{ "uniprot_canonical_ac": "Q3E785-1", "uniprot_ac": "Q3E785", "uniprot_id": "SDHF1_YEAST", "mass": { "chemical_mass": 9352.0, "monoisotopic_mass": 9352.0 }, "refseq": { "ac": "NP_076888", "name": "Sdh6p", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076888" }, "gene_names": [ { "name": "SDH6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q3E785", "id": "Q3E785" }, { "name": "SDH6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076888", "id": "NP_076888" }, { "name": "smORF139", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q3E785", "id": "Q3E785" }, { "name": "smORF8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q3E785", "id": "Q3E785" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q3E785" }, { "name": "SDH assembly factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3E785" }, { "name": "SDHAF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3E785" }, { "name": "Sdh6p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076888", "id": "NP_076888" } ], "function": [ { "annotation": "Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDH2 of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. Acts together with SDHAF3 (SDH7).", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785#function" }, { "database": "PubMed", "id": "19465911", "url": "https://glygen.org/publication/PubMed/19465911" } ] } ], "disease": [ { "disease_id": "DOID:0060537", "recommended_name": { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060537", "name": "mitochondrial complex II deficiency", "description": "A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23." }, "synonyms": [ { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060537", "name": "isolated succinate-CoQ reductase deficiency", "description": "" }, { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060537", "name": "isolated succinate-coenzyme Q reductase deficiency", "description": "" }, { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060537", "name": "isolated succinate-ubiquinone reductase deficiency", "description": "" }, { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060537", "name": "isolated mitochondrial respiratory chain complex II deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial complex II deficiency, nuclear type 1", "description": "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated mitochondrial respiratory chain complex II deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated succinate-CoQ reductase deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated succinate-coenzyme Q reductase deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated succinate-ubiquinone reductase deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial complex II deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial complex II deficiency, nuclear type 1", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "complex 2 mitochondrial respiratory chain deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial complex 2 deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial respiratory chain complex II deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "succinate CoQ reductase deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "succinate dehydrogenase deficiency", "description": "" }, { "id": "MIM:252011", "resource": "MIM", "url": "https://www.omim.org/entry/252011", "name": "Mitochondrial complex II deficiency, nuclear type 1", "description": "Mitochondrial complex II deficiency, nuclear type 1" } ], "evidence": [ { "id": "0060537", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 61, "end_pos": 61, "sequence_org": "R", "sequence_mut": "P", "comment": "Abolishes the ability to complement a yeast strain carrying a deletion for this gene.", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" }, { "database": "PubMed", "id": "19465911", "url": "https://glygen.org/publication/PubMed/19465911" } ] }, { "start_pos": 63, "end_pos": 63, "sequence_org": "G", "sequence_mut": "R", "comment": "Abolishes the ability to complement a yeast strain carrying a deletion for this