{ "uniprot_canonical_ac": "P08574-1", "uniprot_ac": "P08574", "uniprot_id": "CY1_HUMAN", "mass": { "chemical_mass": 35422.0, "monoisotopic_mass": 35422.0 }, "refseq": { "ac": "NP_001907", "name": "cytochrome c1, heme protein, mitochondrial precursor", "summary": "This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907" }, "gene_names": [ { "name": "CYC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08574", "id": "P08574" }, { "name": "CYC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907", "id": "NP_001907" }, { "name": "MC3DN6; UQCR4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907", "id": "NP_001907" } ], "protein_names": [ { "name": "Cytochrome c1, heme protein, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08574" }, { "name": "7.1.1.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08574" }, { "name": "Complex III subunit 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08574" }, { "name": "Complex III subunit IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08574" }, { "name": "Cytochrome b-c1 complex subunit 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08574" }, { "name": "Cytochrome c-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08574" }, { "name": "Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08574" }, { "name": "cytochrome c1, heme protein, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907", "id": "NP_001907" }, { "name": "cytochrome c1, heme protein, mitochondrial; complex III subunit 4; complex III subunit IV; cytochrome b-c1 complex subunit 4; ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit; cytochrome c-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907", "id": "NP_001907" } ], "function": [ { "annotation": "CYC1 inhibits cell proliferation, glycolytic activity and increases chemosensitivity to paclitaxel in ER-positive breast carcinoma cells", "evidence": [ { "database": "RefSeq", "id": "NP_001907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907" }, { "database": "PubMed", "id": "31149728", "url": "https://glygen.org/publication/PubMed/31149728" } ] }, { "annotation": "Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. Cytochrome c1 is a catalytic core subunit containing a c-type heme. It transfers electrons from the [2Fe-2S] iron-sulfur cluster of the Rieske protein to cytochrome c.", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574#function" }, { "database": "UniProtKB", "id": "P07143", "url": "https://www.uniprot.org/uniprot/P07143#function" } ] }, { "annotation": "Physical contact between cytochrome c1 and cytochrome c increases the driving force for electron transfer.", "evidence": [ { "database": "RefSeq", "id": "NP_001907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907" }, { "database": "PubMed", "id": "32717223", "url": "https://glygen.org/publication/PubMed/32717223" } ] }, { "annotation": "This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907" } ] } ], "disease": [ { "disease_id": "DOID:0080115", "recommended_name": { "id": "DOID:0080115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080115", "name": "mitochondrial complex III deficiency nuclear type 6", "description": "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24." }, "synonyms": [ { "id": "MONDO:0014194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014194", "name": "mitochondrial complex III deficiency nuclear type 6", "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." }, { "id": "MONDO:0014194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014194", "name": "CYC1 mitochondrial complex III deficiency", "description": "" }, { "id": "MONDO:0014194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014194", "name": "mitochondrial complex III deficiency caused by mutation in CYC1", "description": "" }, { "id": "MONDO:0014194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014194", "name": "MC3DN6", "description": "" }, { "id": "MONDO:0014194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014194", "name": "mitochondrial Complex 3 deficiency, nuclear type 6", "description": "" }, { "id": "MONDO:0014194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014194", "name": "mitochondrial complex III deficiency, nuclear type 6", "description": "" }, { "id": "MIM:615453", "resource": "MIM", "url": "https://www.omim.org/entry/615453", "name": "Mitochondrial complex III deficiency, nuclear type 6", "description": "Mitochondrial complex III deficiency, nuclear type 6" } ], "evidence": [ { "id": "615453", "database": "MIM", "url": "https://www.omim.org/entry/615453" } ] } ], "snv": [ { "evidence": [ { "id": "P08574", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08574" } ], "glycoeffect": [], "start_pos": 285, "end_pos": 285, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "144097115", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R285", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000179091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179091" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000179091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179091" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08574", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08574" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08574" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P08574", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08574" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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mitochondrial OS=Homo sapiens OX=9606 GN=CYC1 PE=1 SV=3 CANONICAL=P08574-1" }, "locus": { "chromosome": "8", "start_pos": 144097333, "end_pos": 144095100, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000318911.5", "url": "https://www.ensembl.org/id/ENST00000318911.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000317159.4", "url": "https://www.ensembl.org/id/ENSP00000317159.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P08574", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08574" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 182, "end_pos": 182, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P08574", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08574" } ], "site_lbl": "Ser182" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Defects in mitochondrial beta-oxidation of fatty acids.", "journal": "Current opinion in lipidology", "date": "1999", "authors": "Wood PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "10327278", "url": "https://glygen.org/publication/PubMed/10327278" } ] }, { "title": "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.", "journal": "Hum. Genet.", "date": "1999", "authors": "Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J, Rustin P, Rotig A", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "reference": [ { "type": "PubMed", "id": "10453733", "url": "https://glygen.org/publication/PubMed/10453733" } ] }, { "title": "Human NADH:ubiquinone oxidoreductase.", "journal": "Journal of bioenergetics and biomembranes", "date": "2001", "authors": "Smeitink J, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "11695836", "url": "https://glygen.org/publication/PubMed/11695836" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", 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Bioenergetics", "date": "2020", "authors": "Perez-Mejias G, Olloqui-Sariego JL, Guerra-Castellano A, Diaz-Quintana A, Calvente JJ, Andreu R, De la Rosa MA, Diaz-Moreno I", "evidence": [ { "database": "RefSeq", "id": "NP_001907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001907" } ], "reference": [ { "type": "PubMed", "id": "32717223", "url": "https://glygen.org/publication/PubMed/32717223" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08574", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08574" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08574", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08574" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Studies on the mechanims of oxidative phosphorylation. IX. Effect of cytochrome c on energy-linked processes.", "journal": "The Journal of biological chemistry", "date": "1966", "authors": "MacLennan DH, Lenaz G, Szarkowska L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "4288886", "url": "https://glygen.org/publication/PubMed/4288886" } ] }, { "title": "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "9878551", "url": "https://glygen.org/publication/PubMed/9878551" } ] } ], "pathway": [ { "id": "hsa:1537", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1537", "resource": "KEGG Pathway" }, { "id": "R-HSA-1268020", "name": "Mitochondrial protein import", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020", "resource": "Reactome", "description": "Mitochondrial protein import" }, { "id": "R-HSA-611105", "name": "Respiratory electron transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105", "resource": "Reactome", "description": "Respiratory electron transport" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZFQ8-1", "protein_name": "Cytochrome c1, heme