Seroatlas · Human Serome Atlas

COQ6

Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial

Also known as: CGI-10, COQ6_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y2Z9
Gene: COQ6
Ensembl: ENSG00000119723
Chromosome: 14
Canonical length: 468 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

468 residues, UniProt reviewed canonical sequence.

>Q9Y2Z9|COQ6
     1  MAARLVSRCG AVRAAPHSGP LVSWRRWSGA STDTVYDVVV SGGGLVGAAM ACALGYDIHF
    61  HDKKILLLEA GPKKVLEKLS ETYSNRVSSI SPGSATLLSS FGAWDHICNM RYRAFRRMQV
   121  WDACSEALIM FDKDNLDDMG YIVENDVIMH ALTKQLEAVS DRVTVLYRSK AIRYTWPCPF
   181  PMADSSPWVH ITLGDGSTFQ TKLLIGADGH NSGVRQAVGI QNVSWNYDQS AVVATLHLSE
   241  ATENNVAWQR FLPSGPIALL PLSDTLSSLV WSTSHEHAAE LVSMDEEKFV DAVNSAFWSD
   301  ADHTDFIDTA GAMLQYAVSL LKPTKVSARQ LPPSVARVDA KSRVLFPLGL GHAAEYVRPR
   361  VALIGDAAHR VHPLAGQGVN MGFGDISSLA HHLSTAAFNG KDLGSVSHLT GYETERQRHN
   421  TALLAATDLL KRLYSTSASP LVLLRTWGLQ ATNAVSPLKE QIMAFASK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COQ6 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): 0.28
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

tongue: 40 nTPM
adrenal gland: 37 nTPM
skeletal muscle: 36 nTPM
choroid plexus: 34 nTPM
liver: 32 nTPM
heart muscle: 30 nTPM

Single-cell type

early spermatids: 219 nCPM
late spermatids: 65 nCPM
myonuclei: 63 nCPM
late primary spermatocytes: 44 nCPM
cytotrophoblasts: 34 nCPM
syncytiotrophoblasts: 29 nCPM

Immune cell

naive CD4 T-cell: 16 nTPM
NK-cell: 15 nTPM
intermediate monocyte: 14 nTPM
non-classical monocyte: 13 nTPM
myeloid DC: 12 nTPM
classical monocyte: 11 nTPM

Brain region

choroid plexus: 15 nTPM
hypothalamus: 5.9 nTPM
white matter: 5.9 nTPM
thalamus: 5.7 nTPM
basal ganglia: 5.6 nTPM
cerebellum: 5.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COQ6.

Disease | AllUniProt

Conditions COQ6 is implicated in, by any mechanism.

Coenzyme Q10 deficiency, primary, 6 (COQ10D6) MIM:614650

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 401 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial cancer of breast

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): 1.33
gnomAD pLI: 0
gnomAD missense Z: 0.62
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

ubiquinone biosynthetic process

Molecular functions

FAD binding
oxidoreductase activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
2-methoxy-6-polyprenolphenol 4-hydroxylase activity
4-hydroxy-3-all-trans-polyprenylbenzoate oxygenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

FAD-binding domain
FAD/NAD(P)-binding domain superfamily
FAD binding domain
Ubiquinone biosynthesis monooxygenase COQ6
Ubiquinone biosynthesis hydroxylase UbiH/COQ6
Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6, conserved site
Ubiquinone biosynthesis monooxygenase UbiH/COQ6

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of COQ6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads COQ6 as an antibody target. Whether an autoantibody or antibody against COQ6 could matter depends on whether native COQ6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COQ6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label COQ6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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