gene.", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" }, { "database": "PubMed", "id": "19465911", "url": "https://glygen.org/publication/PubMed/19465911" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "common_name": "Yeast" } ], "gene": [ { "name": "SDH6", "url": "https://www.uniprot.org/uniprot/Q3E785", "locus": {} } ], "crossref": [ { "id": "cd20268", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20268", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "851986", "url": "https://www.ncbi.nlm.nih.gov/gene/851986", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR008011", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008011", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045295", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045295", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "sce:YDR379C-A", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YDR379C-A", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "YSRPEVK", "url": "https://omabrowser.org/oma/group/YSRPEVK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "47257at2759", "url": "http://www.orthodb.org/?query=47257at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13675", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13675", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13675:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13675:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF05347", "url": "http://pfam.xfam.org/family/PF05347", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q3E785", "url": "http://purl.obolibrary.org/obo/PR_Q3E785", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_076888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076888", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "S000007605", "url": "https://www.yeastgenome.org/locus/S000007605", "database": "SGD", "categories": [ "Organism-specific" ] }, { "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3E785-1", "url": "https://www.uniprot.org/uniprot/Q3E785-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPKRLSGLQKEVLHLYRASIRTAHTKPKENQVNFVNYIHEEFGKYRNLPRKDFTTIEHLLRVGNKKIATFSHPELTNIH", "length": 79, "header": "sp|Q3E785-1|SDHF1_YEAST Isoform 1 of Succinate dehydrogenase assembly factor 1, mitochondrial OS=Saccharomyces cerevisiae S288C OX=559292 GN=SDH6 PE=1 SV=1 CANONICAL=Q3E785-1" }, "isoforms": [ { "isoform_ac": "Q3E785-1", "url": "", "sequence": { "sequence": "MPKRLSGLQKEVLHLYRASIRTAHTKPKENQVNFVNYIHEEFGKYRNLPRKDFTTIEHLLRVGNKKIATFSHPELTNIH", "length": 79, "header": "sp|Q3E785-1|SDHF1_YEAST Isoform 1 of Succinate dehydrogenase assembly factor 1, mitochondrial OS=Saccharomyces cerevisiae S288C OX=559292 GN=SDH6 PE=1 SV=1 CANONICAL=Q3E785-1" }, "locus": { "chromosome": "IV", "start_pos": 1233517, "end_pos": 1233281, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "YDR379C-A_mRNA", "url": "https://www.ensembl.org/id/YDR379C-A_mRNA" }, { "database": "Ensembl Peptide", "id": "YDR379C-A", "url": "https://www.ensembl.org/id/YDR379C-A" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Genomic exploration of the hemiascomycetous yeasts: 4. The genome of Saccharomyces cerevisiae revisited.", "journal": "FEBS Lett.", "date": "2000", "authors": "Blandin G., Tekaia F., Perrin A., Llorente B., Marck C., Dujon B., Gaillardin C., Neuveglise C., Ozier-Kalogeropoulos O., Potier S., Souciet J.-L., de Montigny J., Bolotin-Fukuhara M., Durrens P., Lepingle A., Talla E., Aigle M., Bon E., Casaregola S., Malpertuy A., Toffano-Nioche C., Wesolowski-Louvel M.", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "11152879", "url": "https://glygen.org/publication/PubMed/11152879" } ] }, { "title": "Systematic discovery of new genes in the Saccharomyces cerevisiae genome.", "journal": "Genome Res.", "date": "2003", "authors": "Zeng Q., Morales A.J., Cook R., Kessler M.M., Cottarel G., Hogan S.", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "12566404", "url": "https://glygen.org/publication/PubMed/12566404" } ] }, { "title": "Global analysis of protein localization in budding yeast.", "journal": "Nature", "date": "2003", "authors": "Weissman J.S., Carroll A.S., Howson R.W., Huh W.