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MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I) is a Protein Coding gene. Diseases associated with MT-CO1 include Myoglobinuria, Recurrent and Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Effects of Nitric Oxide. Gene Ontology (GO) annotations related to this gene include iron ion binding and electron transfer activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004129 | contributes_to cytochrome-c oxidase activity | IMP | 12140182 |
GO:0005515 | protein binding | IPI | 12762840 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0020037 | heme binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005750 | mitochondrial respiratory chain complex III | IDA | 23168492 |
GO:0005751 | mitochondrial respiratory chain complex IV | IMP | 19393246 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
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2 | Parkinson disease | ||
3 | Metabolism |
.40
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4 | Gene Expression |
.48
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5 | Cardiac muscle contraction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006119 | oxidative phosphorylation | IEA | -- |
GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen | IBA,TAS | -- |
GO:0006979 | response to oxidative stress | IEA | -- |
GO:0007568 | aging | IEA | -- |
GO:0009060 | aerobic respiration | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Oxygen | Approved, Vet_approved | Pharma | Target, agonist, activator | 0 | ||
cholic acid | Approved | Pharma | Agonist, Full agonist, Target | 0 | ||
Copper | Approved, Investigational | Pharma | Enzyme, cofactor | 249 | ||
Cupric sulfate | Approved | Pharma | Enzyme, inducer | 0 | ||
Iron | Approved, Experimental | Pharma | 1560 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
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This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MT-CO1 31 |
|
OneToOne | |
COX1 30 |
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Mouse (Mus musculus) |
Mammalia | mt-Co1 17 31 |
|
OneToOne | |
COX1 30 |
|
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Platypus (Ornithorhynchus anatinus) |
Mammalia | MT-CO1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COI 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COX1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | COX1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | COX1 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MT-CO1 31 |
|
OneToOne | |
COX1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | COX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | COX1 30 |
|
||
Str.7294 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | mt-co1 31 |
|
OneToOne | |
COX1 30 |
|
||||
Dr.2007 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | mt:CoI 31 |
|
OneToOne | |
COX1 30 |
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||||
African malaria mosquito (Anopheles gambiae) |
Insecta | COX1 30 |
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||
Worm (Caenorhabditis elegans) |
Secernentea | MTCE.26 31 |
|
OneToOne | |
COX1 30 |
|
||||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | COX1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | COX1 30 |
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||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AMI002W 30 |
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||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | cox1 30 |
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||
Rice (Oryza sativa) |
Liliopsida | Os.23516 30 |
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||
Wheat (Triticum aestivum) |
Liliopsida | Ta.20641 30 |
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||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cox1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4242 30 |
|
SNP ID | Clinical significance and condition | Chr MT pos | Variation | AA Info | Type |
---|---|---|---|---|---|
692598 | Uncertain Significance: Leigh syndrome | 5,907(+) | T/C | MISSENSE_VARIANT | |
692599 | Benign: Leigh syndrome | 5,910(+) | G/A | MISSENSE_VARIANT | |
692600 | Benign: Leigh syndrome | 5,911(+) | C/T | MISSENSE_VARIANT | |
692601 | Benign: Leigh syndrome | 5,913(+) | G/A | MISSENSE_VARIANT | |
692602 | Uncertain Significance: Leigh syndrome | 5,961(+) | C/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myoglobinuria, recurrent |
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autosomal recessive pyridoxine-refractory sideroblastic anemia 2 |
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mitochondrial complex iv deficiency |
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deafness, nonsyndromic sensorineural, mitochondrial |
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genetic recurrent myoglobinuria |
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