COQ5 - coenzyme Q5, methyltransferase Gene

Also Known as COQ10D9

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 84274

About COQ5

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,503,279-120,529,158 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 15.5), liver (RPKM 13.7) and 25 other tissues.

Summary

Enables 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial matrix. Part of protein-containing complex. Colocalizes with mitochondrial inner membrane. Implicated in primary coenzyme Q10 deficiency 9. [provided by Alliance of Genome Resources, Apr 2022]

COQ5 Products (1)

mRNA	Protein	Name
NM_032314.4	NP_115690.3	2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity	IDA IDA: Inferred from direct assay	25152161	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25152161	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in methylation	IDA IDA: Inferred from direct assay	25152161	GOA
involved in ubiquinone biosynthetic process	IGI IGI: Inferred from genetic interaction	25152161	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
colocalizes with mitochondrial inner membrane	IDA IDA: Inferred from direct assay	25152161	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	27499296	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	25152161	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	25152161	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

COQ5 Protein Structure

Ubie_methyltran

0
100
200
300
327 a.a.

Protein Preferred Names	Protein Names
2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial	coenzyme Q5 homolog, methyltransferase

COQ5 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	COQ5	Q5HYK3	COQ3	Homo sapiens	Q9NZJ6	Pull Down	27499296
Intra	COQ5	Q5HYK3	COQ3	Homo sapiens	Q9NZJ6	Anti Tag CoIP	27499296
Intra	COQ5	Q5HYK3	COQ7	Homo sapiens	Q99807	Anti Tag CoIP	27499296
Intra	COQ5	Q5HYK3	COQ7	Homo sapiens	Q99807	Pull Down	27499296
Intra	COQ5	Q5HYK3	COQ4	Homo sapiens	Q9Y3A0	Pull Down	27499296
Intra	COQ5	Q5HYK3	COQ6	Homo sapiens	Q9Y2Z9	Anti Tag CoIP	27499296
Intra	COQ5	Q5HYK3	COQ6	Homo sapiens	Q9Y2Z9	Pull Down	27499296
Intra	COQ5	Q5HYK3	COQ9	Homo sapiens	O75208	Pull Down	27499296
Intra	COQ5	Q5HYK3	COQ9	Homo sapiens	O75208	Anti Tag CoIP	27499296

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Coenzyme Q10 Deficiency, Primary, 9	COQ10D9 Primary Coenzyme Q10 Deficiency 9
Coenzyme Q10 Deficiency, Primary, 4	Scar9 Spinocerebellar Ataxia, Autosomal Recessive 9 Autosomal Recessive Ataxia Due To Ubiquinone Deficiency COQ10D4 Arca2 Autosomal Recessive Cerebellar Ataxia Type 2 Primary Coenzyme Q10 Deficiency 4 Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 9 Autosomal Recessive Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 9 Coenzyme Q10 Deficiency, Primary, Type 4 Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
Immunodeficiency 24	Severe Combined Immunodeficiency Due To Ctps1 Deficiency IMD24 Scid Due To Ctps1 Deficiency Immunodeficiency, Type 24
Cardiomyopathy, Dilated, 1hh	Dilated Cardiomyopathy 1hh CMD1HH Cardiomyopathy, Dilated 1hh Cardiomyopathy, Dilated, Type 1hh
Nephrotic Syndrome, Type 9	NPHS9 Nephrotic Syndrome Type 9 Nephrotic Syndrome 9
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
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Spondyloepiphyseal Dysplasia, Nishimura Type	SEDN Spondyloepiphyseal Dysplasia Nishimura Type
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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03041	COQ5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22130	Coq5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28652	Coq5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	COQ5	VGNC	VGNC:27613
Felis catus	COQ5	VGNC	VGNC:80434
Mus musculus	COQ5	MGD	MGI:1098643
Rattus norvegicus	COQ5	RGD	RGD:1310857
Canis familiaris	COQ5	VGNC	VGNC:39520
Macaca mulatta	COQ5	VGNC	VGNC:81376
Others	COQ5	NCBI