{ "uniprot_canonical_ac": "P43024-1", "uniprot_ac": "P43024", "uniprot_id": "CX6A1_MOUSE", "mass": { "chemical_mass": 12352.0, "monoisotopic_mass": 12352.0 }, "refseq": { "ac": "NP_031774", "name": "cytochrome c oxidase subunit 6A1, mitochondrial", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774" }, "gene_names": [ { "name": "Cox6a1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P43024", "id": "P43024" }, { "name": "Cox6a1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774", "id": "NP_031774" }, { "name": "Cox6al", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P43024", "id": "P43024" }, { "name": "VIaL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774", "id": "NP_031774" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 6A1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P43024" }, { "name": "Cytochrome c oxidase polypeptide VIa-liver", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P43024" }, { "name": "cytochrome c oxidase polypeptide VIa-liver; subunit VIaL (liver-type); cytochrome c oxidase subunit VIa polypeptide 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774", "id": "NP_031774" }, { "name": "cytochrome c oxidase subunit 6A1, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774", "id": "NP_031774" } ], "function": [ { "annotation": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.", "evidence": [ { "database": "UniProtKB", "id": "P43024", "url": "https://www.uniprot.org/uniprot/P43024#function" }, { "database": "UniProtKB", "id": "P32799", "url": "https://www.uniprot.org/uniprot/P32799#function" } ] }, { "annotation": "We demonstrate a developmental isoform switch of COX6A and COX7A subunits in human and mouse skeletal muscle", "evidence": [ { "database": "RefSeq", "id": "NP_031774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774" }, { "database": "PubMed", "id": "25666558", "url": "https://glygen.org/publication/PubMed/25666558" } ] } ], "disease": [ { "disease_id": "DOID:0110203", "recommended_name": { "id": "DOID:0110203", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110203", "name": "Charcot-Marie-Tooth disease recessive intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24." }, "synonyms": [ { "id": "DOID:0110203", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110203", "name": "CMTRID", "description": "" }, { "id": "DOID:0110203", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110203", "name": "RI-CMT type D", "description": "" }, { "id": "DOID:0110203", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110203", "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "Charcot-Marie-Tooth disease recessive intermediate D", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "CMTRID", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "COX6A1 Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "Charcot-Marie-Tooth disease caused by mutation in COX6A1", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "Charcot-Marie-Tooth disease recessive intermediate type D", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "Charcot-Marie-Tooth disease, recessive Intermediate type D", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "RI-CMT type D", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0014467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014467", "name": "Charcot-Marie-Tooth disease, recessive intermediate D", "description": "" }, { "id": "MIM:616039", "resource": "MIM", "url": "https://www.omim.org/entry/616039", "name": "Charcot-Marie-Tooth disease, recessive intermediate D", "description": "Charcot-Marie-Tooth disease, recessive intermediate D" } ], "evidence": [ { "id": "0110203", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110203" } ] }, { "disease_id": "DOID:3762", "recommended_name": { "id": "DOID:3762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3762", "name": "cytochrome-c oxidase deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation." }, "synonyms": [ { "id": "DOID:3762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3762", "name": "MITOCHONDRIAL COMPLEX IV DEFICIENCY", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "cytochrome-c oxidase deficiency disease", "description": "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "cytochrome-C oxidase deficiency", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "cytochrome-c oxidase deficiency disease", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "isolated COX deficiency", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "isolated mitochondrial respiratory chain complex IV deficiency", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "mitochondrial complex IV deficiency", "description": "" 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deficiency", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "deficiency of mitochondrial respiratory chain complex4", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "isolated cytochrome C oxidase deficiency", "description": "" }, { "id": "MONDO:0009068", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009068", "name": "mitochondrial Complex 4 deficiency", "description": "" }, { "id": "MIM:220110", "resource": "MIM", "url": "https://www.omim.org/entry/220110", "name": "Mitochondrial complex IV deficiency", "description": "Mitochondrial complex IV deficiency" } ], "evidence": [ { "id": "3762", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3762" } ] }, { "disease_id": "DOID:890", "recommended_name": { "id": "DOID:890", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:890", "name": "mitochondrial encephalomyopathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "890", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:890" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43024", "url": "https://www.uniprot.org/uniprot/P43024" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Cox6a1", "url": "https://www.uniprot.org/uniprot/P43024", "locus": { "chromosome": "5", "start_pos": 115483701, "end_pos": 115487040, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000041697", "url": "https://www.ensembl.org/id/ENSMUSG00000041697" } ] } } ], "crossref": [ { "id": "ENSMUSG00000041697", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000041697", "database": 