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Aliases for COQ7 Gene

Aliases for COQ7 Gene

  • Coenzyme Q7, Hydroxylase 2 3 5
  • Ubiquinone Biosynthesis Monooxygenase COQ7 3 4
  • Timing Protein Clk-1 Homolog 3 4
  • DMQ Hydroxylase 3 4
  • 5-Demethoxyubiquinone Hydroxylase, Mitochondrial 3
  • Ubiquinone Biosynthesis Protein COQ7 Homolog 3
  • Coenzyme Q Biosynthesis Protein 7 Homolog 3
  • Coenzyme Q7 Homolog, Ubiquinone (Yeast) 2
  • COQ7 Coenzyme Q, 7 Homolog Ubiquinone 3
  • Coenzyme Q, 7 (Rat, Yeast) Homolog 2
  • 5-Demethoxyubiquinone Hydroxylase 2
  • Coenzyme Q7 Homolog, Ubiquinone 3
  • Placental Protein KG-20 3
  • EC 1.14.13.- 4
  • COQ10D8 3
  • CLK-1 3
  • CAT5 3
  • CLK1 3

External Ids for COQ7 Gene

Previous GeneCards Identifiers for COQ7 Gene

  • GC16P018569
  • GC16P019006
  • GC16P019045
  • GC16P018986
  • GC16P017616

Summaries for COQ7 Gene

Entrez Gene Summary for COQ7 Gene

  • The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for COQ7 Gene

COQ7 (Coenzyme Q7, Hydroxylase) is a Protein Coding gene. Diseases associated with COQ7 include Coenzyme Q10 Deficiency, Primary, 8. Among its related pathways are Metabolism and Ubiquinol biosynthesis.

UniProtKB/Swiss-Prot for COQ7 Gene

  • Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner.

Gene Wiki entry for COQ7 Gene

Additional gene information for COQ7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ7 Gene

Genomics for COQ7 Gene

GeneHancer (GH) Regulatory Elements for COQ7 Gene

Promoters and enhancers for COQ7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J019066 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 661.6 +0.2 231 2.6 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 COQ7 LOC102723385 ENSG00000261357 TMC7 GC16M019068
GH16J019110 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.6 +45.9 45869 6 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SYT17 ITPRIPL2 ENSG00000261427 ENSG00000278389 COQ7 RNU4-46P GC16P019109
GH16J018786 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 9.7 -278.6 -278618 5 MLX ZFP64 YBX1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RPS15A ARL6IP1 CCP110 COQ7 ENSG00000205746 GC16M018782 ENSG00000260342
GH16J019554 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 +488.0 488031 2.6 HDGF PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 VPS35L RPS15A CCP110 ENSG00000263253 ENSG00000260017 ENSG00000263237 COQ7 TMC5 KNOP1 GDE1
GH16J019116 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 11.2 +51.1 51069 3.8 HDGF PKNOX1 ARNT FEZF1 POLR2B ARID2 ZFP91 FOS RUNX3 RXRA SYT17 COQ7 ENSG00000261427 ITPRIPL2 GC16P019121 ENSG00000261759 GC16P019109
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COQ7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COQ7 gene promoter:

Genomic Locations for COQ7 Gene

Genomic Locations for COQ7 Gene
chr16:19,067,595-19,080,095
(GRCh38/hg38)
Size:
12,501 bases
Orientation:
Plus strand
chr16:19,078,917-19,091,417
(GRCh37/hg19)

Genomic View for COQ7 Gene

Genes around COQ7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ7 Gene

Proteins for COQ7 Gene

  • Protein details for COQ7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99807-COQ7_HUMAN
    Recommended name:
    5-demethoxyubiquinone hydroxylase, mitochondrial
    Protein Accession:
    Q99807
    Secondary Accessions:
    • B2RDA9
    • Q9BTT7
    • Q9H0T5
    • Q9UEW5
    • Q9UNR5

    Protein attributes for COQ7 Gene

    Size:
    217 amino acids
    Molecular mass:
    24277 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity). Interacts with COQ8B and COQ6 (PubMed:24270420). Interacts with COQ9 (PubMed:25339443).

    Alternative splice isoforms for COQ7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ7 Gene

Post-translational modifications for COQ7 Gene

  • Ubiquitination at Lys85
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COQ7 Gene

Domains & Families for COQ7 Gene

Gene Families for COQ7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for COQ7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99807

UniProtKB/Swiss-Prot:

COQ7_HUMAN :
  • Belongs to the COQ7 family.
Family:
  • Belongs to the COQ7 family.
genes like me logo Genes that share domains with COQ7: view

Function for COQ7 Gene

Molecular function for COQ7 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner.
GENATLAS Biochemistry:
coenzyme Q7 (rat,yeast) homolog C elegans longevity gene clk1 ortholog,expressed in heart and skeletal muscle,likely localized in the mitochondrial inner membrane

Enzyme Numbers (IUBMB) for COQ7 Gene

Phenotypes From GWAS Catalog for COQ7 Gene

Gene Ontology (GO) - Molecular Function for COQ7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005515 protein binding IPI 25339443
GO:0016491 oxidoreductase activity IEA --
GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COQ7: view
genes like me logo Genes that share phenotypes with COQ7: view

Human Phenotype Ontology for COQ7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COQ7 Gene

MGI Knock Outs for COQ7:

Animal Model Products

miRNA for COQ7 Gene

miRTarBase miRNAs that target COQ7

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for COQ7 Gene

Localization for COQ7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ7 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COQ7 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COQ7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0031314 extrinsic component of mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with COQ7: view

