{ "uniprot_canonical_ac": "A2AIL4-1", "uniprot_ac": "A2AIL4", "uniprot_id": "NDUF6_MOUSE", "mass": { "chemical_mass": 38362.0, "monoisotopic_mass": 38362.0 }, "refseq": { "ac": "NP_001078962", "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078962" }, "gene_names": [ { "name": "Ndufaf6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2AIL4", "id": "A2AIL4" }, { "name": "2310030N02Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078962", "id": "NP_001078962" }, { "name": "Ndufaf6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078962", "id": "NP_001078962" } ], "protein_names": [ { "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2AIL4#names_and_taxonomy", "id": "A2AIL4" }, { "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078962", "id": "NP_001078962" }, { "name": "UPF0551 protein C8orf38 homolog, mitochondrial; NADH dehydrogenase (ubiquinone) complex I, assembly factor 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078962", "id": "NP_001078962" } ], "function": [ { "annotation": "Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1.", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4#function" }, { "database": "PubMed", "id": "Q330K2", "url": "https://glygen.org/publication/PubMed/Q330K2" } ] } ], "disease": [ { "disease_id": "DOID:0060536", "recommended_name": { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded." }, "synonyms": [ { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060536", "name": "isolated mitochondrial respiratory chain complex I deficiency", "description": "" }, { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060536", "name": "isolated NADH-CoQ reductase deficiency", "description": "" }, { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060536", "name": "isolated NADH-coenzyme Q reductase deficiency", "description": "" }, { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060536", "name": "isolated NADH-ubiquinone reductase deficiency", "description": "" } ], "evidence": [ { "id": "0060536", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "disease_id": "DOID:0080761", "recommended_name": { "id": "DOID:0080761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080761", "name": "Fanconi renotubular syndrome 5", "description": "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22." }, "synonyms": [ { "id": "DOID:0080761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080761", "name": "Acadian-variant Fanconi syndrome", "description": "" }, { "id": "MIM:618913", "resource": "MIM", "url": "https://www.omim.org/entry/618913", "name": "Fanconi renotubular syndrome 5", "description": "Fanconi renotubular syndrome 5" } ], "evidence": [ { "id": "0080761", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080761" } ] }, { "disease_id": "DOID:3652", "recommended_name": { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "Leigh disease", "description": "A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity." }, "synonyms": [ { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "Infantile necrotizing encephalomyelopathy", "description": "" }, { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "Leigh syndrome", "description": "" }, { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "juvenile subacute necrotizing encephalomyelopathy", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 2 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "necrotizing encephalopathy, infantile Subacute, of Leigh", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 3 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 4 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 5 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "LS", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome; LS", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 1 deficiency", "description": "" }, { "id": "MIM:256000", "resource": "MIM", "url": "https://www.omim.org/entry/256000", "name": "Leigh syndrome", "description": "Leigh syndrome" } ], "evidence": [ { "id": "3652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ] }, { "disease_id": "DOID:8466", "recommended_name": { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina." }, "synonyms": [ { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "degeneration of retina", "description": "" } ], "evidence": [ { "id": "8466", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Ndufaf6", "url": "https://www.uniprot.org/uniprot/A2AIL4", "locus": { "chromosome": "4", "start_pos": 11076205, "end_pos": 11051045, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000050323", "url": "https://www.ensembl.org/id/ENSMUSG00000050323" } ] } } ], "crossref": [ { "id": "ENSMUSG00000050323", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000050323", "database": "Bgee" }, { "id": "76947", "url": "https://www.ncbi.nlm.nih.gov/gene/76947", "database": "GeneID" }, { "id": "IPR002060", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002060", "database": "InterPro" }, { "id": "IPR008949", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008949", "database": "InterPro" }, { "id": "mmu:76947", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:76947", "database": "KEGG