{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P28331","secondaryAccessions":["B4DIN9","B4DJA0","B4DPG1","B4DUC1","E7ENF3","Q53TR8","Q8N1C4","Q8TCC9"],"uniProtkbId":"NDUS1_HUMAN","entryAudit":{"firstPublicDate":"1992-12-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2006-03-07","entryVersion":246,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30879903"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31557978"}],"value":"7.1.1.2"}]},"alternativeNames":[{"fullName":{"value":"Complex I-75kD"},"shortNames":[{"value":"CI-75kD"}]}],"flag":"Precursor"},"genes":[{"geneName":{"value":"NDUFS1"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30879903"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31557978"}],"value":"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:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"a ubiquinone + NADH + 5 H(+)(in) = a ubiquinol + NAD(+) + 4 H(+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29091"},{"database":"Rhea","id":"RHEA-COMP:9565"},{"database":"Rhea","id":"RHEA-COMP:9566"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:16389"},{"database":"ChEBI","id":"CHEBI:17976"},{"database":"ChEBI","id":"CHEBI:57540"},{"database":"ChEBI","id":"CHEBI:57945"}],"ecNumber":"7.1.1.2","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30879903"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31557978"}]}},{"commentType":"COFACTOR","cofactors":[{"name":"[2Fe-2S] cluster","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q56223"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:190135"}}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q56223"}],"value":"Binds 1 [2Fe-2S] cluster per subunit."}]}},{"commentType":"COFACTOR","cofactors":[{"name":"[4Fe-4S] cluster","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q56223"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:49883"}}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q56223"}],"value":"Binds 2 [4Fe-4S] clusters per subunit."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15690"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VD9"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12611891"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30879903"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31557978"}],"value":"Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme (By similarity). Complex I associates with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978). Interacts with MDM2 (PubMed:30879903). Interacts with AKAP1 (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P28331","intActId":"EBI-1043922"},"interactantTwo":{"uniProtKBAccession":"Q99650","geneName":"OSMR","intActId":"EBI-2804080"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q0VDD7","geneName":"BRME1","intActId":"EBI-741210"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q96MW5","geneName":"COG8","intActId":"EBI-720875"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"P24310","geneName":"COX7A1","intActId":"EBI-25876196"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q14154","geneName":"DELE1","intActId":"EBI-2805660"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q9BPU6","geneName":"DPYSL5","intActId":"EBI-724653"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q49AJ0-4","geneName":"FAM135B","intActId":"EBI-25835236"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q99871","geneName":"HAUS7","intActId":"EBI-395719"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q6ZU52","geneName":"KIAA0408","intActId":"EBI-739493"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q13887","geneName":"KLF5","intActId":"EBI-2696013"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q92615","geneName":"LARP4B","intActId":"EBI-1052558"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q9BV99","geneName":"LRRC61","intActId":"EBI-2350424"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q8N6F8","geneName":"METTL27","intActId":"EBI-8487781"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q13562","geneName":"NEUROD1","intActId":"EBI-3908303"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"P22061-2","geneName":"PCMT1","intActId":"EBI-12386584"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-2","intActId":"EBI-6190702"},"interactantTwo":{"uniProtKBAccession":"Q8WTV1","geneName":"THAP3","intActId":"EBI-17438286"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-5","intActId":"EBI-25876328"},"interactantTwo":{"uniProtKBAccession":"Q96IK1-2","geneName":"BOD1","intActId":"EBI-18924329"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-5","intActId":"EBI-25876328"},"interactantTwo":{"uniProtKBAccession":"P42858","geneName":"HTT","intActId":"EBI-466029"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-5","intActId":"EBI-25876328"},"interactantTwo":{"uniProtKBAccession":"O60333-2","geneName":"KIF1B","intActId":"EBI-10975473"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P28331-5","intActId":"EBI-25876328"},"interactantTwo":{"uniProtKBAccession":"O76024","geneName":"WFS1","intActId":"EBI-720609"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"12611891"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"30879903"}],"value":"Mitochondrion inner membrane","id":"SL-0168"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15690"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15690"}],"value":"Matrix side","id":"SL-9913"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["P28331-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["P28331-2"],"sequenceIds":["VSP_042682"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["P28331-3"],"sequenceIds":["VSP_043728","VSP_043729"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["P28331-4"],"sequenceIds":["VSP_043727"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["P28331-5"],"sequenceIds":["VSP_045864"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Mitochondrial complex I deficiency, nuclear type 5","diseaseAccession":"DI-05404","acronym":"MC1DN5","description":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN5 transmission pattern is consistent