| Name | mitochondrial contact site and cristae organizing system subunit 13 |
| Description | Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMICOS13, also known as QIL1, is a conserved core subunit of the mitochondrial contact site and cristae organizing system (MICOS) that is essential for maintaining the structural integrity of the mitochondrial inner membrane. By facilitating the formation of crista junctions, MICOS13 promotes the proper assembly of the MICOS complex, notably by integrating critical subunits such as MIC10, MIC26, and MIC27, while a MIC60/MIC19/MIC25 subcomplex persists independently yet remains insufficient for junction formation. Loss or depletion of MICOS13 leads to MICOS disassembly, aberrant cristae morphology, impaired respiratory function, and increased mitochondrial fragmentation in both cultured cells and animal models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurthermore, mutations or targeted deletion of MICOS13 have been directly linked to severe mitochondrial pathologies, including early‐onset fatal mitochondrial encephalopathy, liver disease, and neurodegenerative disorders, where MICOS disassembly underlies disrupted cristae organization and respiratory chain dysfunction. Detailed structure–function studies have mapped critical domains within MICOS13—including a conserved N‐terminal GxxxG motif required for membrane insertion and an internal WN motif essential for maintaining protein stability and bridging the MICOS subcomplexes—thus underscoring its central role in both the maintenance of mitochondrial ultrastructure and the pathogenesis of mitochondrial disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Virginia Guarani, Elizabeth M McNeill, Joao A Paulo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.06265"}], "href": "https://doi.org/10.7554/eLife.06265"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25997101"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25997101"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ruchika Anand, Valentina Strecker, Jennifer Urbach, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0160258"}], "href": "https://doi.org/10.1371/journal.pone.0160258"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27479602"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27479602"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Avraham Zeharia, Jonathan R Friedman, Ana Tobar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2016.83"}], "href": "https://doi.org/10.1038/ejhg.2016.83"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27485409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27485409"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Virginia Guarani, Claude Jardel, Dominique Chrétien, et al. "}, {"type": "b", "children": [{"type": "t", "text": "QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.17163"}], "href": "https://doi.org/10.7554/eLife.17163"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27623147"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27623147"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jennifer Urbach, Arun Kumar Kondadi, Céline David, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Biomembr (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbamem.2021.183683"}], "href": "https://doi.org/10.1016/j.bbamem.2021.183683"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34271005"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34271005"}]}]}]}
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| NCBI Gene ID | 125988 |
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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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MICOS13 has 1,997 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 32 datasets.
Click the + buttons to view associations for MICOS13 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 MICOS13 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 MICOS13 protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with MICOS13 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of MICOS13 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 MICOS13 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing MICOS13 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing MICOS13 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 MICOS13 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 MICOS13 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 MICOS13 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 MICOS13 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 MICOS13 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving MICOS13 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing MICOS13 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing MICOS13 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of MICOS13 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of MICOS13 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 MICOS13 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of MICOS13 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 MICOS13 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving MICOS13 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving MICOS13 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of MICOS13 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 MICOS13 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 MICOS13 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 MICOS13 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of MICOS13 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of MICOS13 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of MICOS13 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of MICOS13 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 MICOS13 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 MICOS13 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
