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Aliases for COQ9 Gene

Aliases for COQ9 Gene

  • Coenzyme Q9 2 3
  • C16orf49 3 4 6
  • COQ10D5 3 6
  • Ubiquinone Biosynthesis Protein COQ9, Mitochondrial 3
  • Chromosome 16 Open Reading Frame 49 2
  • Coenzyme Q9 Homolog (S. Cerevisiae) 2
  • Coenzyme Q9 Homolog (Yeast) 2
  • Coenzyme Q9 Homolog 3

External Ids for COQ9 Gene

Previous HGNC Symbols for COQ9 Gene

  • C16orf49

Previous GeneCards Identifiers for COQ9 Gene

  • GC16P056040
  • GC16P057481
  • GC16P043348

Summaries for COQ9 Gene

Entrez Gene Summary for COQ9 Gene

  • 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]

GeneCards Summary for COQ9 Gene

COQ9 (Coenzyme Q9) is a Protein Coding gene. Diseases associated with COQ9 include coenzyme q10 deficiency, primary, 5 and coq9-related coenzyme q10 deficiency.

UniProtKB/Swiss-Prot for COQ9 Gene

  • Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.

Gene Wiki entry for COQ9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ9 Gene

Genomics for COQ9 Gene

Regulatory Elements for COQ9 Gene

Genomic Location for COQ9 Gene

Start:
57,447,425 bp from pter
End:
57,461,275 bp from pter
Size:
13,851 bases
Orientation:
Plus strand

Genomic View for COQ9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COQ9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ9 Gene

Proteins for COQ9 Gene

  • Protein details for COQ9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75208-COQ9_HUMAN
    Recommended name:
    Ubiquinone biosynthesis protein COQ9, mitochondrial
    Protein Accession:
    O75208
    Secondary Accessions:
    • A8K3L2
    • Q7L5V7
    • Q7Z5T6
    • Q8NBL4
    • Q9NTJ2
    • Q9P056

    Protein attributes for COQ9 Gene

    Size:
    318 amino acids
    Molecular mass:
    35509 Da
    Quaternary structure:
    • Homodimer. Interacts with COQ7.
    SequenceCaution:
    • Sequence=AAF29004.1; Type=Frameshift; Positions=26, 133, 138, 141; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COQ9 Gene

    Alternative splice isoforms for COQ9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ9 Gene

Proteomics data for COQ9 Gene at MOPED

Post-translational modifications for COQ9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COQ9 Gene

Domains for COQ9 Gene

Protein Domains for COQ9 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COQ9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75208

UniProtKB/Swiss-Prot:

COQ9_HUMAN :
  • O75208
Domain:
  • Structurally similar to the bacterial FadR protein (fatty acid metabolism regulator protein).
Family:
  • Belongs to the COQ9 family.
genes like me logo Genes that share domains with COQ9: view

No data available for Gene Families for COQ9 Gene

Function for COQ9 Gene

Molecular function for COQ9 Gene

UniProtKB/Swiss-Prot Function: Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.

Gene Ontology (GO) - Molecular Function for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0005515 protein binding IPI 25339443
GO:0008289 lipid binding IDA 25339443
GO:0042803 protein homodimerization activity IDA 25339443
genes like me logo Genes that share ontologies with COQ9: view
genes like me logo Genes that share phenotypes with COQ9: view

miRNA for COQ9 Gene

miRTarBase miRNAs that target COQ9

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for COQ9 Gene

Localization for COQ9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ9 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COQ9 Gene COMPARTMENTS Subcellular localization image for COQ9 gene
Compartment Confidence
mitochondrion 3
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
genes like me logo Genes that share ontologies with COQ9: view

Pathways for COQ9 Gene

SuperPathways for COQ9 Gene

No Data Available

UniProtKB/Swiss-Prot O75208-COQ9_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone IEA --
GO:0006744 ubiquinone biosynthetic process ISS --
genes like me logo Genes that share ontologies with COQ9: view

No data available for Pathways by source for COQ9 Gene

Compounds for COQ9 Gene

(4) Novoseek inferred chemical compound relationships for COQ9 Gene

Compound -log(P) Hits PubMed IDs
coq9 94.8 5
coq10 83.2 4
vitamin-e 33.8 2
lipid 0 1
genes like me logo Genes that share compounds with COQ9: view

