COQ3 (coenzyme Q3, methyltransferase)

Gene

• Entrez ID: 51805
• Gene name: Coenzyme Q3, methyltransferase
• Gene symbol: COQ3
• Synonyms (NCBI Gene): DHHBMT, DHHBMTASE, UG0215E05, bA9819.1
• Chromosome: 6
• Chromosome location: 6q16.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024878	hsa-miR-215-5p	Microarray	19074876
MIRT026203	hsa-miR-192-5p	Microarray	19074876
MIRT051270	hsa-miR-16-5p	CLASH	23622248
MIRT2204049	hsa-miR-433	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10777520
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	27499296
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006071	Process	Glycerol metabolic process	IGI	10777520
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	38425362
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IGI	10777520
GO:0006744	Process	Ubiquinone biosynthetic process	NAS	28927698
GO:0006744	Process	Ubiquinone biosynthetic process	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008171	Function	O-methyltransferase activity	IGI	10777520
GO:0010420	Function	Polyprenyldihydroxybenzoate methyltransferase activity	IBA
GO:0010420	Function	Polyprenyldihydroxybenzoate methyltransferase activity	IDA	38425362
GO:0010420	Function	Polyprenyldihydroxybenzoate methyltransferase activity	IEA
GO:0010420	Function	Polyprenyldihydroxybenzoate methyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0032259	Process	Methylation	IEA
GO:0061542	Function	3-demethylubiquinol 3-O-methyltransferase activity	IBA
GO:0061542	Function	3-demethylubiquinol 3-O-methyltransferase activity	IDA	10777520
GO:0061542	Function	3-demethylubiquinol 3-O-methyltransferase activity	IEA
GO:0061542	Function	3-demethylubiquinol 3-O-methyltransferase activity	TAS
GO:0110142	Component	Ubiquinone biosynthesis complex	IPI	27499296
GO:0120537	Function	3-demethylubiquinone 3-O-methyltransferase activity	IDA	38425362
GO:0120537	Function	3-demethylubiquinone 3-O-methyltransferase activity	IEA

Other IDs

• MIM: 605196
• HGNC: 18175
• e!Ensembl: ENSG00000132423

Protein

• UniProt ID: Q9NZJ6
• Protein name: Ubiquinone biosynthesis O-methyltransferase, mitochondrial (3-demethylubiquinol 3-O-methyltransferase) (EC 2.1.1.64) (3-demethylubiquinone 3-O-methyltransferase) (EC 2.1.1.-) (Polyprenyldihydroxybenzoate methyltransferase) (EC 2.1.1.114)
• Protein function: O-methyltransferase required for two non-consecutive steps during ubiquinone biosynthesis (By similarity) (PubMed:10777520, PubMed:38425362). Catalyzes the 2 O-methylation of 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoic acid into 4-hydroxy-3-me
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08241	Methyltransf_11	151 → 250	Methyltransferase domain	Domain

• Sequence:

  MWSGRKLGSSGGWFLRVLGPGGCNTKAARPLISSAVYVKNQLSGTLQIKPGVFNEYRTIW
  FKSYRTIFSCLNRIKSFRYPWARLYSTSQTTVDSGEVKTFLALAHKWWDEQGVYAPLHSM
  NDLRVPFIRDNLLKTIPNHQPGKPLLGMKILDVGCGGGLLTEPLGRLGASVIGIDPVDEN
  IKTAQCHKSFDPVLDKRIEYRVCSLEEIVEETAETFDAVVASEVVEHVIDLETFLQCCCQ
  VLKPGGSLFITTINKTQLSYALGIVFSEQIASIVPKGTHTWEKFVSPETLESILESNGLS
  VQTVVGMLYNPFSGYWHWSENTSLNYAAYAVKSRVQEHPASAEFVLKGETEELQANACTN
  PAVHEKLKK

• Sequence length: 369

Pathways

KEGG:

Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Ubiquinol biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations