{ "uniprot_canonical_ac": "O75489-1", "uniprot_ac": "O75489", "uniprot_id": "NDUS3_HUMAN", "mass": { "chemical_mass": 30242.0, "monoisotopic_mass": 30242.0 }, "refseq": { "ac": "NP_004542", "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor", "summary": "This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542" }, "gene_names": [ { "name": "NDUFS3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75489", "id": "O75489" }, { "name": "CI-30; MC1DN8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542", "id": "NP_004542" }, { "name": "NDUFS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542", "id": "NP_004542" }, { "name": "hCG_25184", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75489", "id": "O75489" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75489" }, { "name": "7.1.1.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75489" }, { "name": "CI-30kD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75489" }, { "name": "Complex I-30kD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75489" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542", "id": "NP_004542" }, { "name": "NADH-ubiquinone oxidoreductase 30 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75489" }, { "name": "complex I 30kDa subunit; NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase); NADH dehydrogenase-ubiquinone 30 kDa subunit; NADH-ubiquinone oxidoreductase 30 kDa subunit; CI-30kD; complex I-30kD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542", "id": "NP_004542" } ], "function": [ { "annotation": "Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_004542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542" }, { "database": "PubMed", "id": "33097395", "url": "https://glygen.org/publication/PubMed/33097395" } ] }, { "annotation": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14729820, PubMed:30140060). Essential for the catalytic activity and assembly of complex I (PubMed:14729820, PubMed:24028823, PubMed:30140060).", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489#function" }, { "database": "PubMed", "id": "30140060", "url": "https://glygen.org/publication/PubMed/30140060" }, { "database": "PubMed", "id": "14729820", "url": "https://glygen.org/publication/PubMed/14729820" }, { "database": "PubMed", "id": "24028823", "url": "https://glygen.org/publication/PubMed/24028823" } ] }, { "annotation": "NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.", "evidence": [ { "database": "RefSeq", "id": "NP_004542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542" }, { "database": "PubMed", "id": "37642954", "url": "https://glygen.org/publication/PubMed/37642954" } ] }, { "annotation": "NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.", "evidence": [ { "database": "RefSeq", "id": "NP_004542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542" }, { "database": "PubMed", "id": "33882309", "url": "https://glygen.org/publication/PubMed/33882309" } ] }, { "annotation": "This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_004542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542" } ] } ], "disease": [ { "disease_id": "DOID:0112081", "recommended_name": { "id": "DOID:0112081", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112081", "name": "nuclear type mitochondrial complex I deficiency 8", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2." }, "synonyms": [ { "id": "DOID:0112081", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112081", "name": "MC1DN8", "description": "" }, { "id": "MONDO:0032613", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032613", "name": "mitochondrial complex 1 deficiency, nuclear type 8", "description": "" }, { "id": "MONDO:0032613", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032613", "name": "MC1DN8", "description": "" }, { "id": "MONDO:0032613", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032613", "name": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8", "description": "" }, { "id": "MIM:618230", "resource": "MIM", "url": "https://www.omim.org/entry/618230", "name": "Mitochondrial complex I deficiency, nuclear type 8", "description": "Mitochondrial complex I deficiency, nuclear type 8" } ], "evidence": [ { "id": "618230", "database": "MIM", "url": "https://www.omim.org/entry/618230" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "86.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213619", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213619" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75489", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75489" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75489", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75489" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"" }, { "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": 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"sp|O75489-1|NDUS3_HUMAN Isoform 1 of NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFS3 PE=1 SV=1 CANONICAL=O75489-1" }, "isoforms": [ { "isoform_ac": "E9PJE7-1", "url": "", "sequence": { "sequence": "MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRREYVRAALFSELSAGPLRCLSLP", "length": 67, "header": "tr|E9PJE7-1|E9PJE7_HUMAN Computationally mapped isoform of NADH:ubiquinone oxidoreductase core subunit S3 OS=Homo sapiens OX=9606 GN=NDUFS3 PE=1 SV=1 CANONICAL=O75489-1" }, "locus": { "chromosome": "11", "start_pos": 47579402, "end_pos": 47579092, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529276.1", "url": "https://www.ensembl.org/id/ENST00000529276.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433753.1", "url": "https://www.ensembl.org/id/ENSP00000433753.1" } ] } }, { "isoform_ac": "E9PKL8-1", "url": "", "sequence": { "sequence": "MAAAAVARLWWRGILGASALTRATVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTF", "length": 77, "header": "tr|E9PKL8-1|E9PKL8_HUMAN Computationally mapped isoform of NADH:ubiquinone oxidoreductase core subunit S3 OS=Homo sapiens OX=9606 GN=NDUFS3 PE=1 SV=8 CANONICAL=O75489-1" }, "locus": { "chromosome": "11", "start_pos": 47580900, "end_pos": 47579092, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530295.5", "url": "https://www.ensembl.org/id/ENST00000530295.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431588.1", "url": "https://www.ensembl.org/id/ENSP00000431588.1" } ] } }, { "isoform_ac": "E9PS48-1", "url": "", "sequence": { "sequence": "MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVPTRQNRFETESCSVARLECSGMILAHCNLRLPGSSDSPASAP", "length": 161, "header": "tr|E9PS48-1|NDUS3_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFS3 PE=1 SV=1 CANONICAL=O75489-1" }, "locus": { "chromosome": "11", "start_pos": 47581277, "end_pos": 47579092, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528192.5", "url": "https://www.ensembl.org/id/ENST00000528192.