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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Metabolic proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q24.3
Chromosome location (bp)
73949926 - 73963670
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-hexaprenyl-4-hydroxybenzoic acid (HHB) to 3-hexaprenyl-4,5-dihydroxybenzoic acid (DHHB). The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6 (By similarity). Is able to perform the deamination reaction at C4 of 3-hexaprenyl-4-amino-5-hydroxybenzoic acid (HHAB) to produce DHHB when expressed in yeast cells lacking COQ9, even if utilization of para-aminobenzoic acid (pABA) involving C4-deamination seems not to occur in bacteria, plants and mammals, where only C5 hydroxylation of HHB has been shown 1....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Monooxygenase, Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ubiquinone biosynthesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
FAD, Flavoprotein
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004497[monooxygenase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005794[Golgi apparatus] GO:0006744[ubiquinone biosynthetic process] GO:0008681[2-octaprenyl-6-methoxyphenol hydroxylase activity] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] 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:0016712[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen] GO:0031314[extrinsic component of mitochondrial inner membrane] GO:0042995[cell projection] GO:0050660[flavin adenine dinucleotide binding] GO:0071949[FAD binding] GO:0106364[4-hydroxy-3-all-trans-hexaprenylbenzoate oxygenase activity] GO:0110142[ubiquinone biosynthesis complex]
Metabolic proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004497[monooxygenase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005794[Golgi apparatus] GO:0006744[ubiquinone biosynthetic process] GO:0008681[2-octaprenyl-6-methoxyphenol hydroxylase activity] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] 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:0016712[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen] GO:0031314[extrinsic component of mitochondrial inner membrane] GO:0042995[cell projection] GO:0050660[flavin adenine dinucleotide binding] GO:0071949[FAD binding] GO:0106364[4-hydroxy-3-all-trans-hexaprenylbenzoate oxygenase activity] GO:0110142[ubiquinone biosynthesis complex]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004497[monooxygenase activity] GO:0005743[mitochondrial inner membrane] GO:0006744[ubiquinone biosynthetic process] GO:0008681[2-octaprenyl-6-methoxyphenol hydroxylase activity] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] 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] GO:0071949[FAD binding]
The Human Protein Atlas project is funded
