AK3: Adenylate Kinase 3 – A Key Enzyme in Mitochondrial Energy Metabolism
Comprehensive gene card for AK3, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | AK3 |
|---|---|
| Full Name | adenylate kinase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 205 ncbi.nlm.nih.gov/gene/205 |
| Ensembl ID | ENSG00000162493 |
| UniProt ID | Q9UIJ7 |
| OMIM ID | 609290 |
| HGNC ID | 362 |
| Aliases | AK3L1, AKL3L, AKL3L1 |
Description
AK3 (adenylate kinase 3) encodes a mitochondrial enzyme that catalyzes the reversible transfer of a phosphate group between ATP and AMP, producing two ADP molecules. This enzyme is essential for maintaining cellular energy homeostasis, particularly in tissues with high energy demand. AK3 is involved in nucleotide metabolism and mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial energy production due to AK3 mutations | ClinVar, OMIM |
| Cardiomyopathy | Disrupted ATP/ADP balance in cardiac muscle | ClinVar |
| Neurodevelopmental disorder | Altered energy metabolism in neurons | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.6 | Medium |
| Skeletal muscle | 18.3 | Medium |
| Liver | 12.1 | Medium |
| Brain | 8.5 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical cancer cells |
| HepG2 | 10.2 | Hepatocellular carcinoma |
| K562 | 8.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.433C>T (p.Arg145Cys) | Missense | <0.01% | Reduced enzyme activity |
| c.556G>A (p.Gly186Arg) | Missense | <0.01% | Impaired ATP binding |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce or abolish enzymatic activity, leading to mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • adenylate kinase activity |
| • mitochondrion | • nucleotide metabolic process |
| • ATP metabolic process |
Pathways
• Purine metabolism
• ADP/ATP transport
Protein Summary
AK3 is a mitochondrial adenylate kinase that interconverts ATP and AMP to two ADP molecules, playing a critical role in cellular energy homeostasis. The protein is expressed in tissues with high metabolic demand, such as heart and skeletal muscle. Mutations in AK3 are associated with combined oxidative phosphorylation deficiency and other mitochondrial disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AK3 Knockout HEK293 Cell Line | EDJ-KQ3401 | Human | 50808 | Details Get a Quote |
| AK3 Knockout A-549 Cell Line | EDJ-KQ25100 | Human | 50808 | Details Get a Quote |
| AK3 Knockout HCT 116 Cell Line | EDJ-KQ25101 | Human | 50808 | Details Get a Quote |
| AK3 Knockout HeLa Cell Line | EDJ-KQ25102 | Human | 50808 | Details Get a Quote |