Pathway" }, { "id": "1924197", "url": "http://www.informatics.jax.org/marker/MGI:1924197", "database": "MGI" }, { "id": "RLPWKAY", "url": "https://omabrowser.org/oma/group/RLPWKAY/", "database": "OMA" }, { "id": "616989at2759", "url": "http://www.orthodb.org/?query=616989at2759", "database": "OrthoDB" }, { "id": "PF00494", "url": "http://pfam.xfam.org/family/PF00494", "database": "Pfam" }, { "id": "PR_A2AIL4", "url": "http://purl.obolibrary.org/obo/PR_A2AIL4", "database": "PRO" }, { "id": "R-MMU-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6799198", "database": "Reactome" }, { "id": "NP_001078962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078962", "database": "RefSeq" }, { "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4", "database": "UniProtKB" }, { "id": "A2AIL4-1", "url": "https://www.uniprot.org/uniprot/A2AIL4-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MATSMLGSVRGPRPFGLANLFHRQPPRDAWERVRRLPGPSAVRRSVAAASGPGIPGSHLYCLELLRKRDYESYLCSLLFPAECQRSASALRAFNVELAQVKDSVSEKTIGLMRMQFWKKAVEDMYCDNPPHQPVAIELWKAVKKHNLTKRWLMRIIDEREKNLDDKAYRSMQELENYAENTQGSLLYLTLEVLGVKDLHADHAASHIGKAQGIVTCLRATPYHSSRRQVFLPMDVCVQHGVSQEDFLRRNQDKNVRDVVYDIASQAHLHLKHARSFHRSVPAEAFPAFLQTVSLEDYLKKIQRVDFDIFHPSLQQKNMLLPLSLYIQSWRKRY", "length": 333, "header": "sp|A2AIL4-1|NDUF6_MOUSE Isoform 1 of NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 OS=Mus musculus OX=10090 GN=Ndufaf6 PE=1 SV=1 CANONICAL=A2AIL4-1" }, "isoforms": [ { "isoform_ac": "A2AIL4-1", "url": "https://www.uniprot.org/uniprot/A2AIL4#A2AIL4-1", "sequence": { "sequence": "MATSMLGSVRGPRPFGLANLFHRQPPRDAWERVRRLPGPSAVRRSVAAASGPGIPGSHLYCLELLRKRDYESYLCSLLFPAECQRSASALRAFNVELAQVKDSVSEKTIGLMRMQFWKKAVEDMYCDNPPHQPVAIELWKAVKKHNLTKRWLMRIIDEREKNLDDKAYRSMQELENYAENTQGSLLYLTLEVLGVKDLHADHAASHIGKAQGIVTCLRATPYHSSRRQVFLPMDVCVQHGVSQEDFLRRNQDKNVRDVVYDIASQAHLHLKHARSFHRSVPAEAFPAFLQTVSLEDYLKKIQRVDFDIFHPSLQQKNMLLPLSLYIQSWRKRY", "length": 333, "header": "sp|A2AIL4-1|NDUF6_MOUSE Isoform 1 of NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 OS=Mus musculus OX=10090 GN=Ndufaf6 PE=1 SV=1 CANONICAL=A2AIL4-1" }, "locus": { "chromosome": "4", "start_pos": 11076176, "end_pos": 11051100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000058183", "url": "https://www.ensembl.org/id/ENSMUST00000058183" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000062039", "url": "https://www.ensembl.org/id/ENSMUSP00000062039" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "A mitochondrial protein compendium elucidates complex I disease biology.", "journal": "Cell", "date": "2008", "authors": "Calvo S.E., Mootha V.K., Pagliarini D.J., Thorburn D.R., Vidal M., Carr S.A., Hill D.E., Chang B., Boneh A., Ong S.E., Sheth S.A., Chen W.K., Evans J.G., Sugiana C., Vafai S.B., Walford G.A.", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "reference": [ { "type": "PubMed", "id": "18614015", "url": "https://glygen.org/publication/PubMed/18614015" } ] } ], "pathway": [ { "id": "mmu:76947", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:76947", "resource": "KEGG Pathway" }, { "id": "R-MMU-6799198", "name": "Complex I biogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6799198", "resource": "Reactome", "description": "Complex I biogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZN43-1", "protein_name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6", "gene_name": "Ndufaf6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MATSMLGSVPGPRPFGLAGLFRRRPPRDPWERVRRLPRLSAVRRSVAAASGPGIPDSHLYCLELLRKRDYESYLCSLLFPAECQRSASALRAFNVELAQVKDSVSEKTIGLMRMQFWRKAVEDMFCDNPPHQPVAMELWKAVKRHNLTKRWLLRIIDEREKNLDDKAYRSIRELETYAENTQSSLLYLTLEVLGVKDVHADHAASHIGKAQGIVTCLRATPYHSSRRQVFLPMDVCVQHGVSQEDFLRRNQDKNVRDVVYDIASQAHLHLKHARSFHSRVPAEAFPAFLQTVSLEDYLKKIQRVDFDIFHPSLQQKNTLLPLSLYIQSWRKRY", "length": 333 }, "evidence": [ { "id": "43831", "url": "http://www.informatics.jax.org/homology/43831", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q330K2-1", "protein_name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6", "gene_name": "NDUFAF6", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY", "length": 333 }, "evidence": [ { "id": "43831", "url": "http://www.informatics.jax.org/homology/43831", "database": "MGI" }, { "id": "A2AIL4", "url": "https://omabrowser.org/oma/group/A2AIL4/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "pmid": "18614015" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "biosynthetic process", "id": "GO:0009058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009058", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "A2AIL4", "url": "https://www.uniprot.org/uniprot/A2AIL4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 146, "end_pos": 148, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ] }