| Name | ATP synthase F1 subunit alpha |
| Description | This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ATP5F1A, which encodes the α‐subunit of mitochondrial ATP synthase (Complex V), is essential for catalyzing ATP production during oxidative phosphorylation. Its proper expression and structural integrity are critical for efficient energy generation and mitochondrial function. Recessive mutations in ATP5F1A have been demonstrated to cause combined respiratory chain deficiencies by disrupting the assembly and stability of the ATP synthase complex."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Disruption of ATP5F1A is also observed in disease models where proteolytic cleavage—mediated by calpain activation—leads to a reduction in ATP5F1A protein levels and diminished ATP synthase activity. This reduction is associated with mitochondrial dysfunction, increased reactive oxygen species (ROS) production, and eventual cellular injury contributing to cardiomyopathy and heart failure."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, ATP5F1A expression is subject to transcriptional and posttranscriptional regulation in various tissues; for instance, its altered expression is linked to metabolic reprogramming in liver cells and appears to be part of broader transcriptional programs governed by coactivators such as PGC‐1α that affect neuronal energy metabolism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Furthermore, in glioblastoma, deregulation of miRNAs targeting ATP5F1A and its partner ATP5B may result in abnormally high protein levels in both tumor cells and associated microvasculature, suggesting that ATP synthase subunits might be exploited as therapeutic targets in cancer."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeted exome sequencing of suspected mitochondrial disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182918c40"}], "href": "https://doi.org/10.1212/WNL.0b013e3182918c40"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23596069"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23596069"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "An I Jonckheere, G Herma Renkema, Maaike Bras, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awt086"}], "href": "https://doi.org/10.1093/brain/awt086"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23599390"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23599390"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Rui Ni, Dong Zheng, Sidong Xiong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial Calpain-1 Disrupts ATP Synthase and Induces Superoxide Generation in Type 1 Diabetic Hearts: A Novel Mechanism Contributing to Diabetic Cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db15-0963"}], "href": "https://doi.org/10.2337/db15-0963"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26470784"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26470784"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ting Cao, Shuai Fan, Dong Zheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased calpain-1 in mitochondria induces dilated heart failure in mice: role of mitochondrial superoxide anion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Basic Res Cardiol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00395-019-0726-1"}], "href": "https://doi.org/10.1007/s00395-019-0726-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30874894"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30874894"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Elizabeth K Lucas, Sarah E Dougherty, Laura J McMeekin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PGC-1α provides a transcriptional framework for synchronous neurotransmitter release from parvalbumin-positive interneurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.1222-14.2014"}], "href": "https://doi.org/10.1523/JNEUROSCI.1222-14.2014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25339750"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25339750"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Philippe Chafey, Laetitia Finzi, Raphael Boisgard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proteomic analysis of beta-catenin activation in mouse liver by DIGE analysis identifies glucose metabolism as a new target of the Wnt pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proteomics (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pmic.200800609"}], "href": "https://doi.org/10.1002/pmic.200800609"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19639598"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19639598"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "René G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2017.08.015"}], "href": "https://doi.org/10.1016/j.ajhg.2017.08.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28942965"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28942965"}]}]}]}
|
| NCBI Gene ID | 498 |
| API | |
| Download Associations | |
| Predicted Functions |
 |
| Co-expressed Genes |
|
| Expression in Tissues and Cell Lines |
|
ATP5F1A has 3,745 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 49 datasets.
Click the + buttons to view associations for ATP5F1A from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of ATP5F1A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of ATP5F1A gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with ATP5F1A protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with ATP5F1A gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of ATP5F1A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with ATP5F1A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of ATP5F1A gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing ATP5F1A protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing ATP5F1A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing ATP5F1A protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with ATP5F1A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of ATP5F1A protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with ATP5F1A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with ATP5F1A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with ATP5F1A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving ATP5F1A gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving ATP5F1A gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing ATP5F1A protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing ATP5F1A protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by ATP5F1A gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by ATP5F1A gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of ATP5F1A gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of ATP5F1A gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of ATP5F1A gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with ATP5F1A gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of ATP5F1A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of ATP5F1A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving ATP5F1A protein from the KEGG Pathways 2026 dataset. | |
| Kinase Library Tyrosine Kinome Atlas | kinases that phosphorylate ATP5F1A protein from the Kinase Library Tyrosine Kinome Atlas dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of ATP5F1A gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of ATP5F1A gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by ATP5F1A gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of ATP5F1A gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of ATP5F1A gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving ATP5F1A protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving ATP5F1A protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving ATP5F1A protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATP5F1A gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATP5F1A gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATP5F1A gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of ATP5F1A gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of ATP5F1A gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of ATP5F1A gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of ATP5F1A gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of ATP5F1A gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ATP5F1A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ATP5F1A protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with ATP5F1A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving ATP5F1A protein from the WikiPathways Pathways 2024 dataset. | |
