COQ4

Protein identityUniProt · HPA

UniProt accession

Q9Y3A0

Gene

COQ4

Ensembl

ENSG00000167113

Chromosome

9

Canonical length

265 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Canonical amino-acid sequenceUniProt

265 residues, UniProt reviewed canonical sequence.

>Q9Y3A0|COQ4
     1  MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG LLAAGSAAMA
    61  LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ ERPRISTSTL DLGKLQSLPE
   121  GSLGREYLRF LDVNRVSPDT RAPTRFVDDE ELAYVIQRYR EVHDMLHTLL GMPTNILGEI
   181  VVKWFEAVQT GLPMCILGAF FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR
   241  WEQSLRALRE ELGITAPPMH VQGLA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COQ4 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)

0.32

Highest tissue expression

80 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COQ4.

Disease | AllUniProt

Conditions COQ4 is implicated in, by any mechanism.

• Coenzyme Q10 deficiency, primary, 7 (COQ10D7) MIM:616276
• Spastic ataxia 10, autosomal recessive (SPAX10) MIM:620666

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 351 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
• Spastic ataxia 10, autosomal recessive
• Inborn genetic diseases
• COQ4-related disorder
• Spastic ataxia

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)

1.58

gnomAD pLI

0

gnomAD missense Z

0.36

DepMap mean gene effect

-0.59

DepMap dependency class

common

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

• ubiquinone biosynthetic process

Molecular functions

• zinc ion binding
• 4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase activity

Cellular components

• extrinsic component of mitochondrial inner membrane
• mitochondrial inner membrane
• mitochondrion
• protein-containing complex
• ubiquinone biosynthesis complex

Protein domainsUniProt · Pfam · InterPro

• Ubiquinone biosynthesis protein Coq4
• Ubiquinone biosynthesis protein Coq4, eukaryotic
• Coenzyme Q (ubiquinone) biosynthesis protein Coq4

KeywordsUniProt

• Lyase
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Neurodegeneration
• Phosphoprotein
• Primary mitochondrial disease
• Transit peptide
• Ubiquinone biosynthesis

InteractionsUniProt · HPA

Protein binding partners of COQ4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COQ5
• COQ9