Human Gene COQ5 (ENST00000288532.11_7) from GENCODE V47lift37
  Description: coenzyme Q5, methyltransferase (from RefSeq NM_032314.4)
Gencode Transcript: ENST00000288532.11_7
Gencode Gene: ENSG00000110871.15_11
Transcript (Including UTRs)
   Position: hg19 chr12:120,941,082-120,966,961 Size: 25,880 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr12:120,941,587-120,966,944 Size: 25,358 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:120,941,082-120,966,961)mRNA (may differ from genome)Protein (327 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COQ5_HUMAN
DESCRIPTION: RecName: Full=2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; EC=2.1.1.201; AltName: Full=Ubiquinone biosynthesis methyltransferase COQ5; Flags: Precursor;
FUNCTION: Methyltransferase required for the conversion of 2- polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3- methyl-6-methoxy-1,4-benzoquinol (DMQH2) (By similarity).
CATALYTIC ACTIVITY: S-adenosyl-L-methionine + 2-methoxy-6-all- trans-polyprenyl-1,4-benzoquinol = S-adenosyl-L-homocysteine + 6- methoxy-3-methyl-2-all-trans-polyprenyl-1,4-benzoquinol.
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis.
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
SIMILARITY: Belongs to the methyltransferase superfamily. UbiE 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


-  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: 26.13 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 634.33 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.7017-0.100 Picture PostScript Text
3' UTR -132.20505-0.262 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
IPR004033 - UbiE/COQ5_MeTrFase
IPR023576 - UbiE/COQ5_MeTrFase_CS
IPR025765 - UbiE/COQ5_MeTrFase_dom

Pfam Domains:
PF01209 - ubiE/COQ5 methyltransferase family
PF08241 - Methyltransferase domain
PF08242 - Methyltransferase domain
PF13489 - Methyltransferase domain
PF13649 - Methyltransferase domain
PF13847 - Methyltransferase domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
53335 - S-adenosyl-L-methionine-dependent methyltransferases

ModBase Predicted Comparative 3D Structure on Q5HYK3
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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 BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0016740 transferase activity
GO:0102005 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity

Biological Process:
GO:0006744 ubiquinone biosynthetic process
GO:0032259 methylation

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0016020 membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK293656 - Homo sapiens cDNA FLJ50117 complete cds, highly similar to Ubiquinone biosynthesis methyltransferase COQ5, mitochondrial precursor (EC 2.1.1.-).
BC004916 - Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae), mRNA (cDNA clone IMAGE:3538702), partial cds.
AK222610 - Homo sapiens mRNA for hypothetical protein MGC4767 variant, clone: CAS10422.
BC107874 - Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae), mRNA (cDNA clone MGC:104303 IMAGE:6452052), complete cds.
AK057777 - Homo sapiens cDNA FLJ25048 fis, clone CBL03993.
EU700459 - Homo sapiens COQ5 mRNA, complete cds.
BX647562 - Homo sapiens mRNA; cDNA DKFZp313K0719 (from clone DKFZp313K0719).
AK225242 - Homo sapiens mRNA for hypothetical protein LOC84274 variant, clone: DMC02742.
JD444512 - Sequence 425536 from Patent EP1572962.
JD540692 - Sequence 521716 from Patent EP1572962.
AK298214 - Homo sapiens cDNA FLJ55122 complete cds, highly similar to Ubiquinone biosynthesis methyltransferaseCOQ5, mitochondrial precursor (EC 2.1.1.-).
JD064924 - Sequence 45948 from Patent EP1572962.
JD068225 - Sequence 49249 from Patent EP1572962.
JD205608 - Sequence 186632 from Patent EP1572962.
AK315681 - Homo sapiens cDNA, FLJ96775.
KJ899777 - Synthetic construct Homo sapiens clone ccsbBroadEn_09171 COQ5 gene, encodes complete protein.
AB590926 - Synthetic construct DNA, clone: pFN21AE1810, Homo sapiens COQ5 gene for coenzyme Q5 homolog, methyltransferase, without stop codon, in Flexi system.
JD197560 - Sequence 178584 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein Q5HYK3 (Reactome details) participates in the following event(s):

R-HSA-2162188 MDMQ10H2 is methylated to DMQ10H2 by COQ5
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: B2RDU9, B3GK62, B4DEJ4, COQ5 , COQ5_HUMAN, ENST00000288532.1, ENST00000288532.10, ENST00000288532.2, ENST00000288532.3, ENST00000288532.4, ENST00000288532.5, ENST00000288532.6, ENST00000288532.7, ENST00000288532.8, ENST00000288532.9, NM_032314, Q32Q28, Q53HH0, Q5HYK3, Q96LV1, Q9BSP8, uc317kqb.1, uc317kqb.2
UCSC ID: ENST00000288532.11_7
RefSeq Accession: NM_032314.4
Protein: Q5HYK3 (aka COQ5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COQ5:
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.