Human Gene COQ6 (ENST00000334571.7_4) from GENCODE V47lift37
  Description: coenzyme Q6, monooxygenase, transcript variant 1 (from RefSeq NM_182476.3)
Gencode Transcript: ENST00000334571.7_4
Gencode Gene: ENSG00000119723.17_8
Transcript (Including UTRs)
   Position: hg19 chr14:74,417,005-74,430,373 Size: 13,369 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr14:74,417,036-74,429,702 Size: 12,667 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:74,417,005-74,430,373)mRNA (may differ from genome)Protein (468 aa)
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-  Comments and Description Text from UniProtKB
  ID: COQ6_HUMAN
DESCRIPTION: RecName: Full=Ubiquinone biosynthesis monooxygenase COQ6; EC=1.14.13.-; AltName: Full=Coenzyme Q10 monooxygenase 6;
COFACTOR: FAD (Potential).
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis.
SUBCELLULAR LOCATION: Golgi apparatus. Cell projection (By similarity). Note=Localizes to podocyte cell processes (By similarity).
TISSUE SPECIFICITY: Widely epressed.
DISEASE: Defects in COQ6 are the cause of coenzyme Q10 deficiency, primary, type 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.
SIMILARITY: Belongs to the UbiH/COQ6 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COQ6
Diseases sorted by gene-association score: coenzyme q10 deficiency, primary, 6* (1580), coq6-related coenzyme q10 deficiency* (100), schwannomatosis* (29), nephrotic syndrome (16), glutaric acidemia iic (7), focal segmental glomerulosclerosis (5), end stage renal failure (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.54 RPKM in Adrenal Gland
Total median expression: 357.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.3031-0.268 Picture PostScript Text
3' UTR -122.40671-0.182 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002938 - mOase_FAD-bd
IPR003042 - Rng_hydrolase-like
IPR018168 - Ubi_Hdrlase_CS
IPR010971 - Ubi_Hdrxlases
IPR000689 - UbQ_biosynth_mOase

Pfam Domains:
PF01494 - FAD binding domain

SCOP Domains:
47226 - Histidine-containing phosphotransfer domain, HPT domain
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51971 - Nucleotide-binding domain

ModBase Predicted Comparative 3D Structure on Q9Y2Z9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0016491 oxidoreductase 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
GO:0071949 FAD binding

Biological Process:
GO:0006744 ubiquinone biosynthetic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  LF384870 - JP 2014500723-A/192373: Polycomb-Associated Non-Coding RNAs.
AK296040 - Homo sapiens cDNA FLJ50973 complete cds, highly similar to Ubiquinone biosynthesis monooxygenase COQ6 (EC 1.14.13.-).
BX248000 - human full-length cDNA clone CS0DM001YP16 of Fetal liver of Homo sapiens (human).
AK303350 - Homo sapiens cDNA FLJ51173 complete cds, highly similar to Homo sapiens coenzyme Q6 homolog (COQ6), transcript variant 2, mRNA.
AK316356 - Homo sapiens cDNA, FLJ79255 complete cds, highly similar to Homo sapiens coenzyme Q6 homolog (COQ6), transcript variant 2, mRNA.
AK130167 - Homo sapiens cDNA FLJ26657 fis, clone MPE08315, highly similar to Ubiquinone biosynthesis monooxgenase COQ6 (EC 1.14.13.-).
AK303304 - Homo sapiens cDNA FLJ52294 complete cds, highly similar to Homo sapiens coenzyme Q6 homolog (COQ6), transcript variant 2, mRNA.
BC014181 - Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae), mRNA (cDNA clone MGC:20780 IMAGE:4621678), complete cds.
AK307306 - Homo sapiens cDNA, FLJ97254.
AK296386 - Homo sapiens cDNA FLJ58904 complete cds, highly similar to Ubiquinone biosynthesis monooxygenase COQ6 (EC1.14.13.-).
AK295517 - Homo sapiens cDNA FLJ58993 complete cds, highly similar to Ubiquinone biosynthesis monooxygenase COQ6 (EC 1.14.13.-).
AK294370 - Homo sapiens cDNA FLJ53037 complete cds, highly similar to Homo sapiens coenzyme Q6 homolog (COQ6), transcript variant 2, mRNA.
AK222965 - Homo sapiens mRNA for CGI-10 protein isoform a variant, clone: HRT07334.
BC014483 - Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae), mRNA (cDNA clone MGC:23201 IMAGE:4866198), complete cds.
DQ892635 - Synthetic construct clone IMAGE:100005265; FLH188502.01X; RZPDo839D0173D coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6) gene, encodes complete protein.
DQ895873 - Synthetic construct Homo sapiens clone IMAGE:100010333; FLH188498.01L; RZPDo839D0163D coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6) gene, encodes complete protein.
AF132944 - Homo sapiens CGI-10 protein mRNA, complete cds.
CU677021 - Synthetic construct Homo sapiens gateway clone IMAGE:100019545 5' read COQ6 mRNA.
CU680818 - Synthetic construct Homo sapiens gateway clone IMAGE:100019543 5' read COQ6 mRNA.
KJ906147 - Synthetic construct Homo sapiens clone ccsbBroadEn_15817 COQ6 gene, encodes complete protein.
BX648434 - Homo sapiens mRNA; cDNA DKFZp686J17253 (from clone DKFZp686J17253).
JD296778 - Sequence 277802 from Patent EP1572962.
MA620447 - JP 2018138019-A/192373: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5872 - ubiquinol-10 biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9Y2Z9 (Reactome details) participates in the following event(s):

R-HSA-2162187 DHB is hydroxylated to DHDB by COQ6
R-HSA-2142789 Ubiquinol biosynthesis
R-HSA-8978934 Metabolism of cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z3K8, CGI-10, COQ6 , COQ6_HUMAN, ENST00000334571.1, ENST00000334571.2, ENST00000334571.3, ENST00000334571.4, ENST00000334571.5, ENST00000334571.6, NM_182476, Q53GG6, Q86U30, Q96CA1, Q96CK2, Q9Y2Z9, uc317uae.1, uc317uae.2
UCSC ID: ENST00000334571.7_4
RefSeq Accession: NM_182476.3
Protein: Q9Y2Z9 (aka COQ6_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COQ6:
coq10-def (Primary Coenzyme Q10 Deficiency Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.