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432099.1", "url": "https://www.ensembl.org/id/ENSP00000432099.1" } ] } }, { "isoform_ac": "G3V194-1", "url": "", "sequence": { "sequence": "MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVILTNVIWVWVKKEPCSQGMWEWADLFQRNYRFLHPKLGLFSQH", "length": 121, "header": "tr|G3V194-1|G3V194_HUMAN Computationally mapped isoform of NADH dehydrogenase (Ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase), isoform CRA_c OS=Homo sapiens OX=9606 GN=NDUFS3 PE=1 SV=1 CANONICAL=O75489-1" }, "locus": { "chromosome": "11", "start_pos": 47580754, "end_pos": 47579092, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534208.5", "url": "https://www.ensembl.org/id/ENST00000534208.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433405.1", "url": "https://www.ensembl.org/id/ENSP00000433405.1" } ] } }, { "isoform_ac": "O75489-1", "url": "", "sequence": { "sequence": "MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVPTRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFANHPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKRVVAEPVELAQEFRKFDLNSPWEAFPVYRQPPESLKLEAGDKKPDAK", "length": 264, "header": "sp|O75489-1|NDUS3_HUMAN Isoform 1 of NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFS3 PE=1 SV=1 CANONICAL=O75489-1" }, "locus": { "chromosome": "11", "start_pos": 47584478, "end_pos": 47579092, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263774.9", "url": "https://www.ensembl.org/id/ENST00000263774.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000263774.4", "url": "https://www.ensembl.org/id/ENSP00000263774.4" } ] } }, { "isoform_ac": "O75489-2", "url": "", "sequence": { "sequence": "MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVPTRQNRFEVSWEI", "length": 132, "header": "sp|O75489-2|NDUS3_HUMAN Isoform 2 of NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFS3 PE=1 SV=1 CANONICAL=O75489-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 21, "start_aa": "Thr", "end_pos": 21, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr21", "evidence": [ { "id": "O75489", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75489" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "24126823", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24126823" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75489", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75489" } ] } ], "phosphorylation": [], "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": "Biological and regulatory properties of Vav-3, a new member of the Vav family of oncoproteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Movilla N, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "10523675", "url": "https://glygen.org/publication/PubMed/10523675" } ] }, { "title": "TrioGEF1 controls Rac- and Cdc42-dependent cell structures through the direct activation of rhoG.", "journal": "Journal of cell science", "date": "2000", "authors": "Blangy A, Vignal E, Schmidt S, Debant A, Gauthier-Rouviere C, Fort P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "10652265", "url": "https://glygen.org/publication/PubMed/10652265" } ] }, { "title": "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Hu R M, Han Z G, Song H D, Peng Y D, Huang Q H, Ren S X, Gu Y J, Huang C H, Li Y B, Jiang C L, Fu G, Zhang Q H, Gu B W, Dai M, Mao Y F, Gao G F, Rong R, Ye M, Zhou J, Xu S H, Gu J, Shi J X, Jin W R, Zhang C K, Wu T M, Huang G Y, Chen Z, Chen M D, Chen J L", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "reference": [ { "type": "PubMed", "id": "10931946", "url": "https://glygen.org/publication/PubMed/10931946" } ] }, { "title": "Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression.", "journal": "Mamm. Genome", "date": "2000", "authors": "Procaccio V, Lescuyer P, Bourges I, Beugnot R, Duborjal H, Depetris D, Mousson B, Montfort MF, Smeets H, De Coo R, Issartel JP", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "reference": [ { "type": "PubMed", "id": "10967146", "url": "https://glygen.org/publication/PubMed/10967146" } ] }, { "title": "Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.", "journal": "Annals of neurology", "date": "2001", "authors": "Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "11220739", "url": "https://glygen.org/publication/PubMed/11220739" } ] }, { "title": "Kinectin is a key effector of RhoG microtubule-dependent cellular activity.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Vignal E, Blangy A, Martin M, Gauthier-Rouviere C, Fort P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "11689693", "url": "https://glygen.org/publication/PubMed/11689693" } ] }, { "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 Human Rho-GEF trio and its target GTPase RhoG are involved in the NGF pathway, leading to neurite outgrowth.", "journal": "Current biology : CB", "date": "2002", "authors": "Estrach S, Schmidt S, Diriong S, Penna A, Blangy A, Fort P, Debant A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "11864571", "url": "https://glygen.org/publication/PubMed/11864571" } ] }, { "title": "Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang SG, Ortega J, Singh SK, Wang N, Huang NN, Steven AC, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "11923310", "url": "https://glygen.org/publication/PubMed/11923310" } ] }, { "title": "RhoGDI-3 regulates RhoG and targets this protein to the Golgi complex through its unique N-terminal domain.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2002", "authors": "Brunet N, Morin A, Olofsson B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "11967128", "url": "https://glygen.org/publication/PubMed/11967128" } ] }, { "title": "Kalirin Dbl-homology guanine nucleotide exchange factor 1 domain initiates new axon outgrowths via RhoG-mediated mechanisms.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "May V, Schiller MR, Eipper BA, Mains RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "12177196", "url": "https://glygen.org/publication/PubMed/12177196" } ] }, { "title": "Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.", "journal": "Nature cell biology", "date": "2002", "authors": "Bota DA, Davies KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "12198491", "url": "https://glygen.org/publication/PubMed/12198491" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12231006", "url": "https://glygen.org/publication/PubMed/12231006" } ] }, { "title": "RhoG signals in parallel with Rac1 and Cdc42.