosphorylation due to ATP synthase dysfunction leads to neurodegeneration | ClinVar, PubMed |
| Cardiomyopathy, hypertrophic | Mitochondrial energy failure in cardiac muscle due to ATP synthase deficiency | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 42.3 | High |
| Skeletal Muscle | 38.1 | High |
| Liver | 25.7 | Medium |
| Brain | 22.4 | Medium |
| Kidney | 20.9 | Medium |
| Pancreas | 15.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | High expression |
| HEK293 | 30.8 | High expression |
| K562 | 22.1 | Medium expression |
| HepG2 | 28.5 | Medium expression |
| SH-SY5Y | 18.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | Rare | Impaired ATP synthase assembly and reduced ATP production |
| c.346C>T (p.Arg116*) | Nonsense | Rare | Premature truncation, loss of function |
| c.158_159del (p.Glu53fs) | Frameshift | Rare | Loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent F6 subunit, disrupting ATP synthase assembly and oxidative phosphorylation.
Gain of Function (GOF)
No gain-of-function mutations reported for ATP5PF.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by incorporating defective F6 into the ATP synthase complex, impairing overall function.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial proton-transporting ATP synthase complex (GO:0000275) | • mitochondrial proton-transporting ATP synthase complex (GO:0005753) |
| • proton transmembrane transporter activity (GO:0015078) | • mitochondrial ATP synthesis coupled proton transport (GO:0042776) |
| • proton-transporting ATP synthase activity (GO:0046933) |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• Parkinson disease (KEGG: hsa05012)
• Alzheimer disease (KEGG: hsa05010)
• Huntington disease (KEGG: hsa05016)
Protein Summary
ATP5PF encodes the F6 subunit of the peripheral stalk of mitochondrial ATP synthase. This subunit is part of the stator that connects the F1 catalytic head to the membrane-bound Fo domain, ensuring efficient coupling of proton flow to ATP synthesis. The mature protein is 108 amino acids long and localizes to the inner mitochondrial membrane. Defects in ATP5PF cause mitochondrial complex V deficiency, leading to multisystem disorders including Leigh syndrome and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5PF Knockout HEK293 Cell Line | EDJ-KQ4112 | Human | 522 | Details Get a Quote |
| ATP5PF Knockout A-549 Cell Line | EDJ-KQ26506 | Human | 522 | Details Get a Quote |
| ATP5PF Knockout HCT 116 Cell Line | EDJ-KQ26507 | Human | 522 | Details Get a Quote |
| ATP5PF Knockout HeLa Cell Line | EDJ-KQ26508 | Human | 522 | Details Get a Quote |
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