ADCK5 Gene - AarF Domain Containing Kinase 5
A mitochondrial kinase involved in coenzyme Q10 biosynthesis and cellular energy metabolism.
Gene Information Card
| Symbol | ADCK5 |
|---|---|
| Full Name | AarF Domain Containing Kinase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 26275 ncbi.nlm.nih.gov/gene/26275 |
| Ensembl ID | ENSG00000104763 |
| UniProt ID | Q96D53 |
| OMIM ID | 616869 |
| HGNC ID | 21737 |
| Aliases | C8orf64, UNQ583/PRO1152 |
Description
ADCK5 (AarF Domain Containing Kinase 5) encodes a mitochondrial kinase belonging to the AarF/UbiB family. The protein is involved in the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. ADCK5 is essential for cellular energy production and protection against oxidative stress. Mutations in this gene are associated with primary coenzyme Q10 deficiency and related mitochondrial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency | Loss-of-function mutations impair CoQ10 biosynthesis, leading to mitochondrial dysfunction and energy deficit. | ClinVar, OMIM #616869 |
| Mitochondrial encephalopathy | Disrupted CoQ10 synthesis affects neuronal energy metabolism, potentially causing neurological symptoms. | ClinVar, OMIM |
| Nephrotic syndrome (steroid-resistant) | CoQ10 deficiency in kidney cells leads to podocyte dysfunction and proteinuria. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Liver | 8.7 | Medium |
| Skeletal muscle | 7.1 | Low |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| HepG2 | 7.5 | Moderate expression in liver cancer cells |
| SH-SY5Y | 5.3 | Low expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.737G>A (p.Arg246His) | Missense | Rare | Likely loss of function; associated with CoQ10 deficiency |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Premature stop; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported ADCK5 mutations are loss-of-function, impairing CoQ10 biosynthesis and mitochondrial respiration.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADCK5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ADCK5.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524 - ATP binding | • GO:0016772 - transferase activity |
| • transferring phosphorus-containing groups | • GO:0005739 - mitochondrion |
| • GO:0006744 - ubiquinone biosynthetic process | • GO:0006120 - mitochondrial electron transport |
| • NADH to ubiquinone |
Pathways
• Coenzyme Q10 (ubiquinone) biosynthesis (Reactome: R-HSA-2142850)
• Mitochondrial electron transport chain (KEGG: map00190)
Protein Summary
ADCK5 is a 647-amino acid mitochondrial kinase with a conserved AarF domain. It localizes to the inner mitochondrial membrane and phosphorylates key intermediates in the coenzyme Q10 biosynthesis pathway. The protein is critical for maintaining mitochondrial membrane potential and ATP production. Structural studies suggest it functions as a scaffold for the CoQ10 biosynthetic complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCK5 Knockout HEK293 Cell Line | EDJ-KQ5403 | Human | 203054 | Details Get a Quote |
| ADCK5 Knockout A-549 Cell Line | EDJ-KQ28554 | Human | 203054 | Details Get a Quote |
| ADCK5 Knockout HCT 116 Cell Line | EDJ-KQ28555 | Human | 203054 | Details Get a Quote |
| ADCK5 Knockout HeLa Cell Line | EDJ-KQ28556 | Human | 203054 | Details Get a Quote |
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