ADCK1 Gene - AarF Domain Containing Kinase 1
Mitochondrial kinase involved in coenzyme Q10 biosynthesis and cellular energy metabolism
Gene Information Card
| Symbol | ADCK1 |
|---|---|
| Full Name | AarF domain containing kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 57143 ncbi.nlm.nih.gov/gene/57143 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96L96 |
| OMIM ID | 615567 |
| HGNC ID | 21730 |
| Aliases | AarF domain-containing kinase 1, COQ8A-like, C14orf127 |
Description
ADCK1 (AarF domain containing kinase 1) is a protein-coding gene located on chromosome 14q24.3. The encoded protein is a mitochondrial kinase belonging to the AarF family, which is involved in the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. ADCK1 is thought to regulate coenzyme Q10 levels and mitochondrial function, and its dysfunction may contribute to mitochondrial disorders and metabolic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coenzyme Q10 deficiency, primary | Impaired coenzyme Q10 biosynthesis due to ADCK1 mutations | ClinVar, OMIM |
| Mitochondrial respiratory chain disorders | Disrupted electron transport chain from reduced coenzyme Q10 | NCBI Gene, OMIM |
| Hereditary spastic paraplegia (possible) | Mitochondrial dysfunction affecting neuronal axons | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 9.8 | Medium |
| Liver | 7.2 | Low |
| Kidney | 6.5 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Embryonic kidney cells |
| HeLa | 6.7 | Cervical cancer cells |
| K562 | 5.9 | Leukemia cells |
| HepG2 | 7.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Unknown functional impact |
| c.287G>A (p.Arg96His) | Missense | <0.01% | Potential loss of kinase activity |
| c.512_513del (p.Leu171fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely impairing coenzyme Q10 biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported for ADCK1.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524 - ATP binding | • GO:0004672 - protein kinase activity |
| • GO:0005739 - mitochondrion | • GO:0006744 - ubiquinone biosynthetic process |
| • GO:0016310 - phosphorylation |
Pathways
• Coenzyme Q10 biosynthesis (Reactome: R-HSA-2142753)
• Mitochondrial electron transport chain (KEGG: map00190)
Protein Summary
ADCK1 encodes a 647-amino acid mitochondrial kinase with an AarF domain. The protein localizes to the inner mitochondrial membrane and is essential for the phosphorylation steps in coenzyme Q10 biosynthesis. It interacts with other COQ proteins to stabilize the biosynthetic complex. Loss of ADCK1 function reduces coenzyme Q10 levels, impairing mitochondrial respiration and increasing oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCK1 Knockout HEK293 Cell Line | EDJ-KQ12286 | Human | 57143 | Details Get a Quote |
| ADCK1 Knockout A-549 Cell Line | EDJ-KQ41093 | Human | 57143 | Details Get a Quote |
| ADCK1 Knockout HCT 116 Cell Line | EDJ-KQ41094 | Human | 57143 | Details Get a Quote |
| ADCK1 Knockout HeLa Cell Line | EDJ-KQ41095 | Human | 57143 | Details Get a Quote |
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