with autosomal recessive inheritance.","diseaseCrossReference":{"database":"MIM","id":"618226"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11349233"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31557978"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the complex I 75 kDa subunit family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Transit peptide","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":23,"modifier":"EXACT"}},"description":"Mitochondrion","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"25944712"}]},{"type":"Chain","location":{"start":{"value":24,"modifier":"EXACT"},"end":{"value":727,"modifier":"EXACT"}},"description":"NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial","featureId":"PRO_0000019968"},{"type":"Domain","location":{"start":{"value":30,"modifier":"EXACT"},"end":{"value":108,"modifier":"EXACT"}},"description":"2Fe-2S ferredoxin-type","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00465"}]},{"type":"Domain","location":{"start":{"value":108,"modifier":"EXACT"},"end":{"value":147,"modifier":"EXACT"}},"description":"4Fe-4S His(Cys)3-ligated-type","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01184"}]},{"type":"Domain","location":{"start":{"value":245,"modifier":"EXACT"},"end":{"value":301,"modifier":"EXACT"}},"description":"4Fe-4S Mo/W bis-MGD-type","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01004"}]},{"type":"Binding site","location":{"start":{"value":64,"modifier":"EXACT"},"end":{"value":64,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:190135"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[2Fe-2S] cluster","id":"ChEBI:CHEBI:190135"}},{"type":"Binding site","location":{"start":{"value":75,"modifier":"EXACT"},"end":{"value":75,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:190135"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[2Fe-2S] cluster","id":"ChEBI:CHEBI:190135"}},{"type":"Binding site","location":{"start":{"value":78,"modifier":"EXACT"},"end":{"value":78,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:190135"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[2Fe-2S] cluster","id":"ChEBI:CHEBI:190135"}},{"type":"Binding site","location":{"start":{"value":92,"modifier":"EXACT"},"end":{"value":92,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:190135"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[2Fe-2S] cluster","id":"ChEBI:CHEBI:190135"}},{"type":"Binding site","location":{"start":{"value":124,"modifier":"EXACT"},"end":{"value":124,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01184"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"1"}},{"type":"Binding site","location":{"start":{"value":128,"modifier":"EXACT"},"end":{"value":128,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01184"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"1"}},{"type":"Binding site","location":{"start":{"value":131,"modifier":"EXACT"},"end":{"value":131,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01184"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"1"}},{"type":"Binding site","location":{"start":{"value":137,"modifier":"EXACT"},"end":{"value":137,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01184"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"1"}},{"type":"Binding site","location":{"start":{"value":176,"modifier":"EXACT"},"end":{"value":176,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"2"}},{"type":"Binding site","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"2"}},{"type":"Binding site","location":{"start":{"value":182,"modifier":"EXACT"},"end":{"value":182,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"2"}},{"type":"Binding site","location":{"start":{"value":226,"modifier":"EXACT"},"end":{"value":226,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883","label":"2"}},{"type":"Modified residue","location":{"start":{"value":84,"modifier":"EXACT"},"end":{"value":84,"modifier":"EXACT"}},"description":"N6-acetyllysine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VD9"}]},{"type":"Modified residue","location":{"start":{"value":467,"modifier":"EXACT"},"end":{"value":467,"modifier":"EXACT"}},"description":"N6-acetyllysine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VD9"}]},{"type":"Modified residue","location":{"start":{"value":499,"modifier":"EXACT"},"end":{"value":499,"modifier":"EXACT"}},"description":"N6-acetyllysine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VD9"}]},{"type":"Modified residue","location":{"start":{"value":709,"modifier":"EXACT"},"end":{"value":709,"modifier":"EXACT"}},"description":"N6-acetyllysine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VD9"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":57,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_043727","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":2,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_043728","alternativeSequence":{"originalSequence":"ML","alternativeSequences":["MW"]}},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_042682","alternativeSequence":{"originalSequence":"M","alternativeSequences":["MRIRGSSGTLSRINM"]}},{"type":"Alternative sequence","location":{"start":{"value":3,"modifier":"EXACT"},"end":{"value":113,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_043729","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":52,"modifier":"EXACT"},"end":{"value":87,"modifier":"EXACT"}},"description":"in isoform 5","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_045864","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":228,"modifier":"EXACT"},"end":{"value":228,"modifier":"EXACT"}},"description":"in MC1DN5; loss of catalytic activity","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31557978"}],"featureId":"VAR_084177","alternativeSequence":{"originalSequence":"V","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":241,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"in dbSNP:rs17856901","featureCrossReferences":[{"database":"dbSNP","id":"rs17856901"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"featureId":"VAR_025511","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":241,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"in