Homo sapiens Gene: COQ6 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-11764.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | COQ6 | ||||||||||||||||||
Gene Name | coenzyme Q6 homolog, monooxygenase (S. cerevisiae) | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000119723 | ||||||||||||||||||
Encoded Proteins |
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 14:73949926-73963670 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q24.3 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Ubiquinol biosynthesis pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
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KEGG |
Ubiquinone and other terpenoid-quinone biosynthesis pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.131555 Hs.669116 | ||||||||||||||||||
RefSeq | NM_182476 NM_182480 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS9823 CCDS9824 | ||||||||||||||||||
HPRD | 16742 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||