protein, mitochondrial", "gene_name": "Cyc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAAAAASLRRSVLGPRGMGLPGASAPGLLGGARPRHLPLRTPQAVSLSSKSGPSRGRKVMLSALGMLAAGGAGLAVALHSAVSASDLELHPPSYPWSHRGLLSSLDHTSIRRGFQVYKQVCSSCHSMDYVAYRHLVGVCYTEEEAKALAEEVEVQDGPNEDGNMFMRPGKLSDYFPKPYPNPEAARAANNGALPPDLSYIVRARHGGEDYVFSLLTGYCEPPTGVSLREGLYFNPYFPGQAIGMAPPIYTEVLEYDDGTPATMSQVAKDVATFLRWASEPEHDHRKRMGLKVKGWMLLMMGLLLPLTYAMKRHKWSVLKSRKLAYRPPK", "length": 330 }, "evidence": [ { "id": "P08574", "url": "https://omabrowser.org/oma/group/P08574/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P07143-1", "protein_name": "Cytochrome c1, heme protein, mitochondrial", "gene_name": "CYT1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MFSNLSKRWAQRTLSKSFYSTATGAASKSGKLTQKLVTAGVAAAGITASTLLYADSLTAEAMTAAEHGLHAPAYAWSHNGPFETFDHASIRRGYQVYREVCAACHSLDRVAWRTLVGVSHTNEEVRNMAEEFEYDDEPDEQGNPKKRPGKLSDYIPGPYPNEQAARAANQGALPPDLSLIVKARHGGCDYIFSLLTGYPDEPPAGVALPPGSNYNPYFPGGSIAMARVLFDDMVEYEDGTPATTSQMAKDVTTFLNWCAEPEHDERKRLGLKTVIILSSLYLLSIWVKKFKWAGIKTRKFVFNPPKPRK", "length": 309 }, "evidence": [ { "id": "P08574", "url": "https://omabrowser.org/oma/group/P08574/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9D0M3-1", "protein_name": "Cytochrome c1, heme protein, mitochondrial", "gene_name": "Cyc1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAAAASLRRTVLGPRGVGLPGASAPGLLGGARSRQLPLRTPQAVSLSSKSGPSRGRKVMLSALGMLAAGGAGLAVALHSAVSASDLELHPPSYPWSHRGLLSSLDHTSIRRGFQVYKQVCSSCHSMDYVAYRHLVGVCYTEEEAKALAEEVEVQDGPNDDGEMFMRPGKLSDYFPKPYPNPEAARAANNGALPPDLSYIVRARHGGEDYVFSLLTGYCEPPTGVSLREGLYFNPYFPGQAIGMAPPIYTEVLEYDDGTPATMSQVAKDVATFLRWASEPEHDHRKRMGLKMLLMMGLLLPLTYAMKRHKWSVLKSRKLAYRPPK", "length": 325 }, "evidence": [ { "id": "45919936", "url": "http://www.informatics.jax.org/homology/45919936", "database": "MGI" }, { "id": "P08574", "url": "https://omabrowser.org/oma/group/P08574/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VRL0-1", "protein_name": "Cytochrome c1, heme protein, mitochondrial", "gene_name": "Cyt-c1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAATLRRFHGLRLLKSAPALSLQQAKNLSSAGSWASGNKKLIGALGAITGGVGALIYALEQSVQASGGEVHSPAQLWNHKGLFDALDHQSVRRGYEVYKQVCSACHSMQYIAYRNLVGVTHTEAEAKAEAEQITVKDGPDDTGNYYTRPGKLSDYFPSPYPNEEAARAANNGAYPPDLSYIVSARKGGEDYIFSLLTGYHDAPAGVVLREGQYFNPYFPGGAISMAQVLYNEVIEYEDGTPPTQSQLAKDVATFLKWTSEPEHDDRKQLLIKVIGILGFLTVISYYIKRHKWSSLKSRKIVFVPKEK", "length": 307 }, "evidence": [ { "id": "P08574", "url": "https://omabrowser.org/oma/group/P08574/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex III", "id": "GO:0005750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005750", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "ubiquinol-cytochrome-c reductase activity", "id": "GO:0008121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008121", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "response to glucagon", "id": "GO:0033762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033762", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "mitochondrial electron transport, ubiquinol to cytochrome c", "id": "GO:0006122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006122", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" }, { "name": "cellular respiration", "id": "GO:0045333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045333", "evidence": [ { "database": "UniProtKB", "id": "P08574", "url": "https://www.uniprot.org/uniprot/P08574" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "11484", "name": "", "equation": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P20788-1", "D3ZFQ8-1", "P47985-1", "P08574-1", "Q9CR68-1", "Q9D0M3-1", "P00163-1", "P07143-1", "P08067-1", "Q54NW9-1", "Q54D07-1", "Q9VQ29-1", "Q9VRL0-1", "Q9VAM8-1" ], "evidence": [ { "id": "11484", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11484" } ] }, { "id": "R-HSA-1268022", "name": "TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space", "equation": "", "summary": "As inferred from the yeast TOM40:TOM70 complex, the human TOMM40:TOMM70 complex transports precursor proteins from the cytosol, across the outer membrane of the mitochondrion, and into the intermembrane space from where they may be targeted to all locations within the mitochondrion. As inferred from yeast, TOMM40, TOMM22, TOMM5, TOMM6, and TOMM7 probably form the general import pore across the membrane. On the cytosolic side TOMM20 and TOMM22 interact with presequences on mitochondrial precursors while TOMM70 interacts with hydrophobic sequences in mature internal regions of mitochondrial proteins.