MC1DN5; uncertain significance; dbSNP:rs199422225","featureCrossReferences":[{"database":"dbSNP","id":"rs199422225"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11349233"}],"featureId":"VAR_019532","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":252,"modifier":"EXACT"},"end":{"value":252,"modifier":"EXACT"}},"description":"in MC1DN5; also found in a patient with muscular hypotonia; loss of catalytic activity; dbSNP:rs199422224","featureCrossReferences":[{"database":"dbSNP","id":"rs199422224"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11349233"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31557978"}],"featureId":"VAR_019533","alternativeSequence":{"originalSequence":"D","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":253,"modifier":"EXACT"},"end":{"value":253,"modifier":"EXACT"}},"description":"in dbSNP:rs786205666","featureCrossReferences":[{"database":"dbSNP","id":"rs786205666"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22499341"}],"featureId":"VAR_069506","alternativeSequence":{"originalSequence":"V","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":649,"modifier":"EXACT"},"end":{"value":649,"modifier":"EXACT"}},"description":"in dbSNP:rs1044049","featureCrossReferences":[{"database":"dbSNP","id":"rs1044049"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1935949"}],"featureId":"VAR_018463","alternativeSequence":{"originalSequence":"V","alternativeSequences":["F"]}},{"type":"Sequence conflict","location":{"start":{"value":8,"modifier":"EXACT"},"end":{"value":8,"modifier":"EXACT"}},"description":"in Ref. 1; CAA43412","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":417,"modifier":"EXACT"},"end":{"value":417,"modifier":"EXACT"}},"description":"in Ref. 1; CAA43412","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Sequence conflict","location":{"start":{"value":572,"modifier":"EXACT"},"end":{"value":572,"modifier":"EXACT"}},"description":"in Ref. 2; BAG58551","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"H","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":691,"modifier":"EXACT"},"end":{"value":691,"modifier":"EXACT"}},"description":"in Ref. 1; CAA43412","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"I","alternativeSequences":["L"]}},{"type":"Beta strand","location":{"start":{"value":32,"modifier":"EXACT"},"end":{"value":43,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":49,"modifier":"EXACT"},"end":{"value":56,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":79,"modifier":"EXACT"},"end":{"value":82,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Turn","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":93,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":103,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":107,"modifier":"EXACT"},"end":{"value":120,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":128,"modifier":"EXACT"},"end":{"value":130,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Turn","location":{"start":{"value":134,"modifier":"EXACT"},"end":{"value":136,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":138,"modifier":"EXACT"},"end":{"value":145,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":156,"modifier":"EXACT"},"end":{"value":158,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":160,"modifier":"EXACT"},"end":{"value":162,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":181,"modifier":"EXACT"},"end":{"value":185,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":186,"modifier":"EXACT"},"end":{"value":190,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":200,"modifier":"EXACT"},"end":{"value":202,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Beta strand","location":{"start":{"value":209,"modifier":"EXACT"},"end":{"value":211,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":212,"modifier":"EXACT"},"end":{"value":214,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":217,"modifier":"EXACT"},"end":{"value":220,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":221,"modifier":"EXACT"},"end":{"value":225,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":227,"modifier":"EXACT"},"end":{"value":229,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":238,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":242,"modifier":"EXACT"},"end":{"value":244,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":246,"modifier":"EXACT"},"end":{"value":251,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":254,"modifier":"EXACT"},"end":{"value":257,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Beta strand","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":266,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":269,"modifier":"EXACT"},"end":{"value":275,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":279,"modifier":"EXACT"},"end":{"value":282,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":288,"modifier":"EXACT"},"end":{"value":291,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":293,"modifier":"EXACT"},"end":{"value":298,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":299,"modifier":"EXACT"},"end":{"value":301,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Beta strand","location":{"start":{"value":306,"modifier":"EXACT"},"end":{"value":308,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":314,"modifier":"EXACT"},"end":{"value":316,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":319,"modifier":"EXACT"},"end":{"value":330,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":335,"modifier":"EXACT"},"end":{"value":337,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":340,"modifier":"EXACT"},"end":{"value":342,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":348,"modifier":"EXACT"},"end":{"value":360,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":368,"modifier":"EXACT"},"end":{"value":370,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":375,"modifier":"EXACT"},"end":{"value":377,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Beta