Human Gene COQ4 (ENST00000300452.8)
  Description: Homo sapiens coenzyme Q4 (COQ4), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016035)
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].
Gencode Transcript: ENST00000300452.8
Gencode Gene: ENSG00000167113.11
Transcript (Including UTRs)
   Position: hg38 chr9:128,322,839-128,334,072 Size: 11,234 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr9:128,322,859-128,333,645 Size: 10,787 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr9:128,322,839-128,334,072)mRNA (may differ from genome)Protein (265 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  Comments and Description Text from UniProtKB
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.

-  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

-  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 -6.4020-0.320 Picture PostScript Text
3' UTR -166.80427-0.391 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
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
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
Protein SequenceProtein Sequence Protein SequenceProtein SequenceProtein Sequence
AlignmentAlignment AlignmentAlignmentAlignment

-  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.
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, ENST00000300452.1, ENST00000300452.2, ENST00000300452.3, ENST00000300452.4, ENST00000300452.5, ENST00000300452.6, ENST00000300452.7, NM_016035, Q5T4B8, Q96EW4, Q9Y3A0, uc004bur.1, uc004bur.2, uc004bur.3, uc004bur.4, uc004bur.5, uc004bur.6
UCSC ID: ENST00000300452.8
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)

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