AlphaFold predicted structure
MT-CO1 · P00395
Mean pLDDT
95.8/ 100
Very high
513 residues
Confidence breakdown
- Very high(≥ 90)92%
- Confident(70–90)7%
- Low(50–70)1%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MT-CO1
Chr mitochondriamitochondrially encoded cytochrome c oxidase I
- Aliases:
- COX1, COI
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Acute rhabdomyolysis
MITOCHONDRIALLikely inborn error of metabolism
MITOCHONDRIALMitochondrial disorders
MITOCHONDRIALRhabdomyolysis and metabolic muscle disorders
MITOCHONDRIALUndiagnosed metabolic disorders
MITOCHONDRIALMonogenic hearing loss
MITOCHONDRIALAlbinism or congenital nystagmus
MITOCHONDRIALInfantile nystagmus
MITOCHONDRIAL
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Disease associations (Open Targets)
mitochondrial disease
0.71Leber hereditary optic neuropathy
0.70mitochondrial non-syndromic sensorineural hearing loss
0.68Isolated cytochrome C oxidase deficiency
0.67myelodysplastic syndrome with ring sideroblasts
0.61myoglobinuria, recurrent
0.61hereditary recurrent myoglobinuria
0.60MELAS syndrome
0.57Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
0.56MERRF syndrome
0.51
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cytochrome c oxidase subunit 1
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 using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix
Diseases associated with MT-CO1
Curated MONDO disease pages that list MT-CO1 among their top associated genes.