strand","location":{"start":{"value":380,"modifier":"EXACT"},"end":{"value":382,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":383,"modifier":"EXACT"},"end":{"value":385,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":391,"modifier":"EXACT"},"end":{"value":393,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":394,"modifier":"EXACT"},"end":{"value":396,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":398,"modifier":"EXACT"},"end":{"value":405,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":407,"modifier":"EXACT"},"end":{"value":409,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":412,"modifier":"EXACT"},"end":{"value":423,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":428,"modifier":"EXACT"},"end":{"value":434,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":448,"modifier":"EXACT"},"end":{"value":457,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":461,"modifier":"EXACT"},"end":{"value":468,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":469,"modifier":"EXACT"},"end":{"value":471,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":478,"modifier":"EXACT"},"end":{"value":481,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":482,"modifier":"EXACT"},"end":{"value":485,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":486,"modifier":"EXACT"},"end":{"value":503,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":513,"modifier":"EXACT"},"end":{"value":515,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":522,"modifier":"EXACT"},"end":{"value":527,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":531,"modifier":"EXACT"},"end":{"value":533,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":535,"modifier":"EXACT"},"end":{"value":537,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":545,"modifier":"EXACT"},"end":{"value":548,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":552,"modifier":"EXACT"},"end":{"value":554,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":566,"modifier":"EXACT"},"end":{"value":572,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9CWT"}]},{"type":"Helix","location":{"start":{"value":576,"modifier":"EXACT"},"end":{"value":579,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":581,"modifier":"EXACT"},"end":{"value":583,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":589,"modifier":"EXACT"},"end":{"value":591,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":595,"modifier":"EXACT"},"end":{"value":597,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":603,"modifier":"EXACT"},"end":{"value":605,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Beta strand","location":{"start":{"value":613,"modifier":"EXACT"},"end":{"value":615,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":619,"modifier":"EXACT"},"end":{"value":629,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":639,"modifier":"EXACT"},"end":{"value":647,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":652,"modifier":"EXACT"},"end":{"value":654,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":666,"modifier":"EXACT"},"end":{"value":673,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Turn","location":{"start":{"value":674,"modifier":"EXACT"},"end":{"value":676,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":691,"modifier":"EXACT"},"end":{"value":695,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":699,"modifier":"EXACT"},"end":{"value":703,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]},{"type":"Helix","location":{"start":{"value":705,"modifier":"EXACT"},"end":{"value":715,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5XTB"}]}],"keywords":[{"id":"KW-0001","category":"Ligand","name":"2Fe-2S"},{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0004","category":"Ligand","name":"4Fe-4S"},{"id":"KW-0007","category":"PTM","name":"Acetylation"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0903","category":"Technical term","name":"Direct protein sequencing"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0249","category":"Biological process","name":"Electron transport"},{"id":"KW-0408","category":"Ligand","name":"Iron"},{"id":"KW-0411","category":"Ligand","name":"Iron-sulfur"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0479","category":"Ligand","name":"Metal-binding"},{"id":"KW-0496","category":"Cellular component","name":"Mitochondrion"},{"id":"KW-0999","category":"Cellular component","name":"Mitochondrion inner membrane"},{"id":"KW-0520","category":"Ligand","name":"NAD"},{"id":"KW-0560","category":"Molecular function","name":"Oxidoreductase"},{"id":"KW-1274","category":"Disease","name":"Primary mitochondrial disease"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0679","category":"Biological process","name":"Respiratory chain"},{"id":"KW-0809","category":"Domain","name":"Transit peptide"},{"id":"KW-1278","category":"Molecular function","name":"Translocase"},{"id":"KW-0813","category":"Biological process","name":"Transport"},{"id":"KW-0830","category":"Ligand","name":"Ubiquinone"}],"references":[{"referenceNumber":1,"citation":{"id":"1935949","citationType":"journal article","authors":["Chow W.","Ragan I.","Robinson B.H."],"citationCrossReferences":[{"database":"PubMed","id":"1935949"},{"database":"DOI","id":"10.1111/j.1432-1033.1991.tb16313.x"}],"title":"Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase.","publicationDate":"1991","journal":"Eur. J. Biochem.","firstPage":"547","lastPage":"550","volume":"201"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","VARIANT PHE-649"]},{"referenceNumber":2,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5)"],"referenceComments":[{"value":"Hippocampus","type":"TISSUE"},{"value":"Kidney","type":"TISSUE"},{"value":"Substantia nigra","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.-M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.-P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"CI-56FT96O07V0QG","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":5,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)","VARIANT GLN-241"],"referenceComments":[{"value":"Brain","type":"TISSUE"},{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"CI-5JLPE8IQ42OFK","citationType":"submission","authors":["Lubec G.","Vishwanath V.","Chen W.