COQ9

Protein identityUniProt · HPA

UniProt accession

O75208

Gene

COQ9

Ensembl

ENSG00000088682

Chromosome

16

Canonical length

318 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

318 residues, UniProt reviewed canonical sequence.

>O75208|COQ9
     1  MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ KQQPPNSFSQ
    61  QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ HRILTAALEF VPAHGWTAEA
   121  IAEGAQSLGL SSAAASMFGK DGSELILHFV TQCNTRLTRV LEEEQKLVQL GQAEKRKTDQ
   181  FLRDAVETRL RMLIPYIEHW PRALSILMLP HNIPSSLSLL TSMVDDMWHY AGDQSTDFNW
   241  YTRRAMLAAI YNTTELVMMQ DSSPDFEDTW RFLENRVNDA MNMGHTAKQV KSTGEALVQG
   301  LMGAAVTLKN LTGLNQRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COQ9 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

239 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COQ9.

Disease | AllUniProt

Conditions COQ9 is implicated in, by any mechanism.

• Coenzyme Q10 deficiency, primary, 5 (COQ10D5) MIM:614654

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 364 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
• Lung cancer
• Inborn genetic diseases
• Melanoma

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)

1.01

gnomAD pLI

0

gnomAD missense Z

-0.22

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial electron transport, NADH to ubiquinone
• ubiquinone biosynthetic process

Molecular functions

• enzyme activator activity
• lipid binding
• protein homodimerization activity
• isoprenoid binding

Cellular components

• mitochondrial inner membrane
• mitochondrion
• ubiquinone biosynthesis complex

Protein domainsUniProt · Pfam · InterPro

• Ubiquinone biosynthesis protein COQ9
• COQ9, C-terminal domain
• Ubiquinone biosynthesis protein COQ9, HTH domain
• COQ9
• Ubiquinone biosynthesis protein COQ9, N-terminal domain

KeywordsUniProt

• Acetylation
• Lipid-binding
• Mitochondrion
• Primary mitochondrial disease
• Transit peptide
• Ubiquinone biosynthesis
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of COQ9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COQ7
• COQ3
• COQ4
• COQ5
• COQ6
• COQ8A