COQ7 (coenzyme Q7, hydroxylase)

2014-11-01  

Identity

HGNC
LOCATION
16p12.3
LOCUSID
ALIAS
CAT5,CLK-1,CLK1,COQ10D8

Other Information

Locus ID:

NCBI: 10229
MIM: 601683
HGNC: 2244
Ensembl: ENSG00000167186

Variants:

dbSNP: 10229
ClinVar: 10229
TCGA: ENSG00000167186
COSMIC: COQ7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167186ENST00000321998Q99807
ENSG00000167186ENST00000544894Q99807
ENSG00000167186ENST00000561858H3BTN8
ENSG00000167186ENST00000566049H3BS11
ENSG00000167186ENST00000566110H3BSZ3
ENSG00000167186ENST00000568985Q99807
ENSG00000167186ENST00000569127H3BP28
ENSG00000167186ENST00000569312I3L1T0

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
Metabolic pathwaysKEGGhsa01100
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinoneKEGGM00128
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinoneKEGGhsa_M00128
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Ubiquinol biosynthesisREACTOMER-HSA-2142789

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
253394432014Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.34
189270742009The anti-neurodegeneration drug clioquinol inhibits the aging-associated protein CLK-1.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
284099102017Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.9
191351462009Superoxide dismutase is regulated by LAMMER kinase in Drosophila and human cells.4

Citation

Dessen P

COQ7 (coenzyme Q7, hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62029/coq7