Transcripts for COQ9 Gene

Unigene Clusters for COQ9 Gene

Coenzyme Q9 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COQ9 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - -
SP10: -
SP11: -

Relevant External Links for COQ9 Gene

GeneLoc Exon Structure for
COQ9
ECgene alternative splicing isoforms for
COQ9

Expression for COQ9 Gene

mRNA expression in normal human tissues for COQ9 Gene

mRNA differential expression in normal tissues according to GTEx for COQ9 Gene

This gene is overexpressed in Heart - Left Ventricle (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COQ9 Gene

SOURCE GeneReport for Unigene cluster for COQ9 Gene Hs.513632

genes like me logo Genes that share expressions with COQ9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for COQ9 Gene

Orthologs for COQ9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COQ9 35
  • 98.84 (n)
  • 98.42 (a)
COQ9 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COQ9 35
  • 88.01 (n)
  • 88.33 (a)
COQ9 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COQ9 35
  • 90.73 (n)
  • 91.69 (a)
COQ9 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coq9 35
  • 89.6 (n)
  • 92.6 (a)
Coq9 16
Coq9 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ9 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COQ9 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coq9 35
  • 89.14 (n)
  • 90.32 (a)
chicken
(Gallus gallus)
Aves COQ9 35
  • 71.34 (n)
  • 71.34 (a)
COQ9 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COQ9 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coq9 35
  • 65.92 (n)
  • 67.41 (a)
zebrafish
(Danio rerio)
Actinopterygii coq9 35
  • 64.33 (n)
  • 62.46 (a)
coq9 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004842 35
  • 47.33 (n)
  • 44.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30493 35
  • 48.39 (n)
  • 37.79 (a)
CG30493 36
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL147W 35
  • 44.8 (n)
  • 31.18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ9 35
  • 38.41 (n)
  • 27.17 (a)
COQ9 36
  • 24 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12320g 35
  • 40.42 (n)
  • 34.48 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G19140 35
  • 44.64 (n)
  • 32.16 (a)
rice
(Oryza sativa)
Liliopsida Os03g0405100 35
  • 48.74 (n)
  • 38.19 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02403 35
  • 43.58 (n)
  • 34.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq9 35
  • 45.6 (n)
  • 38.65 (a)
Species with no ortholog for COQ9:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COQ9 Gene

ENSEMBL:
Gene Tree for COQ9 (if available)
TreeFam:
Gene Tree for COQ9 (if available)

Paralogs for COQ9 Gene

No data available for Paralogs for COQ9 Gene

Variants for COQ9 Gene

Sequence variations from dbSNP and Humsavar for COQ9 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs172782 -- 57,453,934(+) gtcaa(A/G)gtggt intron-variant
rs183421 -- 57,454,297(+) taagt(A/G)catca intron-variant
rs223862 -- 57,449,955(+) TGAAC(A/G)TAGAA intron-variant
rs223863 -- 57,451,005(+) TCTCT(A/G)TTGAA intron-variant
rs223864 Benign 57,451,068(+) GTGCC(A/G)CGTGC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for COQ9 Gene

Variant ID Type Subtype PubMed ID
nsv906724 CNV Loss 21882294
nsv833245 CNV Loss 17160897

Relevant External Links for COQ9 Gene

HapMap Linkage Disequilibrium report
COQ9
Human Gene Mutation Database (HGMD)
COQ9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ9 Gene

Disorders for COQ9 Gene

(1) OMIM Diseases for COQ9 Gene (612837)

UniProtKB/Swiss-Prot

COQ9_HUMAN
  • Coenzyme Q10 deficiency, primary, 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. {ECO:0000269 PubMed:19375058}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COQ9

Genetic Association Database (GAD)
COQ9
Human Genome Epidemiology (HuGE) Navigator
COQ9
genes like me logo Genes that share disorders with COQ9: view

Publications for COQ9 Gene

  1. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (PMID: 19375058) Duncan A.J. … Rahman S. (Am. J. Hum. Genet. 2009) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  3. Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. (PMID: 25339443) Lohman D.C. … Pagliarini D.J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 4
  4. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 3 4
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4

Products for COQ9 Gene

Sources for COQ9 Gene

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