{ "uniprot_canonical_ac": "A2AMZ4-1", "ptm_annotation": [], "sequence": { "header": "sp|A2AMZ4-1|NDUF8_MOUSE Isoform 1 of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 OS=Mus musculus OX=10090 GN=Ndufaf8 PE=1 SV=1 CANONICAL=A2AMZ4-1", "length": 74, "sequence": "MSVNGAVWGRVRSRFRAFPEHLAACGAEASAYGKCVQASTAPGGRLSKDLCVREFEALRSCFAAAAKKTMMGGS" }, "uniprot_id": "NDUF8_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AMZ4", "id": "A2AMZ4", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [], "uniprot_ac": "A2AMZ4", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AMZ4#A0A087WQY7-1", "isoform_ac": "A0A087WQY7-1", "locus": { "end_pos": 120098982, "strand": "-", "start_pos": 120100232, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000185558", "id": "ENSMUST00000185558", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000140397", "id": "ENSMUSP00000140397", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A087WQY7-1|NDUF8_MOUSE Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 OS=Mus musculus OX=10090 GN=Ndufaf8 PE=1 SV=1 CANONICAL=A2AMZ4-1", "length": 86, "sequence": "MSVNGAVWGRVRSRFRAFPEHLAACGAEASAYGKCVQASTAPGGRLSKDLCVREFEALRSCFAAAVGQEDHDGRLLGRAVGVEALS" } }, { "url": "https://www.uniprot.org/uniprot/A2AMZ4#A2AMZ4-1", "isoform_ac": "A2AMZ4-1", "locus": { "end_pos": 120098982, "strand": "-", "start_pos": 120100200, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000106223", "id": "ENSMUST00000106223", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000101830", "id": "ENSMUSP00000101830", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AMZ4-1|NDUF8_MOUSE Isoform 1 of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 OS=Mus musculus OX=10090 GN=Ndufaf8 PE=1 SV=1 CANONICAL=A2AMZ4-1", "length": 74, "sequence": "MSVNGAVWGRVRSRFRAFPEHLAACGAEASAYGKCVQASTAPGGRLSKDLCVREFEALRSCFAAAAKKTMMGGS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:208501", "resource": "KEGG Pathway", "id": "mmu:208501", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2AMZ4#function", "annotation": "Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1). Required to stabilize NDUFAF5.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AMZ4#function", "id": "A2AMZ4", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A1L188-1", "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8", "sequence": { "length": 74, "sequence": "MSANGAVWGRVRSRLRAFPERLAACGAEAAAYGRCVQASTAPGGRLSKDFCAREFEALRSCFAAAAKKTLEGGC" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AMZ4/", "id": "A2AMZ4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/83602", "id": "83602", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "NDUFAF8", "tax_id": 9606 }, { "uniprot_canonical_ac": "D3ZUI9-1", "protein_name": "NADH:ubiquinone oxidoreductase complex assembly factor 8", "sequence": { "length": 74, "sequence": "MSVNGAVWGRVRSRLRAFPEHLAACGAEASAYGKCVQASTAPGGRLSKDLCVREFEALRSCFAAAAKKTMMGGS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AMZ4/", "id": "A2AMZ4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/83602", "id": "83602", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Ndufaf8", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103712.1", "ac": "NP_001103712.1", "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "pmid": "18614015", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AMZ4", "id": "A2AMZ4", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AMZ4", "id": "A2AMZ4", "database": "UniProtKB" } ], "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AMZ4", "type": "synonym", "resource": "RefSeq", "name": "1810043H04Rik" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AMZ4", "type": "synonym", "resource": "RefSeq", "name": "Ndufaf8" }, { "url": "https://www.uniprot.org/uniprot/A2AMZ4", "type": "recommended", "resource": "UniProtKB", "name": "Ndufaf8" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000078572", "id": "ENSMUSG00000078572", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/208501", "id": "208501", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR034595", "id": "IPR034595", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:208501", "id": "mmu:208501", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:1913676", "id": "1913676", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/LCAQEFE/", "id": "LCAQEFE", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1633553at2759", "id": "1633553at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR34561", "id": "PTHR34561", "database": "PANTHER" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2AMZ4", "id": "PR_A2AMZ4", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103712.1", "id": "NP_001103712.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AMZ4", "id": "A2AMZ4", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "DOID:0060536", "url": "http://disease-ontology.org/term/DOID:0060536", "resource": "Disease Ontology", "name": "isolated mitochondrial respiratory chain complex I deficiency", "description": "" }, { "id": "DOID:0060536", "url": "http://disease-ontology.org/term/DOID:0060536", "resource": "Disease Ontology", "name": "isolated NADH-CoQ reductase deficiency", "description": "" }, { "id": "DOID:0060536", "url": "http://disease-ontology.org/term/DOID:0060536", "resource": "Disease Ontology", "name": "isolated NADH-coenzyme Q reductase deficiency", "description": "" }, { "id": "DOID:0060536", "url": "http://disease-ontology.org/term/DOID:0060536", "resource": "Disease Ontology", "name": "isolated NADH-ubiquinone reductase deficiency", "description": "" } ], "recommended_name": { "id": "DOID:0060536", "url": "http://disease-ontology.org/term/DOID:0060536", "resource": "Disease Ontology", "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." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060536#disease-associations", "id": "0060536", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 7785.0, "chemical_mass": 7785.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AMZ4", "name": "Ndufaf8", "locus": { "end_pos": 120100705, "strand": "+", "start_pos": 120098928, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000078572", "id": "ENSMUSG00000078572", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AMZ4", "type": "synonym", "resource": "RefSeq", "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 8" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AMZ4", "type": "synonym", "resource": "RefSeq", "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8" }, { "url": "https://www.uniprot.org/uniprot/A2AMZ4#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8" } ] }