-Q.","Sun Y."],"publicationDate":"DEC-2008","submissionDatabase":"UniProtKB"},"referencePositions":["PROTEIN SEQUENCE OF 185-200; 247-266; 277-289; 312-325; 361-382; 451-467; 471-499; 519-538; 544-557 AND 625-655","IDENTIFICATION BY MASS SPECTROMETRY"],"referenceComments":[{"value":"Brain","type":"TISSUE"},{"value":"Cajal-Retzius cell","type":"TISSUE"},{"value":"Fetal brain cortex","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"12611891","citationType":"journal article","authors":["Murray J.","Zhang B.","Taylor S.W.","Oglesbee D.","Fahy E.","Marusich M.F.","Ghosh S.S.","Capaldi R.A."],"citationCrossReferences":[{"database":"PubMed","id":"12611891"},{"database":"DOI","id":"10.1074/jbc.c300064200"}],"title":"The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.","publicationDate":"2003","journal":"J. Biol. Chem.","firstPage":"13619","lastPage":"13622","volume":"278"},"referencePositions":["IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX","IDENTIFICATION BY MASS SPECTROMETRY","SUBCELLULAR LOCATION"]},{"referenceNumber":8,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Buerckstuemmer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":9,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":10,"citation":{"id":"25944712","citationType":"journal article","authors":["Vaca Jacome A.S.","Rabilloud T.","Schaeffer-Reiss C.","Rompais M.","Ayoub D.","Lane L.","Bairoch A.","Van Dorsselaer A.","Carapito C."],"citationCrossReferences":[{"database":"PubMed","id":"25944712"},{"database":"DOI","id":"10.1002/pmic.201400617"}],"title":"N-terminome analysis of the human mitochondrial proteome.","publicationDate":"2015","journal":"Proteomics","firstPage":"2519","lastPage":"2524","volume":"15"},"referencePositions":["CLEAVAGE OF TRANSIT PEPTIDE [LARGE SCALE ANALYSIS] AFTER THR-23","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":11,"citation":{"id":"30879903","citationType":"journal article","authors":["Elkholi R.","Abraham-Enachescu I.","Trotta A.P.","Rubio-Patino C.","Mohammed J.N.","Luna-Vargas M.P.A.","Gelles J.D.","Kaminetsky J.R.","Serasinghe M.N.","Zou C.","Ali S.","McStay G.P.","Pfleger C.M.","Chipuk J.E."],"citationCrossReferences":[{"database":"PubMed","id":"30879903"},{"database":"DOI","id":"10.1016/j.molcel.2019.02.012"}],"title":"MDM2 Integrates Cellular Respiration and Apoptotic Signaling through NDUFS1 and the Mitochondrial Network.","publicationDate":"2019","journal":"Mol. Cell","firstPage":"452","lastPage":"465","volume":"74"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","SUBUNIT","SUBCELLULAR LOCATION","INTERACTION WITH MDM2"]},{"referenceNumber":12,"citation":{"id":"11349233","citationType":"journal article","authors":["Benit P.","Chretien D.","Kadhom N.","de Lonlay-Debeney P.","Cormier-Daire V.","Cabral A.","Peudenier S.","Rustin P.","Munnich A.","Roetig A."],"citationCrossReferences":[{"database":"PubMed","id":"11349233"},{"database":"DOI","id":"10.1086/320603"}],"title":"Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.","publicationDate":"2001","journal":"Am. J. Hum. Genet.","firstPage":"1344","lastPage":"1352","volume":"68"},"referencePositions":["INVOLVEMENT IN MC1DN5","VARIANTS MC1DN5 TRP-241 AND GLY-252"]},{"referenceNumber":13,"citation":{"id":"22499341","citationType":"journal article","authors":["Shamseldin H.E.","Alshammari M.","Al-Sheddi T.","Salih M.A.","Alkhalidi H.","Kentab A.","Repetto G.M.","Hashem M.","Alkuraya F.S."],"citationCrossReferences":[{"database":"PubMed","id":"22499341"},{"database":"DOI","id":"10.1136/jmedgenet-2012-100836"}],"title":"Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.","publicationDate":"2012","journal":"J. Med. Genet.","firstPage":"234","lastPage":"241","volume":"49"},"referencePositions":["VARIANT GLY-253"]},{"referenceNumber":14,"citation":{"id":"31557978","citationType":"journal article","authors":["Ni Y.","Hagras M.A.","Konstantopoulou V.","Mayr J.A.","Stuchebrukhov A.A.","Meierhofer D."],"citationCrossReferences":[{"database":"PubMed","id":"31557978"},{"database":"DOI","id":"10.3390/cells8101149"}],"title":"Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer.","publicationDate":"2019","journal":"Cells","firstPage":"0","lastPage":"0","volume":"8"},"referencePositions":["VARIANTS MC1DN5 ALA-228 AND GLY-252","CHARACTERIZATION OF VARIANTS MC1DN5 ALA-228 AND GLY-252","FUNCTION","SUBUNIT","CATALYTIC ACTIVITY"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"X61100","properties":[{"key":"ProteinId","value":"CAA43412.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK295705","properties":[{"key":"ProteinId","value":"BAG58551.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK295987","properties":[{"key":"ProteinId","value":"BAG58762.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK298320","properties":[{"key":"ProteinId","value":"BAG60573.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK300585","properties":[{"key":"ProteinId","value":"BAG62283.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC007383","properties":[{"key":"ProteinId","value":"AAY15061.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471063","properties":[{"key":"ProteinId","value":"EAW70379.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC022368","properties":[{"key":"ProteinId","value":"AAH22368.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC030833","properties":[{"key":"ProteinId","value":"AAH30833.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS2366.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-1"},{"database":"CCDS","id":"CCDS56162.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-4"},{"database":"CCDS","id":"CCDS56163.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-3"},{"database":"CCDS","id":"CCDS56164.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-5"},{"database":"CCDS","id":"CCDS56165.