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Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]
COX17 (Cytochrome C Oxidase Copper Chaperone COX17) is a Protein Coding gene. Among its related pathways are Mitochondrial protein import and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include copper ion binding and copper chaperone activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005507 | copper ion binding | TAS | 9050918 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0016531 | copper chaperone activity | IMP,ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:1903136 | cuprous ion binding | IDA | 18093982 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 19393246 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005758 | mitochondrial intermembrane space | IDA | 19393246 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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|
2 | Metabolism | ||
3 | AMPK Enzyme Complex Pathway |
AMPK Enzyme Complex Pathway
-
|
|
4 | Metabolism of proteins | ||
5 | Mitochondrial protein import |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006091 | generation of precursor metabolites and energy | TAS | 9050918 |
GO:0006825 | copper ion transport | TAS,IEA | -- |
GO:0007420 | brain development | IEA | -- |
GO:0007507 | heart development | IEA | -- |
GO:0008284 | positive regulation of cell proliferation | IMP | 19393246 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Carrier, binder | 227 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||
SP3: | - | ||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
oppossum (Monodelphis domestica) |
Mammalia | COX17 33 |
|
OneToOne | |
chimpanzee (Pan troglodytes) |
Mammalia | COX17 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Gm21987 33 |
|
OneToMany | |
Cox17 17 33 32 |
|
||||
dog (Canis familiaris) |
Mammalia | COX17 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Cox17 32 |
|
||
cow (Bos Taurus) |
Mammalia | COX17 33 32 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | COX17 33 32 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | cox17 32 |
|
||
Str.3403 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | cox17 33 32 |
|
OneToOne | |
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4443 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG9065 33 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | cox-17 33 |
|
OneToOne |
SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000189096 | -- | 119,674,172(-) | C/T | intron_variant | |
rs1000444989 | -- | 119,674,061(-) | C/T | intron_variant | |
rs1001309176 | -- | 119,673,480(-) | A/C | intron_variant | |
rs1001404745 | -- | 119,670,739(-) | T/C | intron_variant | |
rs1002329006 | -- | 119,673,313(-) | C/T | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3568977 | CNV | loss | 25503493 |
nsv1014394 | CNV | loss | 25217958 |
nsv460834 | CNV | gain | 19166990 |
nsv591390 | CNV | gain | 21841781 |
No disorders were found for COX17 Gene.