ATP5F1A: ATP Synthase F1 Subunit Alpha
Mitochondrial Complex V Core Catalytic Subunit
Gene Information Card
| Symbol | ATP5F1A |
|---|---|
| Full Name | ATP synthase F1 subunit alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 498 ncbi.nlm.nih.gov/gene/498 |
| Ensembl ID | ENSG00000134333 |
| UniProt ID | P25705 |
| OMIM ID | 164360 |
| HGNC ID | 823 |
| Aliases | ATP5A1, ATP5A, ATPM, MOM2, OXA, hATP1 |
Description
ATP5F1A encodes the alpha 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 alpha subunit is part of the F1 catalytic core and binds ATP/ADP. Mutations in ATP5F1A are associated with mitochondrial complex V deficiency and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 4 | Loss-of-function mutations impair ATP synthesis, leading to energy depletion | OMIM #615228; ClinVar pathogenic variants |
| Leigh syndrome | Defective oxidative phosphorylation due to ATP5F1A mutations causes neurodegeneration | Case reports in NCBI PubMed; ClinVar |
| Cardioencephalomyopathy | Reduced ATP production affects heart and brain high-energy tissues | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 78.5 | High |
| Skeletal muscle | 62.3 | High |
| Liver | 45.1 | Medium |
| Brain | 38.7 | Medium |
| Kidney | 42.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 85.2 | High expression |
| HEK293 | 79.6 | High expression |
| K562 | 55.3 | Medium expression |
| HepG2 | 60.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1060C>T (p.Arg354Trp) | Missense | Rare | Loss of ATP synthase activity |
| c.985C>T (p.Arg329Cys) | Missense | Rare | Impaired assembly of Complex V |
| c.149G>A (p.Arg50Gln) | Missense | Rare | Reduced catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations impair ATP hydrolysis/synthesis activity or complex assembly.
Gain of Function (GOF)
Not reported for ATP5F1A.
Dominant Negative (DN)
Not documented; most mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524 - ATP binding | • GO:0016887 - ATP hydrolysis activity |
| • GO:0046933 - proton-transporting ATP synthase activity | • rotational mechanism |
| • GO:0005753 - mitochondrial proton-transporting ATP synthase complex | • GO:0042776 - mitochondrial ATP synthesis coupled proton transport |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• Parkinson disease (KEGG: hsa05012)
• Alzheimer disease (KEGG: hsa05010)
• Huntington disease (KEGG: hsa05016)
Protein Summary
ATP5F1A encodes the alpha subunit of mitochondrial ATP synthase (Complex V). This 553-amino acid protein (UniProt P25705) forms part of the F1 catalytic head, where it binds ATP and ADP and participates in the rotational catalysis of ATP synthesis. It is essential for cellular energy production. Defects cause mitochondrial complex V deficiency, Leigh syndrome, and other energy metabolism disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5F1A Knockout HEK293 Cell Line | EDJ-KQ3706 | Human | 498 | Details Get a Quote |
| ATP5F1A Knockout HCT 116 Cell Line | EDJ-KQ24358 | Human | 498 | Details Get a Quote |
| ATP5F1A Knockout A-549 Cell Line | EDJ-KQ25728 | Human | 498 | Details Get a Quote |
| ATP5F1A Knockout HeLa Cell Line | EDJ-KQ25730 | Human | 498 | Details Get a Quote |
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