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wennerberg K, Ellerbroek SM, Liu RY, Karnoub AE, Burridge K, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "12376551", "url": "https://glygen.org/publication/PubMed/12376551" } ] }, { "title": "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "reference": [ { "type": "PubMed", "id": "12611891", "url": "https://glygen.org/publication/PubMed/12611891" } ] }, { "title": "The nuclear encoded subunits of complex I from bovine heart mitochondria.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12837546", "url": "https://glygen.org/publication/PubMed/12837546" } ] }, { "title": "Saturation kinetics of coenzyme Q in NADH and succinate oxidation in beef heart mitochondria.", "journal": "FEBS letters", "date": "1992", "authors": "Estornell E, Fato R, Castelluccio C, Cavazzoni M, Parenti Castelli G, Lenaz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "1327877", "url": "https://glygen.org/publication/PubMed/1327877" } ] }, { "title": "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "14623864", "url": "https://glygen.org/publication/PubMed/14623864" } ] }, { "title": "Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "reference": [ { "type": "PubMed", "id": "14729820", "url": "https://glygen.org/publication/PubMed/14729820" } ] }, { "title": "The gross structure of the respiratory complex I: a Lego System.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Friedrich T, Bottcher B", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "14741580", "url": "https://glygen.org/publication/PubMed/14741580" } ] }, { "title": "SGEF, a RhoG guanine nucleotide exchange factor that stimulates macropinocytosis.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Ellerbroek SM, Wennerberg K, Arthur WT, Dunty JM, Bowman DR, DeMali KA, Der C, Burridge K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "15133129", "url": "https://glygen.org/publication/PubMed/15133129" } ] }, { "title": "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.", "journal": "The Biochemical journal", "date": "2004", "authors": "Bourges I, Ramus C, Mousson de Camaret B, Beugnot R, Remacle C, Cardol P, Hofhaus G, Issartel JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "15250827", "url": "https://glygen.org/publication/PubMed/15250827" } ] }, { "title": "Crystallography and mutagenesis point to an essential role for the N-terminus of human mitochondrial ClpP.", "journal": "Journal 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"organism": "Drosophila melanogaster", "sequence": { "sequence": "MAALIRNLGARAAVAALSAKHVVPAAGSTALRMASTTPVEPKKADKPTVRQPDAVARSHLSDFGRYVAECLPKYVQKVQLTAGDELEVLIAPEGVVPVLQFLKDHHQAQFTNLVDIAGVDVPCRKNRFEVVYNLLSLRYNSRIRVKTYTDELTPLDSACEVHKAANWYEREIWDMYGVFFANHPDLRRILTDYGFEGHPQRRDFPLSGYVELRYDDEKKRVVCEPLELAQEFRKFDLSAPWEQFPNFRNANPPAEVVPPQAPAKK", "length": 265 }, "evidence": [ { "id": "O75489", "url": "https://omabrowser.org/oma/group/O75489/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "NADH dehydrogenase activity", "id": "GO:0003954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003954", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "NADH dehydrogenase (ubiquinone) activity", "id": "GO:0008137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008137", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex I", "id": "GO:0005747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005747", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "substantia nigra development", "id": "GO:0021762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021762", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001243", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "O75489", "url": "https://www.uniprot.org/uniprot/O75489" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "29091", "name": "", "equation": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P03889-1", "P11662-1", "P19234-1", "P05507-1", "Q66HF1-1", "P05506-1", "P05508-1", "P11661-1", "Q641Y2-1", "P03926-1", "Q5XIH3-1", "P03897-1", "P03915-1", "P03923-1", "P03891-1", "P03905-1", "P03886-1", "P28331-1", "O00217-1", "O75306-1", "O75489-1", "O75251-1", "P49821-1", "P19404-1", "P03901-1", "P03888-1", "Q91VD9-1", "Q91WD5-1", "Q8K3J1-1", "P03899-1", "P03921-1", "P03893-1", "P03911-1", "P03925-1", "Q9DCT2-1", "Q9DC70-1", "P03903-1", "Q91YT0-1", "Q9D6J6-1", "Q55CD9-1", "O21047-1", "O21048-1", "P22237-1", "Q34313-1", "Q37312-1", "Q37313-1", "Q37314-1", "Q54F10-1", "Q9XK79-1", "Q23883-1", "Q34312-1", "Q54I90-1", "P18930-1", "P18931-1", "P18932-1", "P18934-1", "Q94511-1", "Q9VF27-1", "Q9VZU4-1", "P03896-1", "P18929-1", "P18933-1", "Q9VMI3-1" ], "evidence": [ { "id": "29091", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/29091" } ] }, { "id": "R-HSA-163217", "name": "Complex I oxidises NADH to NAD+, reduces CoQ to QH2", "equation": "", "summary": "Complex I (NADH:ubiquinone oxidoreductase or NADH dehydrogenase) utilizes NADH formed from glycolysis and the TCA cycle to pump protons out of the mitochondrial matrix. It is the largest enzyme complex in the electron transport chain, containing 45 subunits. Seven subunits (ND1-6, ND4L) are encoded by mitochondrial DNA (Loeffen et al [1998]), the remainder are encoded in the nucleus. The enzyme has a FMN prosthetic group and 8 Iron-Sulfur (Fe-S) clusters. The electrons from NADH oxidation pass through the flavin (FMN) and Fe-S clusters to ubiquinone (CoQ). This electron transfer is coupled with the translocation of protons from the mitochondrial matrix to the intermembrane space. For each electron transferred, 2 protons can be pumped out of the matrix. As there are 2 electrons transferred, 4 protons can be pumped out.
Complex I is made up of 3 sub-complexes - Iron-Sulfur protein fraction (IP), Flavoprotein fraction (FP) and the Hydrophobic protein fraction (HP), probably arranged in an L-shaped structure with the IP and FP fractions protruding into the mitochondrial matrix and the HP arm lying within the inner mitochondrial membrane. The overall reaction can be summed as below:
NADH + Ubiquinone + 5H+ (mito. matrix) = NAD+ + Ubiquinol + 4H+ (intermemb. space)
The electrons from complex I are transferred to ubiquinone (Coenzyme Q, CoQ), a small mobile carrier of electrons located within the inner membrane. Ubiquinone is reduced to ubiquinol (QH2) during this process.

