• Gene id: 51805

Gene Summary

• Gene Symbol: COQ3   Gene   UCSC   Ensembl
• Aliases: DHHBMT, DHHBMTASE, UG0215E05, bA9819.1
• Gene name: coenzyme Q3, methyltransferase
• Alternate names: ubiquinone biosynthesis O-methyltransferase, mitochondrial, 2-polyprenyl-6-hydroxyphenol methylase, 2-polyprenyl-6-hydroxyphenyl methylase, 3,4-dihydroxy-5-hexaprenylbenzoate methyltransferase, 3-demethylubiquinol 3-O-methyltransferase, 3-demethylubiquinone-10,
• Gene location: 6q16.2 (99394222: 99369400)     Exons: 8     NC_000006.12
• Gene summary(Entrez): Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone hea
• OMIM: 605196

Protein Summary

• Protein general information: Q9NZJ6  
  • Name: Ubiquinone biosynthesis O methyltransferase, mitochondrial (3 demethylubiquinol 3 O methyltransferase) (EC 2.1.1.64) (Polyprenyldihydroxybenzoate methyltransferase) (EC 2.1.1.114)
  • Length: 369  
  • Mass: 41054
• Sequence:

  MWSGRKLGSSGGWFLRVLGPGGCNTKAARPLISSAVYVKNQLSGTLQIKPGVFNEYRTIWFKSYRTIFSCLNRIK
  SFRYPWARLYSTSQTTVDSGEVKTFLALAHKWWDEQGVYAPLHSMNDLRVPFIRDNLLKTIPNHQPGKPLLGMKI
  LDVGCGGGLLTEPLGRLGASVIGIDPVDENIKTAQCHKSFDPVLDKRIEYRVCSLEEIVEETAETFDAVVASEVV
  EHVIDLETFLQCCCQVLKPGGSLFITTINKTQLSYALGIVFSEQIASIVPKGTHTWEKFVSPETLESILESNGLS
  VQTVVGMLYNPFSGYWHWSENTSLNYAAYAVKSRVQEHPASAEFVLKGETEELQANACTNPAVHEKLKK

• Structural information:
  • Interpro: IPR029063  IPR010233  
  • STRING: ENSP00000254759
• Other Databases: GeneCards:  COQ3  Malacards:  COQ3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008425	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0008689	3-demethylubiquinone-9 3-O-methyltransferase activity	IEA	molecular function
GO:0004395	hexaprenyldihydroxybenzoate methyltransferase activity	IEA	molecular function
GO:0010420	3,4-dihydroxy-5-polyprenylbenzoic acid O-methyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006744	ubiquinone biosynthetic process	TAS	biological process
GO:0044596	3-demethylubiquinol-10 3-O-methyltransferase activity	TAS	molecular function
GO:0044595	decaprenyldihydroxybenzoate methyltransferase activity	TAS	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: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:0032259	methylation	IEA	biological process
GO:0010795	regulation of ubiquinone biosynthetic process	IEA	biological process
GO:0004395	hexaprenyldihydroxybenzoate methyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0044595	decaprenyldihydroxybenzoate methyltransferase activity	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0031314	extrinsic component of mitochondrial inner membrane	IEA	cellular component
GO:0044596	3-demethylubiquinol-10 3-O-methyltransferase activity	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0006744	ubiquinone biosynthetic process	IGI	biological process
GO:0006071	glycerol metabolic process	IGI	biological process
GO:0008171	O-methyltransferase activity	IGI	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881