COQ7 (coenzyme Q7, hydroxylase)

Gene

• Entrez ID: 10229
• Gene name: Coenzyme Q7, hydroxylase
• Gene symbol: COQ7
• Synonyms: CAT5, CLK-1, CLK1, COQ10D8
• Chromosome: 16
• Chromosome location: 16p12.3
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs864321686	T>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT615800	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT615801	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615802	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615803	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT615804	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT615805	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615806	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT615806	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT615807	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT615807	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT615808	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT615808	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT615809	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT615809	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT615810	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT615810	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT615811	hsa-miR-520h	HITS-CLIP	23824327
MIRT615812	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT615813	hsa-miR-3973	HITS-CLIP	23824327
MIRT615814	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT620190	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT620191	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT620192	hsa-miR-3176	HITS-CLIP	23824327
MIRT620193	hsa-miR-193b-3p	HITS-CLIP	23824327
MIRT620194	hsa-miR-193a-3p	HITS-CLIP	23824327
MIRT710852	hsa-miR-384	HITS-CLIP	19536157
MIRT710853	hsa-miR-3685	HITS-CLIP	19536157
MIRT710854	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT710855	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT710856	hsa-miR-137	HITS-CLIP	19536157
MIRT710857	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT710858	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT710859	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT710860	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT714271	hsa-miR-3187-3p	HITS-CLIP	19536157
MIRT714272	hsa-miR-4435	HITS-CLIP	19536157
MIRT714273	hsa-miR-588	HITS-CLIP	19536157
MIRT714274	hsa-miR-4701-5p	HITS-CLIP	19536157
MIRT714275	hsa-miR-548s	HITS-CLIP	19536157
MIRT714276	hsa-miR-6071	HITS-CLIP	19536157
MIRT714277	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT714278	hsa-miR-3671	HITS-CLIP	19536157
MIRT714279	hsa-miR-3926	HITS-CLIP	19536157
MIRT714280	hsa-miR-216a-5p	HITS-CLIP	19536157
MIRT761753	hsa-miR-1267	PAR-CLIP	27292025
MIRT762408	hsa-miR-1304-3p	PAR-CLIP	27292025
MIRT762616	hsa-miR-1-3p	PAR-CLIP	27292025
MIRT763733	hsa-miR-206	PAR-CLIP	27292025
MIRT766249	hsa-miR-3650	PAR-CLIP	27292025
MIRT766275	hsa-miR-3652	PAR-CLIP	27292025
MIRT766499	hsa-miR-3664-5p	PAR-CLIP	27292025
MIRT766707	hsa-miR-367-5p	PAR-CLIP	27292025
MIRT767055	hsa-miR-3689d	PAR-CLIP	27292025
MIRT768856	hsa-miR-4423-5p	PAR-CLIP	27292025
MIRT768910	hsa-miR-4430	PAR-CLIP	27292025
MIRT770538	hsa-miR-4639-3p	PAR-CLIP	27292025
MIRT771141	hsa-miR-4695-3p	PAR-CLIP	27292025
MIRT772947	hsa-miR-5007-5p	PAR-CLIP	27292025
MIRT775813	hsa-miR-6128	PAR-CLIP	27292025
MIRT775982	hsa-miR-613	PAR-CLIP	27292025
MIRT776226	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT776520	hsa-miR-6501-5p	PAR-CLIP	27292025
MIRT779186	hsa-miR-6787-3p	PAR-CLIP	27292025
MIRT779326	hsa-miR-6794-3p	PAR-CLIP	27292025
MIRT781507	hsa-miR-7151-3p	PAR-CLIP	27292025
MIRT781711	hsa-miR-744-3p	PAR-CLIP	27292025
MIRT781800	hsa-miR-7641	PAR-CLIP	27292025

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25339443, 27499296
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0006744	Process	Ubiquinone biosynthetic process	IBA	21873635
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0008340	Process	Determination of adult lifespan	IBA	21873635
GO:0008682	Function	2-octoprenyl-3-methyl-6-methoxy-1,4-benzoquinone hydroxylase activity	IBA	21873635
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0016709	Function	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:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IBA	21873635

Other IDs

• MIM: 601683
• HGNC: 2244
• e!Ensembl: ENSG00000167186

Protein

• UniProt ID: Q99807
• Protein name: 5-demethoxyubiquinone hydroxylase, mitochondrial (DMQ hydroxylase) (EC 1.14.99.60) (Timing protein clk-1 homolog) (Ubiquinone biosynthesis monooxygenase COQ7)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03232	COQ7	48 → 217	Ubiquinone biosynthesis protein COQ7	Domain

• Sequence:

  MSCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGE
  YGANRIYAGQMAVLGRTSVGPVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGF
  ALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEEDPEKYEELLQLIKKFRDEELE
  HHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL

• Sequence length: 217

Pathways

KEGG:

Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways

Associated diseases

Disease name	Disease term	References
	COENZYME Q10 DEFICIENCY, PRIMARY, 8	28409910, 26084283, 30369941
	Congenital hypoplasia of lung
	Global developmental delay
	Hypertensive disease
	Left Ventricular Hypertrophy
	Clumsiness - motor delay
	Polyneuropathy
	Renal Cell Dysplasia
	Renal dysplasia