Mitochondrial coenzyme Q-binding protein COQ10 homologs A and B (COQ10A and B) are thought to be required for correct coenzyme CoQ in the respiratory chain. Their function in humans is unknown but the yeast model suggests functions in facilitating de novo CoQ biosynthesis and in delivering it to one or more complexes of the respiratory electron transport chain (Barros et al. 2005, Allan et al. 2013).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [ "R-ALL-73663" ], "output_participant_list": [], "enzyme_list": [ "P19404-1", "P03891-1", "P03905-1", "P28331-1", "O00217-1", "O75251-1", "O75306-1", "O75489-1", "P03886-1", "P03897-1", "P49821-1", "P03915-1", "P03923-1" ], "evidence": [ { "id": "R-HSA-163217", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163217" } ] }, { "id": "R-HSA-6799178", "name": "Intermediate 1 binds HP subcomplex to form Intermediate 2", "equation": "", "summary": "The hydrophobic protein fraction (HP) is assembled with NDUFA3, 8, 9 and 13 amongst many others and anchored to the inner mitochondrial membrane by Intermediate 1 assembly factors NDUFAF3 (C3orf60), NDUFAF4 (C6orf66) and TIMMDC1 (C3orf1) to form Intermediate 2 (Mckenzie & Ryan 2010, Andrews et al. 2013).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00217-1", "O75251-1", "O75306-1", "O75489-1", "Q7L592-1" ], "evidence": [ { "id": "R-HSA-6799178", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799178" } ] }, { "id": "R-HSA-6799179", "name": "Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex", "equation": "", "summary": "Subunits NDUFA12, NDUFS1, 4, 6, NDUFV1, 2 and 3 with the assembly factor NDUFAF2 comprises the peripheral arm, called the flavoprotein (FP) subcomplex. In addition, remaining subunits such as NDUFS5 join here (Mimaki et al. 2012).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P19404-1", "P03891-1", "P03905-1", "P28331-1", "O00217-1", "O75251-1", "O75306-1", "O75489-1", "P03886-1", "Q7L592-1", "P03897-1", "Q9H845-1", "P49821-1", "Q5TEU4-1", "P03915-1", "P03923-1" ], "evidence": [ { "id": "R-HSA-6799179", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799179" } ] }, { "id": "R-HSA-6799191", "name": "Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex", "equation": "", "summary": "A complex I intermediate of 315kDa (reestimated from the original 400kDa) is formed centred around the core subunits NADH dehydrogenase [ubiquinone] iron-sulfur proteins 2 and 3 (NDUFS2 and NDUFS3) with other complex I subunits and assembly factor subunits (forming IP and HP subcomplexes). The IP subcomplex is anchored to the inner mitochondrial membrane by NADH-ubiquinone oxidoreductase chain 1 (MT-ND1) (together with NDUFAF5 and/or 6) (Mckenzie & Ryan 2010, Andrews et al. 2013).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00217-1", "O75251-1", "O75306-1", "O75489-1", "P03886-1", "Q7L592-1", "Q5TEU4-1" ], "evidence": [ { "id": "R-HSA-6799191", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799191" } ] }, { "id": "R-HSA-6799196", "name": "The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I", "equation": "", "summary": "In the last step, the MCIA complex and it is assumed all of the assembly factors (NDUFAF2-7, TIMMDC1) dissociate from the 980kDa complex to leave mature Complex I (Mckenzie & Ryan 2010, Andrews et al. 2013).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P19404-1", "P03891-1", "P03905-1", "P28331-1", "O00217-1", "O75251-1", "O75306-1", "O75489-1", "P03886-1", "Q7L592-1", "P03897-1", "Q9H845-1", "P49821-1", "Q5TEU4-1", "P03915-1", "P03923-1" ], "evidence": [ { "id": "R-HSA-6799196", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799196" } ] }, { "id": "R-HSA-6799197", "name": "ND4, ND5 bind the 550kDa complex to form the 815kDa complex", "equation": "", "summary": "Distal components of the membrane arm MT-ND4 and 5 associate with the 550kDa complex to form the 815kDa complex (Mckenzie & Ryan 2010, Andrews et al. 2013).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P03891-1", "P03905-1", "O00217-1", "O75251-1", "O75306-1", "O75489-1", "P03886-1", "Q7L592-1", "P03897-1", "Q9H845-1", "Q5TEU4-1", "P03915-1", "P03923-1" ], "evidence": [ { "id": "R-HSA-6799197", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799197" } ] }, { "id": "R-HSA-6799202", "name": "The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex", "equation": "", "summary": "The 315kDa and 370kDa subcomplexes associate to form a 550kDa complex (Mckenzie & Ryan 2010, Andrews et al. 2013).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P03891-1", "O00217-1", "O75251-1", "O75306-1", "O75489-1", "P03886-1", "Q7L592-1", "P03897-1", "Q9H845-1", "Q5TEU4-1", "P03923-1" ], "evidence": [ { "id": "R-HSA-6799202", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799202" } ] }, { "id": "R-HSA-6799203", "name": "IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1", "equation": "", "summary": "Complex I assembly begins with the formation of a 315kDa subcomplex, centred around the core subunits NADH dehydrogenase [ubiquinone] iron-sulfur proteins 2 and 3 (NDUFS2 and NDUFS3) (Mckenzie & Ryan 2010, Mimaki et al. 2012, Andrews et al. 2013). NDUFS2 is thought to be bound to NDUFAF7 (Carilla-Latorre et al. 2010). Defects in NDUFS2 can cause mitochondrial complex I deficiency (MT-C1D; OMIM:252010), causing a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders (Loeffen et al. 2001). As an initial part of the 315kDa subcomplex, the subunits NDUFS7, S8 and A9, together with NDUFS2 and S3, form an evolutionarily conserved hydrogenase module as part of the Iron-Sulfur protein fraction (IP) subcomplex (termed Intermediate 1 here) (Mckenzie & Ryan 2010, Andrews et al. 2013).", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00217-1", "O75251-1", "O75306-1", "O75489-1", "Q7L592-1" ], "evidence": [ { "id": "R-HSA-6799203", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799203" } ] }, { "id": "R-HSA-6800868", "name": "NDUF subunits bind to form the IP subcomplex", "equation": "", "summary": "The subunits NDUFS7, S8 and A9, together with NDUFS2 and S3, form an evolutionarily conserved hydrogenase module as part of the Iron-Sulfur protein fraction (IP) subcomplex (Mckenzie & Ryan 2010, Andrews et al. 2013).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00217-1", "O75251-1", "O75306-1", "O75489-1", "Q7L592-1" ], "evidence": [ { "id": "R-HSA-6800868", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800868" } ] }, { "id": "R-HSA-9014449", "name": "RHOG binds effectors at the plasma membrane", "equation": "", "summary": "Activated GTP bound RHOG binds to the following effectors at the plasma membrane:
DOCK1 (Katoh et al. 2006, Bagci et al. 2020)
DOCK2 (Damoulakis et al. 2014)
DOCK3 (Namekata et al. 2012)
DOCK4 (Hiramoto\u2011Yamaki et al. 2010, Hiramoto et al. 2006, Bagci et al. 2020 )
IQGAP2 (Wennerberg et al. 2002)
MAP3K11 (Wennerberg et al. 2002)
PLEKHG3 (Bagci et al. 2020)
PLD1 (Wennerberg et al. 2002)

The following candidate effectors that localize to the plasma membrane or cytosol have been found to bind to active RHOG in the high throughput screen by Bagci et al. 2020:
ARFGAP3 (Bagci et al. 2020)
CAV1 (Bagci et al. 2020)
CDC42 (Bagci et al. 2020)
CDC42EP1 (Bagci et al. 2020)
CYFIP1 (Bagci et al. 2020)
DEPDC1B (Bagci et al. 2020)
DIAPH3 (Bagci et al. 2020)
DOCK5 (Bagci et al. 2020)
DSG2 (Bagci et al. 2020)
ELMO2 (Bagci et al. 2020)
EPHA2 (Bagci et al. 2020)
ERBIN (Bagci et al. 2020)
HSPE1 (Bagci et al. 2020)
ITGB1 (Bagci et al. 2020)
KIAA0355 (Bagci et al. 2020)
LAMTOR1 (Bagci et al. 2020)
MCAM (Bagci et al. 2020)
MPP7 (Bagci et al. 2020)
NDUFA5 (Bagci et al. 2020)
NDUFS3 (Bagci et al. 2020)
PAK2 (Bagci et al. 2020)
PAK4 (Bagci et al. 2020)
RAB7A (Bagci et al. 2020)
SHMT2 (Bagci et al. 2020)
STBD1 (Bagci et al. 2020)
TFRC (Bagci et al. 2020)
TMPO (Bagci et al. 2020)
VAMP3 (Bagci et al. 2020)
VANGL1 (Bagci et al. 2020)

Activated RHOG does not act on or does not bind to the following putative effectors in the high throughput screen by Bagci et al. 2020:
ABI1 (Bagci et al. 2020)
ABI2 (Bagci et al. 2020)
ABL2 (Bagci et al. 2020)
AMIGO2 (Bagci et al. 2020)
ARAP2 (Bagci et al. 2020)
ARMCX3 (Bagci et al. 2020)
BAIAP2 (Wennerberg et al. 2002, Bagci et al. 2020)
BAIAP2L1 (Bagci et al. 2020)
BRK1 (Bagci et al. 2020)
CDC42EP4 (Bagci et al. 2020)
FERMT2 (Bagci et al. 2020)
GIT1 (Bagci et al. 2020)
GIT2 (Bagci et al. 2020)
IL32 (Bagci et al. 2020)
JAG1 (Bagci et al. 2020)
NCKAP1 (Bagci et al. 2020)
NHS (Bagci et al. 2020)
PAK1 (Wennerberg et al. 2002)
PAK5 (Wennerberg et al. 2002)
PAK6 (Wennerberg et al. 2002)
PARD6A (Wennerberg et al. 2002)
PLEKHG4 (Bagci et al. 2020)
RAPGEF1 (Bagci et al. 2020)
SLC1A5 (Bagci et al. 2020)
SLITRK3 (Bagci et al. 2020)
SLITRK5 (Bagci et al. 2020)
SNAP23 (Bagci et al. 2020)
SWAP70 (Bagci et al. 2020)
TAOK3 (Bagci et al. 2020)
WAS (WASP) (Wennerberg et al. 2002)
WASF1 (Bagci et al. 2020)
WASF2 (Bagci et al. 2020)

Activated RHOG interacts with the WAVE complex component CYFIP1 (Bagci et al. 2020), but not with the WAVE complex components WASF1 and WASF2 (Bagci et al. 2020). The WAVE complex is not annotated as a RHOG effector.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13393-1", "O75489-1", "P60953-2", "P34897-1", "Q13177-1", "O96013-1", "Q16584-1", "P29317-1", "P51149-1" ], "evidence": [ { "id": "R-HSA-9014449", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9014449" } ] }, { "id": "R-HSA-9838035", "name": "CLPXP binds mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex is an ATP-dependent protease located in the mitochondrial matrix that binds, unfolds, and degrades a specific set of protein substrates. The CLPXP complex comprises two heptameric rings of CLPP protease subunits and two hexameric rings of CLPX ATPase subunits (Kang et al. 2002, 2005). Upon binding the CLPXP complex, substrate proteins are unfolded by CLPX in an ATP-dependent reaction and translocated to the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex interacts with more than 200 mitochondrial proteins (Cole et al. 2015, Ishizawa et al. 2019, Mabanglo et al. 2022) and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ERAL1, a putative 12S rRNA chaperone (inferred from mouse homologs in Szczepanowska et al. 2016, Key et al. 2022) and heme-bound ALAS1 (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is also thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838035", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838035" } ] }, { "id": "R-HSA-9838289", "name": "CLPXP degrades mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex comprises two heptameric rings of the barrel-shaped CLPP protease and two hexameric rings of the AAA+ CLPX ATPase (Kang et al. 2002, 2005). Though isolated CLPP subunits have peptidase activity, they only have significant protease activity when complexed with CLPX (Kang et al. 2005). The CLPX subunit unfolds proteins so they can enter the axial pore of the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex binds and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ALAS1 bound to heme (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023). Peptides produced by CLPXP are transported from the mitochondria into the cytosol and activate ATF5 (ATFS-1 in C. elegans). ATF5 subsequently translocates to the nucleus where it enhances the expression of mitochondrial proteases (CLPP and LONP1) and chaperones (HSP60 and GRP75) to restore proteostasis (inferred from C. elegans homologs in Haynes et al. 2010, inferred from mouse homologs in Deepa et al. 2016, Fiorese et al. 2016, inferred from rat homologs in Lian et al. 2023). Recessive mutations in the CLPP subunit of the CLPXP complex cause Perreault Syndrome, which is characterized by congenital sensorineural loss, ataxia, azoospermia (male infertility), ovarian failure, psychomotor retardation, ataxia, autism and epilepsy (Jenkinson et al. 2013, Demain et al. 2017, Faridi et al. 2022).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838289" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-73663", "participant_name": "CoQ [mitochondrial inner membrane]", "crossref": [ { "id": "46245", "database": "ChEBI", "url": "" }, { "id": "000085427689", "database": "ZINC", "url": "" }, { "id": "C00399", "database": "COMPOUND", "url": "" }, { "id": "C11378", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001072", "database": "HMDB Metabolite", "url": "" }, { "id": "C00399", "database": "COMPOUND", "url": "" }, { "id": "46245", "database": "ChEBI", "url": "" }, { "id": "HMDB0001072", "database": "HMDB Metabolite", "url": "" }, { "id": "000085427689", "database": "ZINC", "url": "" }, { "id": "C11378", "database": "COMPOUND", "url": "" }, { "id": "C00399", "database": "COMPOUND", "url": "" }, { "id": "46245", "database": "ChEBI", "url": "" }, { "id": "HMDB0001072", "database": "HMDB Metabolite", "url": "" }, { "id": "000085427689", "database": "ZINC", "url": "" }, { "id": "C11378", "database": "COMPOUND", "url": "" }, { "id": "C00399", "database": "COMPOUND", "url": "" }, { "id": "46245", "database": "ChEBI", "url": "" }, { "id": "HMDB0001072", "database": "HMDB Metabolite", "url": "" }, { "id": "000085427689", "database": "ZINC", "url": "" }, { "id": "C11378", "database": "COMPOUND", "url": "" }, { "id": "C00399", "database": "COMPOUND", "url": "" }, { "id": "46245", "database": "ChEBI", "url": "" }, { "id": "HMDB0001072", "database": "HMDB Metabolite", "url": "" }, { "id": "000085427689", "database": "ZINC", "url": "" }, { "id": "C11378", "database": "COMPOUND", "url": "" }, { "id": "C00399", "database": "COMPOUND", "url": "" }, { "id": "46245", "database": "ChEBI", "url": "" }, { "id": "HMDB0001072", "database": "HMDB Metabolite", "url": "" }, { "id": "000085427689", "database": "ZINC", "url": "" }, { "id": "C11378", "database": "COMPOUND", "url": "" }, { "id": "C00399", "database": "COMPOUND", "url": "" }, { "id": "46245", "database": "ChEBI", "url": "" }, { "id": "HMDB0001072", "database": "HMDB Metabolite", "url": "" }, { "id": "000085427689", "database": "ZINC", "url": "" }, { "id": "C11378", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00217", "gene_name": "NDUFS8", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O00217", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00217" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O00217", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00217" } ] } ] }, { "uniprot_ac": "O21047", "gene_name": "nad4", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O21047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O21047" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O21047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O21047" } ] } ] }, { "uniprot_ac": "O21048", "gene_name": "nad2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O21048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O21048" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O21048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O21048" } ] } ] }, { "uniprot_ac": "O75251", "gene_name": "NDUFS7", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O75251", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75251" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O75251", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75251" } ] } ] }, { "uniprot_ac": "O75306", "gene_name": "NDUFS2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O75306", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75306" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O75306", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75306" } ] } ] }, { "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": "O75489", "gene_name": "NDUFS3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] } ] }, { "uniprot_ac": "O96013", "gene_name": "PAK4", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O96013", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96013" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O96013", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96013" } ] } ] }, { "uniprot_ac": "P03886", "gene_name": "MT-ND1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03886", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