Human Gene COQ4 (uc004bur.4)
  Description: Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_016035): This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
Transcript (Including UTRs)
   Position: hg19 chr9:131,084,791-131,096,351 Size: 11,561 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr9:131,085,138-131,095,924 Size: 10,787 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:131,084,791-131,096,351)mRNA (may differ from genome)Protein (265 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COQ4_HUMAN
DESCRIPTION: RecName: Full=Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial; AltName: Full=Coenzyme Q biosynthesis protein 4 homolog; Flags: Precursor;
FUNCTION: Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis.
SUBUNIT: Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity).
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
TISSUE SPECIFICITY: Expressed ubiquitously, but at high levels in liver, lung and pancreas.
SIMILARITY: Belongs to the COQ4 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): COQ4
CDC HuGE Published Literature: COQ4

-  MalaCards Disease Associations
  MalaCards Gene Search: COQ4
Diseases sorted by gene-association score: coenzyme q10 deficiency, primary, 7* (1580), coq4-related coenzyme q10 deficiency* (500), newborn respiratory distress syndrome (5), mitochondrial encephalomyopathy (5), mitochondrial disorders (4), glutaric acidemia iic (4)
* = 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: 26.36 RPKM in Thyroid
Total median expression: 601.02 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 -117.60347-0.339 Picture PostScript Text
3' UTR -170.20427-0.399 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
IPR007715 - CoenzQ_biosynthesis_Coq4

Pfam Domains:
PF05019 - Coenzyme Q (ubiquinone) biosynthesis protein Coq4

ModBase Predicted Comparative 3D Structure on Q9Y3A0
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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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006744 ubiquinone biosynthetic process

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


-  Descriptions from all associated GenBank mRNAs
  AK313650 - Homo sapiens cDNA, FLJ94227, highly similar to Homo sapiens coenzyme Q4 homolog (yeast) (COQ4), mRNA.
EU216419 - Homo sapiens isolate 1 coenzyme Q4-like protein isoform 1 (COQ4) mRNA, complete cds.
AF151850 - Homo sapiens CGI-92 protein mRNA, complete cds.
JD395254 - Sequence 376278 from Patent EP1572962.
AK025376 - Homo sapiens cDNA: FLJ21723 fis, clone COLF0579, highly similar to AF151850 Homo sapiens CGI-92 protein mRNA.
EU216420 - Homo sapiens isolate 2 coenzyme Q4-like protein isoform 1 (COQ4) mRNA, complete cds.
EU216421 - Homo sapiens isolate 3 coenzyme Q4-like protein isoform 1 (COQ4) mRNA, complete cds.
AK126646 - Homo sapiens cDNA FLJ44688 fis, clone BRACE3011774.
EU216422 - Homo sapiens isolate 4 coenzyme Q4-like protein isoform 1 (COQ4) mRNA, complete cds.
BC011895 - Homo sapiens coenzyme Q4 homolog (S. cerevisiae), mRNA (cDNA clone MGC:19936 IMAGE:3944239), complete cds.
AK301333 - Homo sapiens cDNA FLJ58433 complete cds, highly similar to Ubiquinone biosynthesis protein COQ4 homolog.
AB528109 - Synthetic construct DNA, clone: pF1KE0122, Homo sapiens COQ4 gene for coenzyme Q4 homolog, without stop codon, in Flexi system.
AM392657 - Synthetic construct Homo sapiens clone IMAGE:100002026 for hypothetical protein (COQ4 gene).
KJ893822 - Synthetic construct Homo sapiens clone ccsbBroadEn_03216 COQ4 gene, encodes complete protein.
JD025773 - Sequence 6797 from Patent EP1572962.
JD031112 - Sequence 12136 from Patent EP1572962.
EU216423 - Homo sapiens coenzyme Q4-like protein isoform 2 (COQ4) mRNA, complete cds.
AK128853 - Homo sapiens cDNA FLJ46639 fis, clone TRACH3002605.
BC036603 - Homo sapiens coenzyme Q4 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:5274719), with apparent retained intron.
AK095083 - Homo sapiens cDNA FLJ37764 fis, clone BRHIP2024549.
JD108869 - Sequence 89893 from Patent EP1572962.
JD056011 - Sequence 37035 from Patent EP1572962.
JD067263 - Sequence 48287 from Patent EP1572962.
JD188257 - Sequence 169281 from Patent EP1572962.
JD107988 - Sequence 89012 from Patent EP1572962.
JD250760 - Sequence 231784 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8WBK8, B2R958, CGI-92, COQ4_HUMAN, NM_016035, NP_057119, Q5T4B8, Q96EW4, Q9Y3A0
UCSC ID: uc004bur.4
RefSeq Accession: NM_016035
Protein: Q9Y3A0 (aka COQ4_HUMAN)
CCDS: CCDS6898.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COQ4:
coq10-def (Primary Coenzyme Q10 Deficiency Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016035.3
exon count: 7CDS single in 3' UTR: no RNA size: 1597
ORF size: 798CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 1634.50frame shift in genome: no % Coverage: 98.43
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.