COQ3 - coenzyme Q3, methyltransferase Gene

Homo sapiens

Also known as DHHBMT; bA9819.1; DHHBMTASE; UG0215E05

Gene ID: 51805 | Gene type: protein coding

About COQ3

Cytogenetic location: 6q16.2 Genomic coordinates (GRCh38): 6:99,369,401-99,394,195 (from NCBI)

This gene has 3 transcripts (splice variants) and 203 orthologues. Ubiquitous expression in heart (RPKM 8.1), brain (RPKM 3.9) and 25 other tissues.

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 head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This Enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]

COQ3 Products(1)

mRNA	Protein	Name
NM_017421.4	NP_059117.3	ubiquinone biosynthesis O-methyltransferase, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3-demethylubiquinol-n 3-O-methyltransferase activity	IDA IDA: Inferred from direct assay	10777520	GOA
enables O-methyltransferase activity	IGI IGI: Inferred from genetic interaction	10777520	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycerol metabolic process	IGI IGI: Inferred from genetic interaction	10777520	GOA
involved in ubiquinone biosynthetic process	IGI IGI: Inferred from genetic interaction	10777520	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	27499296	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	10777520	GOA
part of ubiquinone biosynthesis complex	IPI IPI: Inferred from physical interaction	27499296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COQ3 Protein Structure

Methyltransf_23

0
100
200
300
369 a.a.

Protein Preferred Names

Protein Names

ubiquinone biosynthesis O-methyltransferase, mitochondrial

2-polyprenyl-6-hydroxyphenol methylase

COQ3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	COQ3	Q9NZJ6	COQ7	Homo sapiens	Q99807	Anti Tag CoIP	27499296
Intra	COQ3	Q9NZJ6	COQ7	Homo sapiens	Q99807	Pull Down	27499296
Intra	COQ3	Q9NZJ6	NDRG4	Homo sapiens	Q9ULP0-2	Validated Y2H	32296183
Intra	COQ3	Q9NZJ6	COQ4	Homo sapiens	Q9Y3A0	Pull Down	27499296
Intra	COQ3	Q9NZJ6	COQ5	Homo sapiens	Q5HYK3	Pull Down	27499296
Intra	COQ3	Q9NZJ6	COQ5	Homo sapiens	Q5HYK3	Anti Tag CoIP	27499296
Intra	COQ3	Q9NZJ6	NFS1	Homo sapiens	Q9Y697	Anti Tag CoIP	27499296
Intra	COQ3	Q9NZJ6	COQ6	Homo sapiens	Q9Y2Z9	Pull Down	27499296
Intra	COQ3	Q9NZJ6	COQ6	Homo sapiens	Q9Y2Z9	Anti Tag CoIP	27499296

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Coenzyme Q10 Deficiency, Primary, 6

Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness	COQ10D6
Primary Coenzyme Q10 Deficiency 6	Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss
Srns With Sensorineural Deafness	Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness
Coenzyme Q10 Deficiency, Primary, Type 6

Coenzyme Q10 Deficiency Disease

Coenzyme Q10 Deficiency	Coq10 Deficiency
Primary Coenzyme Q10 Deficiency	Coenzyme Q Deficiency
Coq Deficiency	Primary Coq10 Deficiency
Ubiquinone Deficiency	Coenzyme Q10 Deficiency, Primary
Coq10 Deficiency, Primary

Cleft Soft Palate

Cleft Velum	Cleft Velum Palatinum
Soft Cleft Palate	Soft Palate Perforation

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03039	COQ3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COQ3	RGD	RGD:2380
Canis familiaris	COQ3	VGNC	VGNC:39518
Felis catus	COQ3	VGNC	VGNC:61095
Bos taurus	COQ3	VGNC	VGNC:27612
Mus musculus	COQ3	MGD	MGI:101813
Macaca mulatta	COQ3	VGNC	VGNC:104371

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