03886" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03886", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03886" } ] } ] }, { "uniprot_ac": "P03888", "gene_name": "Mtnd1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03888", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03888" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03888", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03888" } ] } ] }, { "uniprot_ac": "P03889", "gene_name": "Mtnd1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03889", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03889" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03889", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03889" } ] } ] }, { "uniprot_ac": "P03891", "gene_name": "MT-ND2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03891" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03891" } ] } ] }, { "uniprot_ac": "P03893", "gene_name": "mt-Nd2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03893", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03893" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03893", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03893" } ] } ] }, { "uniprot_ac": "P03896", "gene_name": "mt:ND2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03896" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03896" } ] } ] }, { "uniprot_ac": "P03897", "gene_name": "MT-ND3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03897", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03897" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03897", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03897" } ] } ] }, { "uniprot_ac": "P03899", "gene_name": "mt-Nd3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03899", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03899" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03899", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03899" } ] } ] }, { "uniprot_ac": "P03901", "gene_name": "MT-ND4L", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03901", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03901" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03901", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03901" } ] } ] }, { "uniprot_ac": "P03903", "gene_name": "Mtnd4l", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03903", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03903" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03903", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03903" } ] } ] }, { "uniprot_ac": "P03905", "gene_name": "MT-ND4", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03905", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03905" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03905", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03905" } ] } ] }, { "uniprot_ac": "P03911", "gene_name": "Mtnd4", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03911" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03911" } ] } ] }, { "uniprot_ac": "P03915", "gene_name": "MT-ND5", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03915", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03915" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03915", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03915" } ] } ] }, { "uniprot_ac": "P03921", "gene_name": "Mtnd5", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03921", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03921" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03921", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03921" } ] } ] }, { "uniprot_ac": "P03923", "gene_name": "MT-ND6", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03923" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03923" } ] } ] }, { "uniprot_ac": "P03925", "gene_name": "Mtnd6", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03925", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03925" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03925", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03925" } ] } ] }, { "uniprot_ac": "P03926", "gene_name": "Mtnd6", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P03926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03926" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P03926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03926" } ] } ] }, { "uniprot_ac": "P05091", "gene_name": "ALDH2", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P05091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P05091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] } ] }, { "uniprot_ac": "P05506", "gene_name": "mt-Nd3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P05506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05506" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P05506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05506" } ] } ] }, { "uniprot_ac": "P05507", "gene_name": "Mtnd4l", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P05507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05507" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P05507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05507" } ] } ] }, { "uniprot_ac": "P05508", "gene_name": "Mtnd4", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P05508", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05508" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P05508", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05508" } ] } ] }, { "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": "P07954", "gene_name": "FH", "activity": [ { "ec_number": "4.2.1.2", "activity": "(S)-malate = fumarate + H2O.", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] }, { "ec_number": "4.2.1.2", "activity": "", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] } ] }, { "uniprot_ac": "P08559", "gene_name": "PDHA1", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] } ] }, { "uniprot_ac": "P09622", "gene_name": "DLD", "activity": [ { "ec_number": "1.8.1.4", "activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + NAD(+) = H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[protein] + NADH.", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] }, { "ec_number": "1.8.1.4", "activity": "", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] } ] }, { "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": "P11177", "gene_name": "PDHB", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] } ] }, { "uniprot_ac": "P11661", "gene_name": "Mtnd5", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P11661", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11661" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P11661", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11661" } ] } ] }, { "uniprot_ac": "P11662", "gene_name": "mt-Nd2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P11662", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11662" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P11662", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11662" } ] } ] }, { "uniprot_ac": "P13196", "gene_name": "ALAS1", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] } ] }, { "uniprot_ac": "P18929", "gene_name": "mt:ND1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P18929", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18929" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P18929", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18929" } ] } ] }, { "uniprot_ac": "P18930", "gene_name": "mt:ND3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P18930", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18930" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P18930", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18930" } ] } ] }, { "uniprot_ac": "P18931", "gene_name": "mt:ND4", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P18931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18931" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P18931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18931" } ] } ] }, { "uniprot_ac": "