Homo sapiens Gene: COQ6
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)
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:73949926-73963670
Strand Forward strand
Band q24.3
Transcripts
ENST00000238709 ENSP00000238709
ENST00000334571 ENSP00000333946
ENST00000394026 ENSP00000377594
ENST00000554341 ENSP00000450736
ENST00000553462
ENST00000556300
ENST00000554153 ENSP00000451685
ENST00000557584 ENSP00000450511
ENST00000554920 ENSP00000451562
ENST00000554217
ENST00000553922
ENST00000554193
ENST00000555552
ENST00000557205
ENST00000555196 ENSP00000451301
ENST00000554320 ENSP00000451123
ENST00000555392
ENST00000555511
ENST00000556588
ENST00000553448
ENST00000557780
ENST00000556299
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004497 monooxygenase activity
GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
GO:0050660 flavin adenine dinucleotide binding
Biological Process
GO:0006744 ubiquinone biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005794 Golgi apparatus
GO:0042995 cell projection
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Ubiquinol biosynthesis pathway
KEGG
Ubiquinone and other terpenoid-quinone biosynthesis pathway
INOH
PID BIOCARTA
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