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-2"},{"database":"PIR","id":"S17854","properties":[{"key":"EntryName","value":"S17854"}]},{"database":"RefSeq","id":"NP_001186910.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001199981.2"}],"isoformId":"P28331-5"},{"database":"RefSeq","id":"NP_001186911.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001199982.2"}],"isoformId":"P28331-3"},{"database":"RefSeq","id":"NP_001186912.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001199983.2"}],"isoformId":"P28331-4"},{"database":"RefSeq","id":"NP_001186913.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001199984.2"}],"isoformId":"P28331-2"},{"database":"RefSeq","id":"NP_004997.4","properties":[{"key":"NucleotideSequenceId","value":"NM_005006.7"}],"isoformId":"P28331-1"},{"database":"PDB","id":"5XTB","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.40 A"},{"key":"Chains","value":"M=30-716"}]},{"database":"PDB","id":"5XTD","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.70 A"},{"key":"Chains","value":"M=30-716"}]},{"database":"PDB","id":"5XTH","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.90 A"},{"key":"Chains","value":"M=30-716"}]},{"database":"PDB","id":"5XTI","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"17.40 A"},{"key":"Chains","value":"BM/M=30-716"}]},{"database":"PDB","id":"9CWT","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.44 A"},{"key":"Chains","value":"M=1-727"}]},{"database":"PDB","id":"9I4I","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"2.63 A"},{"key":"Chains","value":"M=1-727"}]},{"database":"PDB","id":"9TI4","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"2.66 A"},{"key":"Chains","value":"M=30-716"}]},{"database":"PDBsum","id":"5XTB","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5XTD","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5XTH","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5XTI","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9CWT","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9I4I","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9TI4","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-45974","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-52619","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"110799","properties":[{"key":"Interactions","value":"409"}]},{"database":"ComplexPortal","id":"CPX-577","properties":[{"key":"EntryName","value":"Mitochondrial respiratory chain complex I"}]},{"database":"CORUM","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"P28331","properties":[{"key":"Number of interactors","value":"1581"}]},{"database":"IntAct","id":"P28331","properties":[{"key":"Interactions","value":"151"}]},{"database":"MINT","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-NDUFS1","properties":[{"key":"Evidences","value":"5 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000392709","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL6066925","properties":[{"key":"Description","value":"-"}]},{"database":"DrugBank","id":"DB00157","properties":[{"key":"GenericName","value":"NADH"}]},{"database":"DrugCentral","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"CarbonylDB","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"P28331","properties":[{"key":"glycosylation","value":"7 sites, 1 O-linked glycan (5 sites)"}]},{"database":"iPTMnet","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"MetOSite","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"SwissPalm","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"NDUFS1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"92090799","properties":[{"key":"Description","value":"-"}]},{"database":"REPRODUCTION-2DPAGE","id":"IPI00604664","properties":[{"key":"Description","value":"-"}]},{"database":"REPRODUCTION-2DPAGE","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"CPTAC","id":"CPTAC-413","properties":[{"key":"Description","value":"-"}]},{"database":"CPTAC","id":"CPTAC-414","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000392709","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"17145","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"54470","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-1"},{"database":"ProteomicsDB","id":"54471","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-2"},{"database":"ProteomicsDB","id":"54472","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-3"},{"database":"ProteomicsDB","id":"54473","properties":[{"key":"Description","value":"-"}],"isoformId":"P28331-4"},{"database":"Pumba","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"34175","properties":[{"key":"antibodies","value":"324 antibodies from 39 providers"}]},{"database":"DNASU","id":"4719","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000233190.11","properties":[{"key":"ProteinId","value":"ENSP00000233190.5"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000423725.5","properties":[{"key":"ProteinId","value":"ENSP00000397760.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-4"},{"database":"Ensembl","id":"ENST00000432169.5","properties":[{"key":"ProteinId","value":"ENSP00000409689.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-3"},{"database":"Ensembl","id":"ENST00000440274.5","properties":[{"key":"ProteinId","value":"ENSP00000409766.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-5"},{"database":"Ensembl","id":"ENST00000449699.5","properties":[{"key":"ProteinId","value":"ENSP00000399912.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000635748.2","properties":[{"key":"ProteinId","value":"ENSP00000489640.1"},{"key":"GeneId","value":"ENSG00000283447.3"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000636505.1","properties":[{"key":"ProteinId","value":"ENSP00000490898.1"},{"key":"GeneId","value":"ENSG00000283447.3"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000637298.1","properties":[{"key":"ProteinId","value":"ENSP00000490583.1"},{"key":"GeneId","value":"ENSG00000283447.3"}],"isoformId":"P28331-4"},{"database":"Ensembl","id":"ENST00000637631.1","properties":[{"key":"ProteinId","value":"ENSP00000489705.1"},{"key":"GeneId","value":"ENSG00000283447.3"}],"isoformId":"P28331-3"},{"database":"Ensembl","id":"ENST00000637990.1","properties":[{"key":"ProteinId","value":"ENSP00000490766.1"},{"key":"GeneId","value":"ENSG00000283447.3"}],"isoformId":"P28331-5"},{"database":"Ensembl","id":"ENST00000903708.1","properties":[{"key":"ProteinId","value":"ENSP00000573767.