In yeast, experimentally verified substrates of the TOM40:TOM70 complex include ATP1 (ATP5A1 in human), ATP2 (ATP5B in human), ATP9 (ATP5G1 in human), TOM40 (TOMM40 in human), SSC1 (mtHsp70, HSPA9 in human), CIT1 (CS in human), ACO1 (ACO2 in human), IDH1 (IDH3G in human), BCS1 (BCS1L in human), CYT1 (CYC1 in human), TIM54 (TIMM54 in human), TIM22 (TIMM22 in human), AAC (ADP/ATP translocase 1, ANT, SLC25A4 in human), HSP60, and CYB2. In humans, TOMM40 has been shown to be a substrate (Humphries et al. 2005). In yeast some proteins such as ACO1, ATP1, CIT1, IDH1, and ATP2 contain both presequences that interact with TOM20 and mature regions that interact with TOM70 (Yamamoto et al. 2009). Most proteins imported into mitochondria are anticipated to be transported through the TOMM40:TOMM70 complex.", "cellular_location": "cytosol, mitochondrial intermembrane space, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q99798-1", "P06576-1", "P08574-1", "P10809-1" ], "evidence": [ { "id": "R-HSA-1268022", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268022" } ] }, { "id": "R-HSA-164651", "name": "Electron transfer from ubiquinol to cytochrome c of complex III", "equation": "", "summary": "The protonmotive Q cycle is the mechanism by which complex III transfers electrons from ubiquinol to cytochrome c, linking this process to translocation of protons across the membrane. This cycle is complicated by the fact that both ubiquinol is oxidised and ubiquinone is reduced during this process. Through a complex series of electron transfers, Complex III consumes two molecules of ubiquinol (QH2) and two molecules of oxidized cytochrome c, generates one molecule of ubiquinone (Q) and two molecules of reduced cytochrome c, regenerates one molecule of ubiquinol (QH2), and mediates the translocation of two protons from the mitochondrial matrix to the mitochondrial intermembrane space. The overall reaction can be summed up as

2QH2 + 2cyt c (ox.) + Q + 2H+ (matrix) = 2Q + 2cyt c (red.) + QH2 + 4H+ (intermemb. space)", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [ "R-ALL-76633" ], "output_participant_list": [], "enzyme_list": [ "P08574-1", "P47985-1" ], "evidence": [ { "id": "R-HSA-164651", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164651" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-76633", "participant_name": "QH2 [mitochondrial inner membrane]", "crossref": [ { "id": "C00390", "database": "COMPOUND", "url": "" }, { "id": "17976", "database": "ChEBI", "url": "" }, { "id": "8143934", "database": "PubChem Substance", "url": "" }, { "id": "000002047402", "database": "ZINC", "url": "" }, { "id": "C00390", "database": "COMPOUND", "url": "" }, { "id": "17976", "database": "ChEBI", "url": "" }, { "id": "8143934", "database": "PubChem Substance", "url": "" }, { "id": "000002047402", "database": "ZINC", "url": "" }, { "id": "C00390", "database": "COMPOUND", "url": "" }, { "id": "17976", "database": "ChEBI", "url": "" }, { "id": "8143934", "database": "PubChem Substance", "url": "" }, { "id": "000002047402", "database": "ZINC", "url": "" }, { "id": "C00390", "database": "COMPOUND", "url": "" }, { "id": "17976", "database": "ChEBI", "url": "" }, { "id": "8143934", "database": "PubChem Substance", "url": "" }, { "id": "000002047402", "database": "ZINC", "url": "" }, { "id": "C00390", "database": "COMPOUND", "url": "" }, { "id": "17976", "database": "ChEBI", "url": "" }, { "id": "8143934", "database": "PubChem Substance", "url": "" }, { "id": "000002047402", "database": "ZINC", "url": "" }, { "id": "C00390", "database": "COMPOUND", "url": "" }, { "id": "17976", "database": "ChEBI", "url": "" }, { "id": "8143934", "database": "PubChem Substance", "url": "" }, { "id": "000002047402", "database": "ZINC", "url": "" }, { "id": "C00390", "database": "COMPOUND", "url": "" }, { "id": "17976", "database": "ChEBI", "url": "" }, { "id": "8143934", "database": "PubChem Substance", "url": "" }, { "id": "000002047402", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D3ZFQ8", "gene_name": "Cyc1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "D3ZFQ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZFQ8" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "D3ZFQ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZFQ8" } ] } ] }, { "uniprot_ac": "O75390", "gene_name": "CS", "activity": [ { "ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] } ] }, { "uniprot_ac": "P00163", "gene_name": "COB", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "P00163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00163" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "P00163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00163" } ] } ] }, { "uniprot_ac": "P06576", "gene_name": "ATP5F1B", "activity": [ { "ec_number": "7.1.2.2", "activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] }, { "ec_number": "7.1.2.2", "activity": "", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] } ] }, { "uniprot_ac": "P07143", "gene_name": "CYT1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "P07143", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07143" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "P07143", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07143" } ] } ] }, { "uniprot_ac": "P08067", "gene_name": "RIP1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "P08067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08067" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "P08067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08067" } ] } ] }, { "uniprot_ac": "P08574", "gene_name": "CYC1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "P08574", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08574" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "P08574", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08574" } ] } ] }, { "uniprot_ac": "P10809", "gene_name": "HSPD1", "activity": [ { "ec_number": "5.6.1.7", "activity": "ATP + H2O + a folded polypeptide = ADP + phosphate + an unfolded polypeptide.", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] }, { "ec_number": "5.6.1.7", "activity": "", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] } ] }, { "uniprot_ac": "P20788", "gene_name": "Uqcrfs1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "P20788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20788" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "P20788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20788" } ] } ] }, { "uniprot_ac": "P47985", "gene_name": "UQCRFS1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "P47985", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47985" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "P47985", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47985" } ] } ] }, { "uniprot_ac": "Q54D07", "gene_name": "cyc1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "Q54D07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54D07" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "Q54D07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54D07" } ] } ] }, { "uniprot_ac": "Q54NW9", "gene_name": "ucr", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "Q54NW9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54NW9" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "Q54NW9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54NW9" } ] } ] }, { "uniprot_ac": "Q99798", "gene_name": "ACO2", "activity": [ { "ec_number": "4.2.1.3", "activity": "citrate = D-threo-isocitrate.", "evidence": [ { "id": "Q99798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99798" } ] }, { "ec_number": "4.2.1.3", "activity": "", "evidence": [ { "id": "Q99798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99798" } ] } ] }, { "uniprot_ac": "Q9CR68", "gene_name": "Uqcrfs1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "Q9CR68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CR68" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "Q9CR68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CR68" } ] } ] }, { "uniprot_ac": "Q9D0M3", "gene_name": "Cyc1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "Q9D0M3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D0M3" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "Q9D0M3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D0M3" } ] } ] }, { "uniprot_ac": "Q9VAM8", "gene_name": "Cyt-c1L", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "Q9VAM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VAM8" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "Q9VAM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VAM8" } ] } ] }, { "uniprot_ac": "Q9VQ29", "gene_name": "RFeSP", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "Q9VQ29", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VQ29" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "Q9VQ29", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VQ29" } ] } ] }, { "uniprot_ac": "Q9VRL0", "gene_name": "Cyt-c1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "Q9VRL0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VRL0" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "Q9VRL0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VRL0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 285 ], "glycation_sites": [], "phosphorylation_sites": [ 182 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 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"sort_fields": [ "title", "journal", "date", "authors" ] } ] }