Pathways & Interactions for COQ7 Gene

genes like me logo Genes that share pathways with COQ7: view

Pathways by source for COQ7 Gene

UniProtKB/Swiss-Prot Q99807-COQ7_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process IEA --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with COQ7: view

No data available for SIGNOR curated interactions for COQ7 Gene

Drugs & Compounds for COQ7 Gene

(3) Drugs for COQ7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(9) Additional Compounds for COQ7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hexaprenyl-3-methyl-5-hydroxy-6-methoxy-1,4-benzoquinone
2-Hexaprenyl-3-methyl-6-methoxy-1,4 benzoquinone
  • 2-Hexaprenyl-3-methyl-6-methoxy-1,4-benzoquinone
2-Polyprenyl-3-methyl-5-hydroxy-6-methoxy-1,4-benzoquinone
2-Polyprenyl-3-methyl-6-methoxy-1,4-benzoquinone
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
genes like me logo Genes that share compounds with COQ7: view

Transcripts for COQ7 Gene

Unigene Clusters for COQ7 Gene

Coenzyme Q7 homolog, ubiquinone (yeast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COQ7 Gene

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

Relevant External Links for COQ7 Gene

GeneLoc Exon Structure for
COQ7
ECgene alternative splicing isoforms for
COQ7

Expression for COQ7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COQ7 Gene

Protein differential expression in normal tissues from HIPED for COQ7 Gene

This gene is overexpressed in Tonsil (11.3), Heart (6.6), and Bone (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COQ7 Gene



Protein tissue co-expression partners for COQ7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COQ7 Gene:

COQ7

SOURCE GeneReport for Unigene cluster for COQ7 Gene:

Hs.157113

mRNA Expression by UniProt/SwissProt for COQ7 Gene:

Q99807-COQ7_HUMAN
Tissue specificity: Expressed dominantly in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for COQ7 Gene

  • Nervous system(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with COQ7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COQ7 Gene

Orthologs for COQ7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COQ7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COQ7 34 33
  • 98.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COQ7 34 33
  • 88.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COQ7 34 33
  • 87.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Coq7 16 34 33
  • 81.41 (n)
rat
(Rattus norvegicus)
Mammalia Coq7 33
  • 81.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COQ7 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ7 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves COQ7 34 33
  • 68.39 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coq7 33
  • 65.38 (n)
Str.14928 33
zebrafish
(Danio rerio)
Actinopterygii coq7 34 33
  • 64.96 (n)
OneToOne
Dr.19634 33
fruit fly
(Drosophila melanogaster)
Insecta COQ7 34 35 33
  • 59.02 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea clk-1 34 35 33
  • 58.53 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAT5 36 34 33
  • 53.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02421g 33
  • 53.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL162C 33
  • 52.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2575 34
  • 59 (a)
OneToOne
Cin.7697 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq7 33
  • 54.35 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03957 33
  • 52.73 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7697 33
Species where no ortholog for COQ7 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COQ7 Gene

ENSEMBL:
Gene Tree for COQ7 (if available)
TreeFam:
Gene Tree for COQ7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COQ7: view image

Paralogs for COQ7 Gene

No data available for Paralogs for COQ7 Gene

Variants for COQ7 Gene

Sequence variations from dbSNP and Humsavar for COQ7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs864321686 pathogenic, Coenzyme Q10 deficiency, primary, 8, Coenzyme Q10 deficiency, primary, 8 (COQ10D8) [MIM:616733] 19,075,775(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs77337400 likely-benign, not provided 19,071,990(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000039983 -- 19,070,470(+) C/A intron_variant
rs1000277923 -- 19,066,539(+) A/C upstream_transcript_variant
rs1000420881 -- 19,081,192(+) G/C genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COQ7 Gene

Variant ID Type Subtype PubMed ID
dgv2787n100 CNV gain 25217958
esv2758634 CNV gain+loss 17122850
esv34419 CNV gain 17911159
esv3570409 CNV gain 25503493
nsv103187 CNV deletion 16902084
nsv1045019 CNV gain 25217958
nsv1051531 CNV gain 25217958
nsv436835 CNV insertion 17901297
nsv571579 CNV gain 21841781
nsv571582 CNV gain 21841781

Variation tolerance for COQ7 Gene

Residual Variation Intolerance Score: 85.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COQ7 Gene

Human Gene Mutation Database (HGMD)
COQ7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COQ7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ7 Gene

Disorders for COQ7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COQ7 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 8
  • coq10d8
- elite association - COSMIC cancer census association via MalaCards
Search COQ7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COQ7_HUMAN
  • Coenzyme Q10 deficiency, primary, 8 (COQ10D8) [MIM:616733]: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment. {ECO:0000269 PubMed:26084283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COQ7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COQ7: view

No data available for Genatlas for COQ7 Gene

Publications for COQ7 Gene

  1. Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. (PMID: 10501970) Vajo Z … Francomano CA (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 3 4 22 58
  2. Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human. (PMID: 10373327) Asaumi S … Shirasawa T (Genomics 1999) 3 4 22 58
  3. Structural and functional conservation of the Caenorhabditis elegans timing gene clk-1. (PMID: 9020081) Ewbank JJ … Hekimi S (Science (New York, N.Y.) 1997) 2 3 4 58
  4. Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. (PMID: 25339443) Lohman DC … Pagliarini DJ (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for COQ7 Gene

Sources for COQ7 Gene

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