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Aliases for COQ6 Gene

Aliases for COQ6 Gene

  • Coenzyme Q6 Monooxygenase 2 3
  • Coenzyme Q10 Monooxygenase 6 3 4
  • COQ10D6 3 6
  • CGI10 3 6
  • Coenzyme Q6 Homolog, Monooxygenase (S. Cerevisiae) 2
  • Coenzyme Q6 Homolog, Monooxygenase (Yeast) 2
  • Ubiquinone Biosynthesis Monooxygenase COQ6 3
  • Coenzyme Q6 Homolog, Monooxygenase 3
  • Coenzyme Q6 Homolog (Yeast) 2
  • EC 1.14.13.- 4
  • EC 1.14.13 63
  • CGI-10 3

External Ids for COQ6 Gene

Previous GeneCards Identifiers for COQ6 Gene

  • GC14P068212
  • GC14P072406
  • GC14P073486
  • GC14P074416
  • GC14P054583

Summaries for COQ6 Gene

Entrez Gene Summary for COQ6 Gene

  • 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]

GeneCards Summary for COQ6 Gene

COQ6 (Coenzyme Q6 Monooxygenase) is a Protein Coding gene. Diseases associated with COQ6 include coenzyme q10 deficiency, primary, 6 and familial steroid-resistant nephrotic syndrome with sensorineural deafness. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and 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.

UniProtKB/Swiss-Prot for COQ6 Gene

  • FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3-polyprenyl-4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ6 Gene

Genomics for COQ6 Gene

Regulatory Elements for COQ6 Gene

Genomic Location for COQ6 Gene

Start:
73,949,926 bp from pter
End:
73,963,670 bp from pter
Size:
13,745 bases
Orientation:
Plus strand

Genomic View for COQ6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COQ6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ6 Gene

Proteins for COQ6 Gene

  • Protein details for COQ6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Z9-COQ6_HUMAN
    Recommended name:
    Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial
    Protein Accession:
    Q9Y2Z9
    Secondary Accessions:
    • B7Z3K8
    • Q53GG6
    • Q86U30
    • Q96CA1
    • Q96CK2

    Protein attributes for COQ6 Gene

    Size:
    468 amino acids
    Molecular mass:
    50870 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity). Interacts with ADCK4 and COQ7 (PubMed:24270420).

    Alternative splice isoforms for COQ6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ6 Gene

Proteomics data for COQ6 Gene at MOPED

Selected DME Specific Peptides for COQ6 Gene

Post-translational modifications for COQ6 Gene

  • Ubiquitination at Lys78
  • Modification sites at PhosphoSitePlus

Other Protein References for COQ6 Gene

Domains for COQ6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2Z9

UniProtKB/Swiss-Prot:

COQ6_HUMAN :
  • Q9Y2Z9
Family:
  • Belongs to the UbiH/COQ6 family.
genes like me logo Genes that share domains with COQ6: view

No data available for Gene Families for COQ6 Gene

Function for COQ6 Gene

Molecular function for COQ6 Gene

UniProtKB/Swiss-Prot Function: FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3-polyprenyl-4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6.

Enzyme Numbers (IUBMB) for COQ6 Gene

Gene Ontology (GO) - Molecular Function for COQ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IBA --
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 IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with COQ6: view

miRNA for COQ6 Gene

miRTarBase miRNAs that target COQ6

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for COQ6 Gene

Localization for COQ6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ6 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. Golgi apparatus. Cell projection. Note=Localizes to cell processes and Golgi apparatus in podocytes. {ECO:0000255 HAMAP-Rule:MF_03193}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COQ6 Gene COMPARTMENTS Subcellular localization image for COQ6 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 4
nucleus 1

Gene Ontology (GO) - Cellular Components for COQ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005794 Golgi apparatus IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with COQ6: view

Pathways for COQ6 Gene

genes like me logo Genes that share pathways with COQ6: view

Pathways by source for COQ6 Gene

UniProtKB/Swiss-Prot Q9Y2Z9-COQ6_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0044550 secondary metabolite biosynthetic process IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with COQ6: view

Compounds for COQ6 Gene

(4) HMDB Compounds for COQ6 Gene

Compound Synonyms Cas Number PubMed IDs
2-Hexaprenyl-6-methoxy-1,4-benzoquinone
  • 2-polyprenyl-6-methoxy-1,4-benzoquinol
Not Available
2-Hexaprenyl-6-methoxyphenol
Not Available
Difucosyllactohexaose
  • DFH
115236-57-2
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
genes like me logo Genes that share compounds with COQ6: view