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000903709.1","properties":[{"key":"ProteinId","value":"ENSP00000573768.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000938122.1","properties":[{"key":"ProteinId","value":"ENSP00000608181.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000938124.1","properties":[{"key":"ProteinId","value":"ENSP00000608183.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000948901.1","properties":[{"key":"ProteinId","value":"ENSP00000618960.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"Ensembl","id":"ENST00000948907.1","properties":[{"key":"ProteinId","value":"ENSP00000618966.1"},{"key":"GeneId","value":"ENSG00000023228.16"}],"isoformId":"P28331-1"},{"database":"GeneID","id":"4719","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:4719","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000233190.11","properties":[{"key":"ProteinId","value":"ENSP00000233190.5"},{"key":"RefSeqNucleotideId","value":"NM_005006.7"},{"key":"RefSeqProteinId","value":"NP_004997.4"}]},{"database":"UCSC","id":"uc002vbe.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"P28331-1"},{"database":"AGR","id":"HGNC:7707","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA31518","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"4719","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"4719","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"NDUFS1","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"NDUFS1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:7707","properties":[{"key":"GeneName","value":"NDUFS1"}]},{"database":"HPA","id":"ENSG00000023228","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (heart muscle, skeletal muscle, tongue)"}]},{"database":"MalaCards","id":"NDUFS1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"157655","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"618226","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000023228","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"2609","properties":[{"key":"Disease","value":"Isolated complex I deficiency"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000023228","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG2282","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000153514","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_000422_11_2_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"QAMAYGV","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"10249365at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P28331","properties":[{"key":"Number of GO annotations","value":"2 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"BioCyc","id":"MetaCyc:HS00422-MONOMER","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-611105","properties":[{"key":"PathwayName","value":"Respiratory electron transport"}]},{"database":"Reactome","id":"R-HSA-6799198","properties":[{"key":"PathwayName","value":"Complex I biogenesis"}]},{"database":"Reactome","id":"R-HSA-9837999","properties":[{"key":"PathwayName","value":"Mitochondrial protein degradation"}]},{"database":"SignaLink","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"P28331","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000023228","properties":[{"key":"NominatedTarget","value":"Agora Nominated Target for Alzheimer's Disease"}]},{"database":"BioGRID-ORCS","id":"4719","properties":[{"key":"hits","value":"296 hits in 1171 CRISPR screens"}]},{"database":"CD-CODE","id":"FB4E32DD","properties":[{"key":"EntryName","value":"Presynaptic clusters and postsynaptic densities"}]},{"database":"ChiTaRS","id":"NDUFS1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"NDUFS1","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"4719","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P28331","properties":[{"key":"DevelopmentLevel","value":"Tclin"}]},{"database":"PRO","id":"PR:P28331","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"RNAct","id":"P28331","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000023228","properties":[{"key":"ExpressionPatterns","value":"Expressed in corpus callosum and 109 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"P28331","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005743","properties":[{"key":"GoTerm","value":"C:mitochondrial inner membrane"},{"key":"GoEvidenceType","value":"IDA:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28844695"}]},{"database":"GO","id":"GO:0005758","properties":[{"key":"GoTerm","value":"C:mitochondrial intermembrane space"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15186778"}]},{"database":"GO","id":"GO:0005759","properties":[{"key":"GoTerm","value":"C:mitochondrial matrix"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0005739","properties":[{"key":"GoTerm","value":"C:mitochondrion"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"30879903"}]},{"database":"GO","id":"GO:0045271","properties":[{"key":"GoTerm","value":"C:respiratory chain complex I"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12611891"}]},{"database":"GO","id":"GO:0009055","properties":[{"key":"GoTerm","value":"F:electron transfer activity"},{"key":"GoEvidenceType","value":"NAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"1935949"}]},{"database":"GO","id":"GO:0051536","properties":[{"key":"GoTerm","value":"F:iron-sulfur cluster binding"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0008137","properties":[{"key":"GoTerm","value":"F:NADH dehydrogenase (ubiquinone) activity"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"30879903"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"31557978"}]},{"database":"GO","id":"GO:0009060","properties":[{"key":"GoTerm","value":"P:aerobic respiration"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"30030361"}]},{"database":"GO","id":"GO:0045333","properties":[{"key":"GoTerm","value":"P:cellular