P18932", "gene_name": "mt:ND5", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P18932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18932" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P18932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18932" } ] } ] }, { "uniprot_ac": "P18933", "gene_name": "mt:ND6", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P18933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18933" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P18933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18933" } ] } ] }, { "uniprot_ac": "P18934", "gene_name": "mt:ND4L", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P18934", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18934" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P18934", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18934" } ] } ] }, { "uniprot_ac": "P19234", "gene_name": "Ndufv2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P19234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19234" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P19234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19234" } ] } ] }, { "uniprot_ac": "P19404", "gene_name": "NDUFV2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P19404", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19404" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P19404", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19404" } ] } ] }, { "uniprot_ac": "P22237", "gene_name": "nad9", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P22237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22237" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P22237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22237" } ] } ] }, { "uniprot_ac": "P22830", "gene_name": "FECH", "activity": [ { "ec_number": "4.98.1.1", "activity": "2 H(+) + heme b = Fe(2+) + protoporphyrin IX.", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] }, { "ec_number": "4.98.1.1", "activity": "", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] } ] }, { "uniprot_ac": "P23368", "gene_name": "ME2", "activity": [ { "ec_number": "1.1.1.38", "activity": "H(+) + oxaloacetate = CO2 + pyruvate.", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] }, { "ec_number": "1.1.1.38", "activity": "", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] } ] }, { "uniprot_ac": "P24752", "gene_name": "ACAT1", "activity": [ { "ec_number": "2.3.1.9", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] } ] }, { "uniprot_ac": "P28331", "gene_name": "NDUFS1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] } ] }, { "uniprot_ac": "P29317", "gene_name": "EPHA2", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] } ] }, { "uniprot_ac": "P30837", "gene_name": "ALDH1B1", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] } ] }, { "uniprot_ac": "P34897", "gene_name": "SHMT2", "activity": [ { "ec_number": "2.1.2.1", "activity": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + glycine + H2O = (6S)-5,6,7,8-tetrahydrofolate + L-serine.", "evidence": [ { "id": "P34897", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34897" } ] }, { "ec_number": "2.1.2.1", "activity": "", "evidence": [ { "id": "P34897", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34897" } ] } ] }, { "uniprot_ac": "P40926", "gene_name": "MDH2", "activity": [ { "ec_number": "1.1.1.37", "activity": "(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate.", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40926" } ] }, { "ec_number": "1.1.1.37", "activity": "", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40926" } ] } ] }, { "uniprot_ac": "P42126", "gene_name": "ECI1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] } ] }, { "uniprot_ac": "P48735", "gene_name": "IDH2", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] } ] }, { "uniprot_ac": "P49753", "gene_name": "ACOT2", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] } ] }, { "uniprot_ac": "P49821", "gene_name": "NDUFV1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P49821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49821" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P49821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49821" } ] } ] }, { "uniprot_ac": "P50213", "gene_name": "IDH3A", "activity": [ { "ec_number": "1.1.1.41", "activity": "D-threo-isocitrate + NAD(+) = 2-oxoglutarate + CO2 + NADH.", "evidence": [ { "id": "P50213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50213" } ] }, { "ec_number": "1.1.1.41", "activity": "", "evidence": [ { "id": "P50213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50213" } ] } ] }, { "uniprot_ac": "P51149", "gene_name": "RAB7A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] } ] }, { "uniprot_ac": "P55809", "gene_name": "OXCT1", "activity": [ { "ec_number": "2.8.3.5", "activity": "a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate.", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] }, { "ec_number": "2.8.3.5", "activity": "", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] } ] }, { "uniprot_ac": "P60953", "gene_name": "CDC42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] } ] }, { "uniprot_ac": "P78540", "gene_name": "ARG2", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] } ] }, { "uniprot_ac": "Q02218", "gene_name": "OGDH", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase] = CO2 + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase].", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] } ] }, { "uniprot_ac": "Q02338", "gene_name": "BDH1", "activity": [ { "ec_number": "1.1.1.30", "activity": "(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + H(+) + NADH.", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] }, { "ec_number": "1.1.1.30", "activity": "", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q13177", "gene_name": "PAK2", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13177" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13177" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphate + choline + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] } ] }, { "uniprot_ac": "Q15118", "gene_name": "PDK1", "activity": [ { "ec_number": "2.7.11.-", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit].", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] } ] }, { "uniprot_ac": "Q16584", "gene_name": "MAP3K11", "activity": [ { "ec_number": "2.7.11.25", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16584" } ] }, { "ec_number": "2.7.11.25", "activity": "", "evidence": [ { "id": "Q16584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16584" } ] } ] }, { "uniprot_ac": "Q16740", "gene_name": "CLPP", "activity": [ { "ec_number": "3.4.21.92", "activity": "Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr-|-NHMec, and Leu-Tyr-Leu-|-Tyr-Trp, in which cleavage of the -Tyr-|-Leu- and -Tyr-|-Trp bonds also occurs).", "evidence": [ { "id": "Q16740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16740" } ] }, { "ec_number": "3.4.21.92", "activity": "", "evidence": [ { "id": "Q16740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16740" } ] } ] }, { "uniprot_ac": "Q16836", "gene_name": "HADH", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] } ] }, { "uniprot_ac": "Q23883", "gene_name": "nad7", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q23883", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q23883" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q23883", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q23883" } ] } ] }, { "uniprot_ac": "Q34312", "gene_name": "nad11", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q34312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q34312" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q34312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q34312" } ] } ] }, { "uniprot_ac": "Q34313", "gene_name": "nad5", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q34313", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q34313" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q34313", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q34313" } ] } ] }, { "uniprot_ac": "Q37312", "gene_name": "nad3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q37312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q37312" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q37312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q37312" } ] } ] }, { "uniprot_ac": "Q37313", "gene_name": "nad1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q37313", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q37313" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q37313", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q37313" } ] } ] }, { "uniprot_ac": "Q37314", "gene_name": "nad6", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q37314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q37314" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q37314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q37314" } ] } ] }, { "uniprot_ac": "Q54F10", "gene_name": "ndufv2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q54F10", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54F10" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q54F10", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54F10" } ] } ] }, { "uniprot_ac": "Q54I90", "gene_name": "ndufv1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q54I90", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54I90" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q54I90", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54I90" } ] } ] }, { "uniprot_ac": "Q55CD9", "gene_name": "", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q55CD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55CD9" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q55CD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55CD9" } ] } ] }, { "uniprot_ac": "Q5TEU4", "gene_name": "NDUFAF5", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q5TEU4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5TEU4" } ] }, { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q5TEU4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5TEU4" } ] } ] }, { "uniprot_ac": "Q5XIH3", "gene_name": "Ndufv1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q5XIH3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIH3" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q5XIH3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIH3" } ] } ] }, { "uniprot_ac": "Q641Y2", "gene_name": "Ndufs2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q641Y2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q641Y2" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q641Y2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q641Y2" } ] } ] }, { "uniprot_ac": "Q66HF1", "gene_name": "Ndufs1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q66HF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q66HF1" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q66HF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q66HF1" } ] } ] }, { "uniprot_ac": "Q7L592", "gene_name": "NDUFAF7", "activity": [ { "ec_number": "2.1.1.320", "activity": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H(+) + N(omega),N(omega)'-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q7L592", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7L592" } ] }, { "ec_number": "2.1.1.320", "activity": "", "evidence": [ { "id": "Q7L592", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7L592" } ] } ] }, { "uniprot_ac": "Q8K3J1", "gene_name": "Ndufs8", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q8K3J1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K3J1" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q8K3J1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K3J1" } ] } ] }, { "uniprot_ac": "Q91VD9", "gene_name": "Ndufs1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q91VD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91VD9" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q91VD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91VD9" } ] } ] }, { "uniprot_ac": "Q91WD5", "gene_name": "Ndufs2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q91WD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WD5" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q91WD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WD5" } ] } ] }, { "uniprot_ac": "Q91YT0", "gene_name": "Ndufv1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q91YT0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91YT0" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q91YT0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91YT0" } ] } ] }, { "uniprot_ac": "Q94511", "gene_name": "ND-75", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q94511", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q94511" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q94511", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q94511" } ] } ] }, { "uniprot_ac": "Q96I99", "gene_name": "SUCLG2", "activity": [ { "ec_number": "6.2.1.4", "activity": "CoA + GTP + succinate = GDP + phosphate + succinyl-CoA.", "evidence": [ { "id": "Q96I99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I99" } ] }, { "ec_number": "6.2.1.4", "activity": "", "evidence": [ { "id": "Q96I99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I99" } ] } ] }, { "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": "Q9D6J6", "gene_name": "Ndufv2", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q9D6J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D6J6" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q9D6J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D6J6" } ] } ] }, { "uniprot_ac": "Q9DC70", "gene_name": "Ndufs7", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q9DC70", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DC70" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q9DC70", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DC70" } ] } ] }, { "uniprot_ac": "Q9DCT2", "gene_name": "Ndufs3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q9DCT2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DCT2" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q9DCT2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DCT2" } ] } ] }, { "uniprot_ac": "Q9H845", "gene_name": "ACAD9", "activity": [ { "ec_number": "1.3.8.-", "activity": "", "evidence": [ { "id": "Q9H845", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H845" } ] } ] }, { "uniprot_ac": "Q9NWU1", "gene_name": "OXSM", "activity": [ { "ec_number": "2.3.1.41", "activity": "a fatty acyl-[ACP] + H(+) + malonyl-[ACP] = a 3-oxoacyl-[ACP] + CO2 + holo-[ACP].", "evidence": [ { "id": "Q9NWU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NWU1" } ] }, { "ec_number": "2.3.1.41", "activity": "", "evidence": [ { "id": "Q9NWU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NWU1" } ] } ] }, { "uniprot_ac": "Q9UKU7", "gene_name": "ACAD8", "activity": [ { "ec_number": "1.3.8.5", "activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].", "evidence": [ { "id": "Q9UKU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKU7" } ] }, { "ec_number": "1.3.8.5", "activity": "", "evidence": [ { "id": "Q9UKU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKU7" } ] } ] }, { "uniprot_ac": "Q9VF27", "gene_name": "ND-23", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q9VF27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VF27" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q9VF27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VF27" } ] } ] }, { "uniprot_ac": "Q9VMI3", "gene_name": "ND-51", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q9VMI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VMI3" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "Q9VMI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VMI3" } ] } ] }, { "uniprot_ac": "Q9VZU4", "gene_name": "ND-30", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "Q9VZU4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VZU4" } ] }, { "ec_number": "7.1.1.2", "activity": "", 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