COQ7

Protein identityUniProt · HPA

UniProt accession

Q99807

Gene

COQ7

Ensembl

ENSG00000167186

Chromosome

16

Canonical length

217 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

217 residues, UniProt reviewed canonical sequence.

>Q99807|COQ7
     1  MSCAGAAAAP RLWRLRPGAR RSLSAYGRRT SVRFRSSGMT LDNISRAAVD RIIRVDHAGE
    61  YGANRIYAGQ MAVLGRTSVG PVIQKMWDQE KDHLKKFNEL MVTFRVRPTV LMPLWNVLGF
   121  ALGAGTALLG KEGAMACTVA VEESIAHHYN NQIRTLMEED PEKYEELLQL IKKFRDEELE
   181  HHDIGLDHDA ELAPAYAVLK SIIQAGCRVA IYLSERL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COQ7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

43 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COQ7.

Disease | AllUniProt

Conditions COQ7 is implicated in, by any mechanism.

• Coenzyme Q10 deficiency, primary, 8 (COQ10D8) MIM:616733
• Neuronopathy, distal hereditary motor, autosomal recessive 9 (HMNR9) MIM:620402

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 252 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary coenzyme Q10 deficiency 8
• Neuronopathy, distal hereditary motor, autosomal recessive 9

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.49

gnomAD pLI

0

gnomAD missense Z

-0.46

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• determination of adult lifespan
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• regulation of gene expression
• regulation of reactive oxygen species metabolic process
• ubiquinone biosynthetic process

Molecular functions

• chromatin binding
• metal ion binding
• 3-demethoxyubiquinone 3-hydroxylase (NADH) activity

Cellular components

• chromosome
• extrinsic component of mitochondrial inner membrane
• mitochondrial inner membrane
• mitochondrion
• nucleus
• ubiquinone biosynthesis complex

Protein domainsUniProt · Pfam · InterPro

• Ferritin-like superfamily
• Ubiquinone biosynthesis protein Coq7
• Ubiquinone biosynthesis protein COQ7

KeywordsUniProt

• Chromosome
• Iron
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Monooxygenase
• Neurodegeneration
• Neuropathy
• Nucleus
• Oxidoreductase
• Primary mitochondrial disease
• Repeat
• Transit peptide
• Ubiquinone biosynthesis

InteractionsUniProt · HPA

Protein binding partners of COQ7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COQ6
• COQ8B
• COQ9