| Name | AFG1 like ATPase |
| Description | This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n AFG1L, the human homolog of the yeast mitochondrial Afg1 ATPase, plays a key role in maintaining mitochondrial protein homeostasis and function. It is an integral membrane AAA ATPase that assembles into multiple mitochondrial complexes and is essential for preserving both the fused mitochondrial reticulum and the characteristic lamellar cristae structure. By mediating the degradation of specific nuclear‐encoded subunits of the electron transport chain (such as COX4, COX5A, and COX6A) and interacting with inner‐membrane proteases (e.g., YME1L), AFG1L is critical in ensuring proper activity of respiratory complexes III and IV (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its role in proteostasis, AFG1L has been shown to influence apoptotic signaling. It promotes the translocation of p53 from the nucleus to the mitochondria under conditions of cellular stress. This mitochondrial partitioning of p53 facilitates a transcription-independent apoptotic response, emphasizing a dual role for AFG1L in both mitochondrial quality control and stress-induced cell death regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Intriguingly, genetic studies have also implicated AFG1L (sometimes referred to as LACE1) in clinical conditions such as bipolar disorder, suggesting that its mitochondrial functions may have broader implications for human health."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " An intact ATPase domain is necessary for its function, underscoring how its enzymatic activity is central to the regulation of mitochondrial integrity, energy metabolism, and apoptosis during cellular aging and stress.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jana Cesnekova, Marie Rodinova, Hana Hansikova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20151029"}], "href": "https://doi.org/10.1042/BJ20151029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26759378"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26759378"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Edward M Germany, Nataliya Zahayko, Mason L Huebsch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The AAA ATPase Afg1 preserves mitochondrial fidelity and cellular health by maintaining mitochondrial matrix proteostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.219956"}], "href": "https://doi.org/10.1242/jcs.219956"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30301782"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30301782"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jana Cesnekova, Jana Spacilova, Hana Hansikova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.9959"}], "href": "https://doi.org/10.18632/oncotarget.9959"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27323408"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27323408"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jo Knight, Nanette S Rochberg, Scott F Saccone, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An investigation of candidate regions for association with bipolar disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.31100"}], "href": "https://doi.org/10.1002/ajmg.b.31100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20872768"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20872768"}]}]}]}
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| NCBI Gene ID | 246269 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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AFG1L has 1,077 functional associations with biological entities spanning 5 categories (functional term, phrase or reference, chemical, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 30 datasets.
Click the + buttons to view associations for AFG1L 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 AFG1L gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with AFG1L protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with AFG1L gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of AFG1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of AFG1L gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing AFG1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing AFG1L 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 AFG1L 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 AFG1L protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by AFG1L gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with AFG1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving AFG1L gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving AFG1L gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing AFG1L protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing AFG1L protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with AFG1L gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by AFG1L gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of AFG1L 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 AFG1L gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by AFG1L gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of AFG1L gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of AFG1L 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 AFG1L gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of AFG1L gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of AFG1L gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of AFG1L gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of AFG1L gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of AFG1L gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of AFG1L protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with AFG1L protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