Transcripts for COQ6 Gene

Unigene Clusters for COQ6 Gene

Coenzyme Q6 homolog, monooxygenase (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COQ6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a ·
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: - - -
SP7: - - - - - - -
SP8: -
SP9: - -
SP10:
SP11: -

ExUns: 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for COQ6 Gene

GeneLoc Exon Structure for
COQ6
ECgene alternative splicing isoforms for
COQ6

Expression for COQ6 Gene

mRNA expression in normal human tissues for COQ6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COQ6 Gene

SOURCE GeneReport for Unigene cluster for COQ6 Gene Hs.131555

mRNA Expression by UniProt/SwissProt for COQ6 Gene

Q9Y2Z9-COQ6_HUMAN
Tissue specificity: Widely epressed.
genes like me logo Genes that share expressions with COQ6: view

No data available for mRNA differential expression in normal tissues for COQ6 Gene

Orthologs for COQ6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COQ6 35
  • 99.57 (n)
  • 99.15 (a)
COQ6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COQ6 35
  • 89.03 (n)
  • 89.53 (a)
COQ6 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COQ6 35
  • 90.24 (n)
  • 92.31 (a)
COQ6 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coq6 35
  • 85.33 (n)
  • 87.61 (a)
Coq6 16
Coq6 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ6 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coq6 35
  • 85.61 (n)
  • 86.75 (a)
chicken
(Gallus gallus)
Aves COQ6 35
  • 71.03 (n)
  • 72.32 (a)
COQ6 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COQ6 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24462 35
tropical clawed frog
(Silurana tropicalis)
Amphibia coq6 35
  • 68.74 (n)
  • 71.43 (a)
Str.3621 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3589 35
zebrafish
(Danio rerio)
Actinopterygii coq6 35
  • 66.59 (n)
  • 66.89 (a)
coq6 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000106 35
  • 50.91 (n)
  • 47.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7277 35
  • 51.49 (n)
  • 44.8 (a)
CG7277 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea coq-6 35
  • 47.55 (n)
  • 42.18 (a)
coq-6 36
  • 39 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR648W 35
  • 44.77 (n)
  • 37.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ6 35
  • 44.56 (n)
  • 36.03 (a)
COQ6 36
  • 30 (a)
OneToOne
COQ6 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02761g 35
  • 46.05 (n)
  • 39.36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24200 35
  • 48.51 (n)
  • 37.63 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.9662 35
rice
(Oryza sativa)
Liliopsida Os03g0839100 35
  • 47.67 (n)
  • 37.68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02536 35
  • 48.09 (n)
  • 40.89 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq6 35
  • 43.25 (n)
  • 36.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for COQ6:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COQ6 Gene

ENSEMBL:
Gene Tree for COQ6 (if available)
TreeFam:
Gene Tree for COQ6 (if available)

Paralogs for COQ6 Gene

Pseudogenes.org Pseudogenes for COQ6 Gene

genes like me logo Genes that share paralogs with COQ6: view

No data available for Paralogs for COQ6 Gene

Variants for COQ6 Gene

Sequence variations from dbSNP and Humsavar for COQ6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs1972538 -- 73,956,140(-) tcacc(A/G)tgtta intron-variant
rs1985969 -- 73,956,220(-) ctccc(A/G)agtag intron-variant
rs2079632 -- 73,954,509(-) ACCTC(C/G)TAAAG intron-variant
rs2098030 -- 73,954,618(-) gatcc(A/G)cctgc intron-variant
rs2302118 -- 73,955,626(-) TCGGA(C/G)TGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COQ6 Gene

Variant ID Type Subtype PubMed ID
nsv1352 CNV Loss 18451855
nsv456339 CNV Loss 19166990
nsv524396 CNV Gain 19592680

Relevant External Links for COQ6 Gene

HapMap Linkage Disequilibrium report
COQ6
Human Gene Mutation Database (HGMD)
COQ6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ6 Gene

Disorders for COQ6 Gene

(1) OMIM Diseases for COQ6 Gene (614647)

UniProtKB/Swiss-Prot

COQ6_HUMAN
  • Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. {ECO:0000269 PubMed:21540551}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COQ6

Genetic Association Database (GAD)
COQ6
Human Genome Epidemiology (HuGE) Navigator
COQ6
genes like me logo Genes that share disorders with COQ6: view

Publications for COQ6 Gene

  1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. (PMID: 21540551) Heeringa S.F. … Hildebrandt F. (J. Clin. Invest. 2011) 2 3 4
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PMID: 21110914) Grant M.M. (BMB Rep 2010) 3

Products for COQ6 Gene

Sources for COQ6 Gene

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