COQ3 - coenzyme Q3, methyltransferase Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51805

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 References 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 References 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 References 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

Methyltransf_23: Methyltransferase domain (130 - 303)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03039 COQ3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22129 Coq3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28651 Coq3 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others COQ3 NCBI