-K., O'Shea E.K., Falvo J.V., Gerke L.C.", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "14562095", "url": "https://glygen.org/publication/PubMed/14562095" } ] }, { "title": "Global analysis of protein expression in yeast.", "journal": "Nature", "date": "2003", "authors": "Dephoure N., Weissman J.S., Howson R.W., Huh W.-K., O'Shea E.K., Belle A., Bower K., Ghaemmaghami S.", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "14562106", "url": "https://glygen.org/publication/PubMed/14562106" } ] }, { "title": "SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.", "journal": "Nat. Genet.", "date": "2009", "authors": "Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "19465911", "url": "https://glygen.org/publication/PubMed/19465911" } ] }, { "title": "The reference genome sequence of Saccharomyces cerevisiae: Then and now.", "journal": "G3 (Bethesda)", "date": "2014", "authors": "Engel Stacia R, Dietrich Fred S, Fisk Dianna G, Binkley Gail, Balakrishnan Rama, Costanzo Maria C, Dwight Selina S, Hitz Benjamin C, Karra Kalpana, Nash Robert S, Weng Shuai, Wong Edith D, Lloyd Paul, Skrzypek Marek S, Miyasato Stuart R, Simison Matt, Cherry J Michael", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "24374639", "url": "https://glygen.org/publication/PubMed/24374639" } ] }, { "title": "The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenase.", "journal": "Cell Metab.", "date": "2014", "authors": "Na U, Yu W, Cox J, Bricker DK, Brockmann K, Rutter J, Thummel CS, Winge DR", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "24954417", "url": "https://glygen.org/publication/PubMed/24954417" } ] }, { "title": "The nucleotide sequence of Saccharomyces cerevisiae chromosome IV.", "journal": "Nature", "date": "1997", "authors": "Andrews S., Bahr A., Bloecker H., Brandt P., Connor R., Du Z., Fulton L., Gentles S., Hawkins J., Hillier L.W., Johnson D., Latreille P., Mardis E., Mewes H.-W., Miller N., Niblett D., Oliver K., Schaefer M., Scharfe M., Vaudin M., Wambutt R., Waterston R., Wedler H., Wilson R., Chen E., Le T., Verhasselt P., Bowman S., Hunt S., Wagner G., Chung E., Nakahara K., Botstein D., Brueckner M., Davis R.W., Lin D., Hankeln T., Schneider C., Schmidt E.R., Duncan M., Favello A., Kucaba T., Rifkin L., Trevaskis E., Wohldman P., Barrell B.G., Rieger M., Berno A., Schroeder M., Ding H., Oh C., Oefner P., Schwarz S., Woelfl S., Kleine K., Becker A., Prydz H., Cooper J., Arnold W., Eide L.G., Kraemer C., Lashkari D., Allen E., Jimenez A., Kuester H., Hoheisel J.D., Pauley A., Paulin L., Brown D., Jaeger W., Volckaert G., Hyman R.W., Andre B., Perez-Alonso M., Araujo R., Komp C., Lew H., Namath A., Roberts D., Paricio N., Boskovic J., Louis E.J., Mulligan J.T., Delaveau T., Greco T., Johnston L., Nhan M., Jones L., Odell C., Menezes S., Johnston M., Pohl T.M., Harris D.E., Schramm S., McDonald S., Salom D., Bargues M., Cherry J.M., Ballesta J.P.G., Churcher C.M., Dedman K., Dietrich F.S., Dujon B., Goffeau A., Hamlin N., Hani J., Jacq C., Mueller-Auer S., Perea J., Perez-Ortin J.E., Rajandream M.A., Remacha M.A., Revuelta J.L., Vissers S., Walsh S.V., Zollner A., del Rey F., Jonniaux J.-L., Purnelle B., Saiz J.E., Urrestarazu L.A., Voet M., Wilcox L., Albermann K., Alt-Moerbe J., Aviles E., Baron L., Biteau N., Blugeon C., Brinkman R., Buitrago M.J., Carpenter J., Coster F., Garcia-Cantalejo J.M., Gattung S., Gomez-Peris A., Granotier C., Hallsworth K., Hanemann V., Heumann K., Hunicke-Smith S., Jier M., Kirsten J., Laamanen P., Langston Y., Legros Y., Moeller-Rieker S., Monnet A., Moro M., Mosedale D., Murphy L.D., Nussbaumer B., Peluso D., Petel F.X., Rasmussen S.W., Richards C., Riles L., Saluz H.P., Saren A.-M., Scholler P., Shogren T., Shore L., Shroff N., Soler-Mira A., Taich A., Vignati D., Wedler E., Winant A., Yelton M.A., Zaccaria P.", "evidence": [ { "database": "UniProtKB", "id": "Q3E785", "url": "https://www.uniprot.org/uniprot/Q3E785" } ], "reference": [ { "type": "PubMed", "id": "9169867", "url": "https://glygen.org/publication/PubMed/9169867" } ] } ], "pathway": [ { "id": 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