| Name | ATP synthase membrane subunit c locus 1 |
| 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 the same protein have been identified. [provided by RefSeq, Jul 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ATP5MC1 encodes one isoform of the membrane‐embedded c subunit of the mitochondrial F<sub>1</sub>F<sub>0</sub>‐ATP synthase complex. This protein plays an essential role in oxidative phosphorylation by forming part of the rotary motor that couples proton translocation across the mitochondrial inner membrane to the synthesis of ATP. Recent studies have revealed that the c subunit is not merely a passive structural element; rather, its isoforms are functionally nonredundant. In particular, differences in the cleavable mitochondrial targeting peptides among isoforms determine their specific roles in proper assembly, stability, and even higher‐order organization of the ATP synthase complex. Moreover, accumulating evidence suggests that the c subunit ring may contribute to the formation or regulation of the mitochondrial permeability transition pore, thereby linking ATP synthase function with mitochondrial integrity and cell fate decisions under stress conditions such as ischemia, neurodegeneration, and cancer.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n For example, analyses of ATP synthase subunit c isoforms revealed that silencing individual isoforms leads to defects in ATP synthesis and impaired respiratory chain function, highlighting the nonredundant roles dictated by their targeting sequences."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, proposals associating the c‐ring with the permeability transition pore support a direct link between the structural organization of ATP synthase and the regulation of cell death mechanisms"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ";."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Finally, reductions in expression of specific c subunit isoforms, as observed in models of cardiac and hepatic dysfunction, correlate with impaired mitochondrial bioenergetics and cell viability."}, {"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": "Jiuya He, Holly C Ford, Joe Carroll, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1702357114"}], "href": "https://doi.org/10.1073/pnas.1702357114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28289229"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28289229"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Giampaolo Morciano, Gaia Pedriali, Massimo Bonora, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2021.108983"}], "href": "https://doi.org/10.1016/j.celrep.2021.108983"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33852870"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33852870"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Chandrashekhar R Gandhi, J Richard Chaillet, Michael A Nalesnik, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Liver-specific deletion of augmenter of liver regeneration accelerates development of steatohepatitis and hepatocellular carcinoma in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gastroenterology (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/j.gastro.2014.10.008"}], "href": "https://doi.org/10.1053/j.gastro.2014.10.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25448926"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25448926"}]}]}]}
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| NCBI Gene ID | 516 |
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ATP5MC1 has 3,689 functional associations with biological entities spanning 5 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets.
Click the + buttons to view associations for ATP5MC1 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 ATP5MC1 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 ATP5MC1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with ATP5MC1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of ATP5MC1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing ATP5MC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with ATP5MC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with ATP5MC1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with ATP5MC1 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 ATP5MC1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing ATP5MC1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by ATP5MC1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of ATP5MC1 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 ATP5MC1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with ATP5MC1 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 ATP5MC1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| KEGG Pathways 2026 | pathways involving ATP5MC1 protein from the KEGG Pathways 2026 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of ATP5MC1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of ATP5MC1 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 ATP5MC1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving ATP5MC1 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving ATP5MC1 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATP5MC1 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 ATP5MC1 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 ATP5MC1 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 ATP5MC1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of ATP5MC1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of ATP5MC1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of ATP5MC1 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ATP5MC1 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 ATP5MC1 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 ATP5MC1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving ATP5MC1 protein from the WikiPathways Pathways 2024 dataset. | |
