Human Gene COQ9 (ENST00000262507.11)
  Description: Homo sapiens coenzyme Q9 (COQ9), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_020312)
RefSeq Summary (NM_020312): This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010].
Gencode Transcript: ENST00000262507.11
Gencode Gene: ENSG00000088682.14
Transcript (Including UTRs)
   Position: hg38 chr16:57,447,479-57,461,270 Size: 13,792 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr16:57,447,506-57,460,624 Size: 13,119 Coding Exon Count: 9 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:57,447,479-57,461,270)mRNA (may differ from genome)Protein (318 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
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ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: COQ9_HUMAN
DESCRIPTION: RecName: Full=Ubiquinone biosynthesis protein COQ9, mitochondrial; Flags: Precursor;
FUNCTION: Involved in the biosynthesis of coenzyme Q (By similarity).
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis.
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
DISEASE: Defects in COQ9 are the cause of coenzyme Q10 deficiency, primary, type 5 (COQ10D5) [MIM:614654]. A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.
SIMILARITY: Belongs to the COQ9 family.
SEQUENCE CAUTION: Sequence=AAF29004.1; Type=Frameshift; Positions=26, 133, 138, 141;

-  MalaCards Disease Associations
  MalaCards Gene Search: COQ9
Diseases sorted by gene-association score: coenzyme q10 deficiency, primary, 5* (1269), coq9-related coenzyme q10 deficiency* (500), coenzyme q10 deficiency disease (9), glutaric acidemia iic (5), leigh syndrome (1)
* = 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: 79.02 RPKM in Heart - Left Ventricle
Total median expression: 1346.16 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 -11.1027-0.411 Picture PostScript Text
3' UTR -194.50646-0.301 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
IPR013718 - COQ9
IPR012762 - Ubiq_biosynth_COQ9

Pfam Domains:
PF08511 - COQ9

ModBase Predicted Comparative 3D Structure on O75208
FrontTopSide
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 BrowserNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsembl SGD
Protein SequenceProtein Sequence Protein Sequence Protein Sequence
AlignmentAlignment Alignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0006744 ubiquinone biosynthetic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane


-  Descriptions from all associated GenBank mRNAs
  AK075438 - Homo sapiens cDNA PSEC0129 fis, clone PLACE1004170.
LF384429 - JP 2014500723-A/191932: Polycomb-Associated Non-Coding RNAs.
MA620006 - JP 2018138019-A/191932: Polycomb-Associated Non-Coding RNAs.
AK295793 - Homo sapiens cDNA FLJ60575 complete cds, highly similar to Ubiquinone biosynthesis protein COQ9, mitochondrial precursor.
BC064946 - Homo sapiens coenzyme Q9 homolog (S. cerevisiae), mRNA (cDNA clone MGC:75177 IMAGE:6023461), complete cds.
AK293585 - Homo sapiens cDNA FLJ57712 complete cds, highly similar to Ubiquinone biosynthesis protein COQ9, mitochondrial precursor.
BC029341 - Homo sapiens coenzyme Q9 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3924941).
BC054340 - Homo sapiens coenzyme Q9 homolog (S. cerevisiae), mRNA (cDNA clone MGC:61577 IMAGE:6514554), complete cds.
AF161444 - Homo sapiens HSPC326 mRNA, partial cds.
AK303527 - Homo sapiens cDNA FLJ58968 complete cds, highly similar to Ubiquinone biosynthesis protein COQ9, mitochondrial precursor.
AK290627 - Homo sapiens cDNA FLJ76610 complete cds.
CU687976 - Synthetic construct Homo sapiens gateway clone IMAGE:100021684 5' read COQ9 mRNA.
EU832587 - Synthetic construct Homo sapiens clone HAIB:100067616; DKFZo004G0230 coenzyme Q9 homolog (S. cerevisiae) protein (COQ9) gene, encodes complete protein.
HQ448097 - Synthetic construct Homo sapiens clone IMAGE:100071477; CCSB012324_01 coenzyme Q9 homolog (S. cerevisiae) (COQ9) gene, encodes complete protein.
KJ894377 - Synthetic construct Homo sapiens clone ccsbBroadEn_03771 COQ9 gene, encodes complete protein.
EU832506 - Synthetic construct Homo sapiens clone HAIB:100067535; DKFZo008G0229 coenzyme Q9 homolog (S. cerevisiae) protein (COQ9) gene, encodes complete protein.
BC001478 - Homo sapiens coenzyme Q9 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:2967312), partial cds.
LF373730 - JP 2014500723-A/181233: Polycomb-Associated Non-Coding RNAs.
MA609307 - JP 2018138019-A/181233: Polycomb-Associated Non-Coding RNAs.
LF373731 - JP 2014500723-A/181234: Polycomb-Associated Non-Coding RNAs.
MA609308 - JP 2018138019-A/181234: Polycomb-Associated Non-Coding RNAs.
AL136884 - Homo sapiens mRNA; cDNA DKFZp434K046 (from clone DKFZp434K046).
JD410218 - Sequence 391242 from Patent EP1572962.
JD319695 - Sequence 300719 from Patent EP1572962.
JD135557 - Sequence 116581 from Patent EP1572962.
JD410298 - Sequence 391322 from Patent EP1572962.
JD114990 - Sequence 96014 from Patent EP1572962.
JD545728 - Sequence 526752 from Patent EP1572962.
JD403878 - Sequence 384902 from Patent EP1572962.
JD511768 - Sequence 492792 from Patent EP1572962.
JD382945 - Sequence 363969 from Patent EP1572962.
JD344466 - Sequence 325490 from Patent EP1572962.
JD549872 - Sequence 530896 from Patent EP1572962.
JD390578 - Sequence 371602 from Patent EP1572962.
JD254836 - Sequence 235860 from Patent EP1572962.
JD301919 - Sequence 282943 from Patent EP1572962.
JD157680 - Sequence 138704 from Patent EP1572962.
JD183547 - Sequence 164571 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75208 (Reactome details) participates in the following event(s):

R-HSA-2162194 COQ9 dimer:COQ7:Fe2+ hydroxylates DMQ10H2 to DeMQ10H2
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: A8K3L2, C16orf49, COQ9_HUMAN, ENST00000262507.1, ENST00000262507.10, ENST00000262507.2, ENST00000262507.3, ENST00000262507.4, ENST00000262507.5, ENST00000262507.6, ENST00000262507.7, ENST00000262507.8, ENST00000262507.9, HSPC326, NM_020312, O75208, PSEC0129, Q7L5V7, Q7Z5T6, Q8NBL4, Q9NTJ2, Q9P056, uc002elq.1, uc002elq.2, uc002elq.3, uc002elq.4, uc002elq.5
UCSC ID: ENST00000262507.11
RefSeq Accession: NM_020312
Protein: O75208 (aka COQ9_HUMAN)
CCDS: CCDS32459.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COQ9:
coq10-def (Primary Coenzyme Q10 Deficiency)
ataxias (Hereditary Ataxia Overview)

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