{ "uniprot_canonical_ac": "A0A0G2K9V1-1", "uniprot_ac": "A0A0G2K9V1", "uniprot_id": "A0A0G2K9V1_RAT", "mass": { "chemical_mass": 14345.0, "monoisotopic_mass": 14345.0 }, "refseq": {}, "gene_names": [ { "name": "Ndufa1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1", "id": "A0A0G2K9V1" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A0G2K9V1" }, { "name": "Complex I-MWFE", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2K9V1" }, { "name": "NADH-ubiquinone oxidoreductase MWFE subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2K9V1" } ], "function": [ { "annotation": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.", "evidence": [ { "database": "UniProtKB", "id": "F7FC95", "url": "https://www.uniprot.org/uniprot/F7FC95#function" }, { "database": "UniProtKB", "id": "ARBA00003195", "url": "https://www.uniprot.org/uniprot/ARBA00003195#function" }, { "database": "UniProtKB", "id": "A0A0G2K9V1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1#function" } ] } ], "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:0112099", "recommended_name": { "id": "DOID:0112099", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112099", "name": "nuclear type mitochondrial complex I deficiency 12", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24." }, "synonyms": [ { "id": "DOID:0112099", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112099", "name": "MC1DN12", "description": "" }, { "id": "MONDO:0026720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026720", "name": "mitochondrial complex 1 deficiency, nuclear type 12", "description": "" }, { "id": "MONDO:0026720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026720", "name": "mitochondrial complex i deficiency, nuclear type 12, X-linked recessive", "description": "" }, { "id": "MONDO:0026720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026720", "name": "MC1DN12", "description": "" }, { "id": "MONDO:0026720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026720", "name": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12", "description": "" }, { "id": "MIM:301020", "resource": "MIM", "url": "https://www.omim.org/entry/301020", "name": "Mitochondrial complex I deficiency, nuclear type 12", "description": "Mitochondrial complex I deficiency, nuclear type 12" } ], "evidence": [ { "id": "0112099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112099" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K9V1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1" } ], "common_name": "Rat" } ], "gene": [ { "name": "Ndufa1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1", "locus": { "chromosome": "X", "start_pos": 116424223, "end_pos": 116428633, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000071176", "url": "https://www.ensembl.org/id/ENSRNOG00000071176" } ] } } ], "crossref": [ { "id": "IPR017384", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017384", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "WALMERD", "url": "https://omabrowser.org/oma/group/WALMERD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR17098", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17098", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR17098:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17098:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15879", "url": "http://pfam.xfam.org/family/PF15879", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "XP_017457871", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_017457871", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1560955", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1560955", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2K9V1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2K9V1-1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F7FC95", "url": "https://www.uniprot.org/uniprot/F7FC95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F7FC95-1", "url": "https://www.uniprot.org/uniprot/F7FC95-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLARPRTPVTFGPSQPPSLPTERYGAPPLSRAAGRAVKPPVTSEEPVTVTGWSVSNGEEMWFEILPGLAIMGVCLVIPGVSTAYIHKFTNGGKEKRVARVHYQWYLMERDRRISGVNRYYVSKGLENID", "length": 129, "header": "tr|A0A0G2K9V1-1|A0A0G2K9V1_RAT Isoform 1 of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 OS=Rattus norvegicus OX=10116 GN=Ndufa1 PE=3 SV=1 CANONICAL=A0A0G2K9V1-1" }, "isoforms": [ { "isoform_ac": "A0A0G2K9V1-1", "url": "", "sequence": { "sequence": "MLARPRTPVTFGPSQPPSLPTERYGAPPLSRAAGRAVKPPVTSEEPVTVTGWSVSNGEEMWFEILPGLAIMGVCLVIPGVSTAYIHKFTNGGKEKRVARVHYQWYLMERDRRISGVNRYYVSKGLENID", "length": 129, "header": "tr|A0A0G2K9V1-1|A0A0G2K9V1_RAT Isoform 1 of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 OS=Rattus norvegicus OX=10116 GN=Ndufa1 PE=3 SV=1 CANONICAL=A0A0G2K9V1-1" }, "locus": { "chromosome": "X", "start_pos": 116427966, "end_pos": 116424352, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000081761.3", "url": "https://www.ensembl.org/id/ENSRNOT00000081761.3" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000075141.2", "url": "https://www.ensembl.org/id/ENSRNOP00000075141.2" } ] } }, { "isoform_ac": "F7FC95-1", "url": "", "sequence": { "sequence": "MWFEILPGLAIMGVCLVIPGVSTAYIHKFTNGGKEKRVARVHYQWYLMERDRRISGVNRYYVSKVFGCLWGKGFGVRVIVPWLCYYLIALRK", "length": 92, "header": "tr|F7FC95-1|F7FC95_RAT Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 OS=Rattus norvegicus OX=10116 GN=Ndufa1 PE=1 SV=1 CANONICAL=A0A0G2K9V1-1" }, "locus": { "chromosome": "X", "start_pos": 116427789, "end_pos": 116425054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000051474.6", "url": "https://www.ensembl.org/id/ENSRNOT00000051474.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000047839.4", "url": "https://www.ensembl.org/id/ENSRNOP00000047839.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K9V1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K9V1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex I", "id": "GO:0005747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005747", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K9V1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K9V1", "url": "https://www.uniprot.org/uniprot/A0A0G2K9V1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }