Function
Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates. Shows an unusual selectivity for binding ADP over ATP.
Gene References into Functions
- Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency. PMID: 27499294
- ADCK3/COQ8 localises to mitochondrial cristae and is targeted to this organelle via the presence of an N-terminal localisation signal PMID: 26866375
- work reveals Mg(2+)-dependent ATPase activity of ADCK3, providing strong support for the theoretical prediction of this protein being a functional atypical kinase. PMID: 25540914
- a structural foundation for investigating the role of transmembrane association in regulating the biological activity of ADCK3 PMID: 25216398
- Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. PMID: 25498144
- These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations PMID: 22036850
- play an important role in mediating p53-inducible apoptosis through the mitochondrial pathway. PMID: 11888884
- CABC1 gene mutations in four ubiquinone-deficient patients in three distinct families were reported. PMID: 18319072
- Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ10 deficiency in muscle. PMID: 18319074
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Involvement in disease
Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
Subcellular Location
Mitochondrion. Membrane; Single-pass membrane protein.
Protein Families
Protein kinase superfamily, ADCK protein kinase family
Tissue Specificity
Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle.
