COQ5 (coenzyme Q5, methyltransferase)

2014-11-01 Affiliation

Identity

HGNC

COQ5

LOCATION

12q24.31

LOCUSID

84274

ALIAS

COQ10D9

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 84274
MIM: 616359
HGNC: 28722
Ensembl: ENSG00000110871

Variants:

dbSNP: 84274
ClinVar: 84274
TCGA: ENSG00000110871
COSMIC: COQ5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110871	ENST00000288532	Q5HYK3
ENSG00000110871	ENST00000445328	B4DP72
ENSG00000110871	ENST00000547736	F8VVD5
ENSG00000110871	ENST00000547943	F8VVW7
ENSG00000110871	ENST00000551769	F8VP53
ENSG00000110871	ENST00000552443	F8VVX6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Ubiquinone and other terpenoid-quinone biosynthesis	KEGG	ko00130
Ubiquinone and other terpenoid-quinone biosynthesis	KEGG	hsa00130
Metabolic pathways	KEGG	hsa01100
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinone	KEGG	M00128
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinone	KEGG	hsa_M00128
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Ubiquinol biosynthesis	REACTOME	R-HSA-2142789

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
29044765	2018	A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.	28
29044765	2018	A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.	28
27155576	2016	Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency.	10
27155576	2016	Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency.	10
23354120	2013	Detection of suppressed maturation of the human COQ5 protein in the mitochondria following mitochondrial uncoupling by an antibody recognizing both precursor and mature forms of COQ5.	8
23354120	2013	Detection of suppressed maturation of the human COQ5 protein in the mitochondria following mitochondrial uncoupling by an antibody recognizing both precursor and mature forms of COQ5.	8
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20

Citation

Dessen P

COQ5 (coenzyme Q5, methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62027/coq5-(coenzyme-q5-methyltransferase)