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The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. Expression of this gene has been observed in embryos and olfactory epithelium; however, the exact function of this gene is not known. This isozyme is a selenoprotein in humans, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The orthologs of this gene in mouse and rat (and some other species) contain a cysteine (Cys) residue in place of the Sec residue, and their corresponding mRNAs lack SECIS element. [provided by RefSeq, Jul 2017]
GPX6 (Glutathione Peroxidase 6) is a Protein Coding gene. Diseases associated with GPX6 include Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency and Photokeratitis. Among its related pathways are Folate Metabolism and Detoxification of Reactive Oxygen Species. Gene Ontology (GO) annotations related to this gene include glutathione peroxidase activity. An important paralog of this gene is GPX3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004601 | peroxidase activity | IEA,IBA | 21873635 |
GO:0004602 | glutathione peroxidase activity | IEA,IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glutathione metabolism |
Glutathione metabolism
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2 | Detoxification of Reactive Oxygen Species | ||
3 | Folate Metabolism | ||
4 | Amyotrophic lateral sclerosis (ALS) | ||
5 | Linoleic acid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006979 | response to oxidative stress | IEA | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
GO:0098869 | cellular oxidant detoxification | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Oxidized glutathione | Approved, Experimental, Investigational | Pharma | Target | 0 | ||
Glutathione | Approved, Investigational | Nutra | Target, Target, cofactor | 0 | ||
Hydrogen peroxide | Approved, Vet_approved | Pharma | 115 | |||
Selenium | Approved, Investigational, Vet_approved | Pharma | 227 | |||
Water | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
15(S)-HETE |
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54845-95-3 |
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15(S)-HPETE |
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70981-96-3 |
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5(S)-Hydroperoxyeicosatetraenoic acid |
|
71774-08-8 |
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5-HETE |
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70608-72-9 |
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5-Hpete |
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74581-83-2 |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPX6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GPX6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GPX6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gpx6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gpx6 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | GPX3 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | gpx3 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781864 | Benign: not provided | 28,504,476(-) | T/C | MISSENSE_VARIANT | |
785161 | Benign: not provided | 28,510,835(-) | A/G | MISSENSE_VARIANT | |
rs34825130 | - | p.Tyr53His | |||
rs34955392 | - | p.Asp161Gly | |||
rs35062161 | - | p.Tyr72Asn |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3296n106 | CNV | deletion | 24896259 |
esv3576110 | CNV | gain | 25503493 |
nsv1074388 | CNV | deletion | 25765185 |
nsv601210 | CNV | gain | 21841781 |
nsv601211 | CNV | loss | 21841781 |
nsv830621 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
anemia, nonspherocytic hemolytic, due to g6pd deficiency |
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photokeratitis |
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