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"https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12861", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "103099", "url": "http://www.informatics.jax.org/marker/MGI:103099", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "P43024", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P43024", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KHQEEHG", "url": "https://omabrowser.org/oma/group/KHQEEHG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2912771at2759", "url": "http://www.orthodb.org/?query=2912771at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11504", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11504", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11504:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11504:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02046", "url": "http://pfam.xfam.org/family/PF02046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P43024", "url": "http://purl.obolibrary.org/obo/PR_P43024", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5628897", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-611105", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-9707564", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_031774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P43024", "url": "https://www.uniprot.org/uniprot/P43024", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P43024-1", "url": "https://www.uniprot.org/uniprot/P43024-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9DCW5", "url": "https://www.uniprot.org/uniprot/Q9DCW5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9DCW5-1", "url": "https://www.uniprot.org/uniprot/Q9DCW5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASAVLSASRVSRPLGRALPGLRRPMSSGAHGEEGSARMWKALTYFVALPGVGVSMLNVFLKSRHEEHERPPFVAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE", "length": 111, "header": "sp|P43024-1|CX6A1_MOUSE Isoform 1 of Cytochrome c oxidase subunit 6A1, mitochondrial OS=Mus musculus OX=10090 GN=Cox6a1 PE=1 SV=2 CANONICAL=P43024-1" }, "isoforms": [ { "isoform_ac": "P43024-1", "url": "", "sequence": { "sequence": "MASAVLSASRVSRPLGRALPGLRRPMSSGAHGEEGSARMWKALTYFVALPGVGVSMLNVFLKSRHEEHERPPFVAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE", "length": 111, "header": "sp|P43024-1|CX6A1_MOUSE Isoform 1 of Cytochrome c oxidase subunit 6A1, mitochondrial OS=Mus musculus OX=10090 GN=Cox6a1 PE=1 SV=2 CANONICAL=P43024-1" }, "locus": { "chromosome": "5", "start_pos": 115487006, "end_pos": 115483905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000040154", "url": "https://www.ensembl.org/id/ENSMUST00000040154" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000047661", "url": "https://www.ensembl.org/id/ENSMUSP00000047661" } ] } }, { "isoform_ac": "Q9DCW5-1", "url": "", "sequence": { "sequence": "MMASAVLSASRVSRPLGRALPGLRRPMSSGAHGEEGSARMWKALTYFVALPGVGVSMLNVFLKSRHEEHERPPFVAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE", "length": 112, "header": "tr|Q9DCW5-1|CX6A1_MOUSE Computationally mapped isoform of Cytochrome c oxidase subunit 6A1, mitochondrial OS=Mus musculus OX=10090 GN=Cox6a1 PE=1 SV=1 CANONICAL=P43024-1" }, "locus": { "chromosome": "5", "start_pos": 115487006, "end_pos": 115483905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000040154", "url": "https://www.ensembl.org/id/ENSMUST00000040154" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000047661", "url": "https://www.ensembl.org/id/ENSMUSP00000047661" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P43024", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P43024" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Global identification and characterization of both O-GlcNAcylation and phosphorylation at the murine synapse.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Trinidad JC, Barkan DT, Gulledge BF, Thalhammer A, Sali A, Schoepfer R, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "P43024", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P43024" } ], "reference": [ { "type": "PubMed", "id": "22645316", "url": "https://glygen.org/publication/PubMed/22645316" } ] }, { "title": "A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.", "journal": "Am. J. Hum. Genet.", "date": "2014", "authors": "Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K", "evidence": [ { "database": "UniProtKB", "id": "P43024", "url": "https://www.uniprot.org/uniprot/P43024" } ], "reference": [ { "type": "PubMed", "id": "25152455", "url": "https://glygen.org/publication/PubMed/25152455" } ] }, { "title": "Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.", "journal": "The international journal of biochemistry & cell biology", "date": "2015", "authors": "Boczonadi V, Giunta M, Lane M, Tulinius M, Schara U, Horvath R", "evidence": [ { "database": "RefSeq", "id": "NP_031774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031774" } ], "reference": [ { "type": "PubMed", "id": "25666558", "url": "https://glygen.org/publication/PubMed/25666558" } ] }, { "title": "Cloning, sequence analysis, and expression of a mouse cDNA encoding cytochrome c oxidase subunit VIa liver isoform.", "journal": "Biochim. Biophys. Acta", "date": "1995", "authors": "Grossman LI, Rosenthal NH, Akamatsu M, Erickson RP", "evidence": [ { "database": "UniProtKB", "id": "P43024", "url": "https://www.uniprot.org/uniprot/P43024" } ], "reference": [ { "type": "PubMed", "id": "7873616", "url": "https://glygen.org/publication/PubMed/7873616" } ] } ], "pathway": [ { "id": "mmu:12861", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12861", "resource": "KEGG Pathway" }, { "id": "R-MMU-5628897", "name": "TP53 Regulates Metabolic Genes", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5628897", "resource": "Reactome", "description": "TP53 Regulates Metabolic Genes" }, { "id": "R-MMU-611105", "name": "Respiratory electron transport", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-611105", "resource": "Reactome", "description": "Respiratory electron transport" }, { "id": "R-MMU-9707564", "name": "Cytoprotection by HMOX1", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-9707564", 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