• Gene id: 10229

Gene Summary

• Gene Symbol: COQ7   Gene   UCSC   Ensembl
• Aliases: CAT5, CLK-1, CLK1, COQ10D8
• Gene name: coenzyme Q7, hydroxylase
• Alternate names: 5-demethoxyubiquinone hydroxylase, mitochondrial, COQ7 coenzyme Q, 7 homolog ubiquinone, DMQ hydroxylase, coenzyme Q biosynthesis protein 7 homolog, coenzyme Q7 homolog, ubiquinone, placental protein KG-20, timing protein clk-1 homolog, ubiquinone biosynthesis m,
• Gene location: 16p12.3 (19067594: 19080094)     Exons: 10     NC_000016.10
• Gene summary(Entrez): 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. Alternati
• OMIM: 614396

Protein Summary

• Protein general information: Q99807  
  • Name: 5 demethoxyubiquinone hydroxylase, mitochondrial (DMQ hydroxylase) (EC 1.14.13. ) (Timing protein clk 1 homolog) (Ubiquinone biosynthesis monooxygenase COQ7)
  • Length: 217  
  • Mass: 24277
  • Tissue specificity: Expressed dominantly in heart and skeletal muscle.
• Sequence:

  MSCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLG
  RTSVGPVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYN
  NQIRTLMEEDPEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL

• Structural information:
  • Interpro: IPR009078  IPR011566  
  • CDD: cd01042
  • DIP: 62092
  • STRING: ENSP00000322316
• Other Databases: GeneCards:  COQ7  Malacards:  COQ7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008682	2-octoprenyl-3-methyl-6-methoxy-1,4-benzoquinone hydroxylase activity	IBA	molecular function
GO:0008340	determination of adult lifespan	IBA	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0006744	ubiquinone biosynthetic process	IBA	biological process
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
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	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0031314	extrinsic component of mitochondrial inner membrane	IEA	cellular component
GO:0006744	ubiquinone biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00130	Ubiquinone and other terpenoid-quinone biosynthesis

Diseases

Associated diseases	References
Coenzyme Q10 deficiency	KEGG:H00999
Coenzyme Q10 deficiency	KEGG:H00999
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray