| Name | ATP synthase membrane subunit c locus 3 |
| Description | This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ATP5MC3 is a nuclear‐encoded gene that produces one isoform of the c‐subunit of the mitochondrial F<sub>1</sub>F<sub>0</sub>‐ATP synthase. This subunit is critical for the proper assembly and function of the ATP synthase complex, directly influencing ATP production through oxidative phosphorylation and overall mitochondrial energy homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Functional studies have demonstrated that genetic alterations in ATP5MC3—such as de novo missense variants—lead to impaired complex V activity, defective assembly of the ATP synthase, and diminished ATP synthesis. These mitochondrial perturbations are associated with diverse neurodevelopmental and neurodegenerative phenotypes, including movement disorders like spastic paraplegia and dystonia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to mutation‐driven defects, modulation of ATP5MC3 expression plays a direct role in cellular metabolic adaptation. For example, chronic ethanol exposure has been shown to markedly downregulate ATP5MC3 transcript levels in neuronal cells, a change that corresponds with reduced cellular ATP levels and increased vulnerability to metabolic stress such as oxygen–glucose deprivation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, experimental inhibition of ATP5MC3 expression via photothermal/photodynamic treatment causes mitochondrial damage and triggers pyroptotic cell death through the induction of mitochondrial reactive oxygen species and subsequent mitochondrial DNA oxidation. This pathway not only underscores the importance of ATP5MC3 for maintaining mitochondrial function but also provides a potential mechanism for antitumor therapy by engaging programmed cell death pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Cristofol Vives-Bauza, Jordi Magrané, Antoni L Andreu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e09-06-0483"}], "href": "https://doi.org/10.1091/mbc.e09-06-0483"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19889836"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19889836"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Michael Zech, Robert Kopajtich, Katja Steinbrücker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.26293"}], "href": "https://doi.org/10.1002/ana.26293"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34954817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34954817"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ana Spataru, Diana Le Duc, Leon Zagrean, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ethanol exposed maturing rat cerebellar granule cells show impaired energy metabolism and increased cell death after oxygen-glucose deprivation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neural Regen Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4103/1673-5374.245474"}], "href": "https://doi.org/10.4103/1673-5374.245474"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30539817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30539817"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Xiulin Jiang, Yixiao Yuan, Lin Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systematic Analysis and Validation of the Prognosis, Immunological Role and Biology Function of the Ferroptosis-Related lncRNA GSEC/miRNA-101-3p/CISD1 Axis in Lung Adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Mol Biosci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fmolb.2021.793732"}], "href": "https://doi.org/10.3389/fmolb.2021.793732"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35320929"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35320929"}]}]}]}
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| NCBI Gene ID | 518 |
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ATP5MC3 has 3,641 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 32 datasets.
Click the + buttons to view associations for ATP5MC3 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 ATP5MC3 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 ATP5MC3 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with ATP5MC3 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of ATP5MC3 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing ATP5MC3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with ATP5MC3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving ATP5MC3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with ATP5MC3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving ATP5MC3 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing ATP5MC3 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of ATP5MC3 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of ATP5MC3 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 ATP5MC3 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by ATP5MC3 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of ATP5MC3 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 ATP5MC3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving ATP5MC3 protein from the KEGG Pathways 2026 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of ATP5MC3 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of ATP5MC3 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 ATP5MC3 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Reactome Pathways 2024 | pathways involving ATP5MC3 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATP5MC3 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 ATP5MC3 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 ATP5MC3 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 ATP5MC3 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of ATP5MC3 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of ATP5MC3 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of ATP5MC3 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ATP5MC3 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 ATP5MC3 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 ATP5MC3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving ATP5MC3 protein from the WikiPathways Pathways 2024 dataset. | |