respiration"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"15186778"}]},{"database":"GO","id":"GO:0006120","properties":[{"key":"GoTerm","value":"P:mitochondrial electron transport, NADH to ubiquinone"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"31557978"}]},{"database":"GO","id":"GO:0032981","properties":[{"key":"GoTerm","value":"P:mitochondrial respiratory chain complex I assembly"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"16478720"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"30879903"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"31557978"}]},{"database":"GO","id":"GO:0042776","properties":[{"key":"GoTerm","value":"P:proton motive force-driven mitochondrial ATP synthesis"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"30030361"}]},{"database":"CDD","id":"cd00207","properties":[{"key":"EntryName","value":"fer2"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd02773","properties":[{"key":"EntryName","value":"MopB_Res-Cmplx1_Nad11"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.10.20.740:FF:000001","properties":[{"key":"EntryName","value":"NADH-quinone oxidoreductase subunit G"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.30.200.210:FF:000002","properties":[{"key":"EntryName","value":"NADH-ubiquinone oxidoreductase 75 kDa subunit"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.30.70.20:FF:000002","properties":[{"key":"EntryName","value":"NADH-ubiquinone oxidoreductase 75 kDa subunit"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.740:FF:000002","properties":[{"key":"EntryName","value":"NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.10.20.740","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.30.200.210","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.30.70.20","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.740","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR036010","properties":[{"key":"EntryName","value":"2Fe-2S_ferredoxin-like_sf"}]},{"database":"InterPro","id":"IPR001041","properties":[{"key":"EntryName","value":"2Fe-2S_ferredoxin-type"}]},{"database":"InterPro","id":"IPR006656","properties":[{"key":"EntryName","value":"Mopterin_OxRdtase"}]},{"database":"InterPro","id":"IPR006963","properties":[{"key":"EntryName","value":"Mopterin_OxRdtase_4Fe-4S_dom"}]},{"database":"InterPro","id":"IPR000283","properties":[{"key":"EntryName","value":"NADH_UbQ_OxRdtase_75kDa_su_CS"}]},{"database":"InterPro","id":"IPR054351","properties":[{"key":"EntryName","value":"NADH_UbQ_OxRdtase_ferredoxin"}]},{"database":"InterPro","id":"IPR010228","properties":[{"key":"EntryName","value":"NADH_UbQ_OxRdtase_Gsu"}]},{"database":"InterPro","id":"IPR019574","properties":[{"key":"EntryName","value":"NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd"}]},{"database":"InterPro","id":"IPR015405","properties":[{"key":"EntryName","value":"NDUFS1-like_C"}]},{"database":"NCBIfam","id":"TIGR01973","properties":[{"key":"EntryName","value":"NuoG"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR43105:SF13","properties":[{"key":"EntryName","value":"NADH-UBIQUINONE OXIDOREDUCTASE 75 KDA SUBUNIT, MITOCHONDRIAL"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR43105","properties":[{"key":"EntryName","value":"RESPIRATORY NITRATE REDUCTASE"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13510","properties":[{"key":"EntryName","value":"Fer2_4"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF22151","properties":[{"key":"EntryName","value":"Fer4_NDSU1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF22117","properties":[{"key":"EntryName","value":"Fer4_Nqo3"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00384","properties":[{"key":"EntryName","value":"Molybdopterin"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF10588","properties":[{"key":"EntryName","value":"NADH-G_4Fe-4S_3"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF09326","properties":[{"key":"EntryName","value":"NADH_dhqG_C"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00929","properties":[{"key":"EntryName","value":"NADH-G_4Fe-4S_3"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF54292","properties":[{"key":"EntryName","value":"2Fe-2S ferredoxin-like"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF54862","properties":[{"key":"EntryName","value":"4Fe-4S ferredoxins"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53706","properties":[{"key":"EntryName","value":"Formate dehydrogenase/DMSO reductase, domains 1-3"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51085","properties":[{"key":"EntryName","value":"2FE2S_FER_2"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51839","properties":[{"key":"EntryName","value":"4FE4S_HC3"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51669","properties":[{"key":"EntryName","value":"4FE4S_MOW_BIS_MGD"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00641","properties":[{"key":"EntryName","value":"COMPLEX1_75K_1"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00642","properties":[{"key":"EntryName","value":"COMPLEX1_75K_2"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00643","properties":[{"key":"EntryName","value":"COMPLEX1_75K_3"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQIPRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQRLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNRVDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRKSWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTEGRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQAVEEPSIC","length":727,"molWeight":79468,"crc64":"9C35F4B8294771FB","md5":"C395FFAEB9298258B2C576D5E64684CB"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":1,"COFACTOR":2,"SUBUNIT":1,"INTERACTION":20,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":5,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Transit peptide":1,"Chain":1,"Domain":3,"Binding site":12,"Modified residue":4,"Alternative sequence":5,"Natural variant":6,"Sequence conflict":4,"Beta strand":30,"Helix":32,"Turn":10},"uniParcId":"UPI00000702AF"}}