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The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]
COX8A (Cytochrome C Oxidase Subunit 8A) is a Protein Coding gene. Diseases associated with COX8A include Mitochondrial Complex Iv Deficiency and Cardiomyopathy, Familial Hypertrophic, 4. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX8C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004129 | cytochrome-c oxidase activity | TAS,IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0045277 | respiratory chain complex IV | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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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:0006091 | generation of precursor metabolites and energy | TAS | 2543673 |
GO:0006119 | oxidative phosphorylation | IEA | -- |
GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen | TAS | -- |
GO:0022900 | electron transport chain | IEA | -- |
GO:1902600 | proton transmembrane transport | IEA | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COX8A 30 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | LOC783202 30 |
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||
COX8A 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | COX8A 30 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Cox8a 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Cox8a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
673121 | Benign: not provided | 63,974,702(+) | C/T | SYNONYMOUS_VARIANT | |
683606 | Benign: not provided | 63,975,081(+) | T/G | INTRON_VARIANT | |
683608 | Benign: not provided | 63,975,948(+) | A/G | INTRON_VARIANT | |
709505 | Benign: not provided | 63,974,791(+) | C/A | SYNONYMOUS_VARIANT | |
771443 | Benign: not provided | 63,974,747(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex iv deficiency |
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cardiomyopathy, familial hypertrophic, 4 |
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leigh syndrome |
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mitochondrial complex i deficiency, nuclear type 1 |
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