AK4: Adenylate Kinase 4 – Mitochondrial Energy Metabolism Gene
Comprehensive gene card for AK4, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | AK4 |
|---|---|
| Full Name | Adenylate Kinase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 205 ncbi.nlm.nih.gov/gene/205 |
| Ensembl ID | ENSG00000162433 |
| UniProt ID | P27144 |
| OMIM ID | 103030 |
| HGNC ID | 362 |
| Aliases | AK3, AK3L1, AK4L1 |
Description
AK4 (Adenylate Kinase 4) encodes a mitochondrial adenylate kinase that catalyzes the reversible transfer of phosphate groups among adenine nucleotides, playing a key role in cellular energy homeostasis. The enzyme is localized to the mitochondrial matrix and is involved in nucleotide metabolism and energy transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Impaired mitochondrial energy metabolism due to AK4 deficiency | ClinVar, OMIM |
| Cancer (various) | Altered expression and mutations affecting nucleotide pools | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Skeletal Muscle | 15.1 | Medium |
| Kidney | 6.7 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.8 | Hepatocellular carcinoma |
| K562 | 5.4 | Leukemia |
| A549 | 7.1 | Lung carcinoma |
| MCF7 | 3.2 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149G>A (p.Arg50His) | Missense | <0.01% | Reduced enzyme activity |
| c.302C>T (p.Thr101Met) | Missense | <0.01% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg50His) reduce catalytic activity, impairing mitochondrial ATP production.
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)
| • GO:0004017 – adenylate kinase activity | • GO:0005524 – ATP binding |
| • GO:0005739 – mitochondrion | • GO:0006172 – ADP biosynthetic process |
| • GO:0046034 – ATP metabolic process |
Pathways
• Adenine nucleotide metabolism (Reactome: R-HSA-8956319)
• Purine metabolism (KEGG: hsa00230)
Protein Summary
AK4 encodes a 223-amino acid mitochondrial adenylate kinase (UniProt P27144) that catalyzes the interconversion of adenine nucleotides (ATP + AMP ↔ 2 ADP). It is essential for maintaining cellular energy balance, particularly in tissues with high energy demand such as heart and skeletal muscle. The protein contains a conserved NMP kinase domain and is localized to the mitochondrial matrix via an N-terminal mitochondrial targeting sequence.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRAK4 Knockout HEK293 Cell Line | EDJ-KQ569 | Human | 51135 | Details Get a Quote |
| PAK4 Knockout HEK293 Cell Line | EDJ-KQ683 | Human | 10298 | Details Get a Quote |
| EIF2AK4 Knockout HEK293 Cell Line | EDJ-KQ1936 | Human | 440275 | Details Get a Quote |
| IRAK4 Knockout A-549 Cell Line | EDJ-KQ18964 | Human | 51135 | Details Get a Quote |
| IRAK4 Knockout HCT 116 Cell Line | EDJ-KQ18965 | Human | 51135 | Details Get a Quote |
| IRAK4 Knockout HeLa Cell Line | EDJ-KQ18966 | Human | 51135 | Details Get a Quote |
| PAK4 Knockout A-549 Cell Line | EDJ-KQ20590 | Human | 10298 | Details Get a Quote |
| PAK4 Knockout HCT 116 Cell Line | EDJ-KQ20592 | Human | 10298 | Details Get a Quote |
| PAK4 Knockout HeLa Cell Line | EDJ-KQ20593 | Human | 10298 | Details Get a Quote |
| EIF2AK4 Knockout A-549 Cell Line | EDJ-KQ21868 | Human | 440275 | Details Get a Quote |
| EIF2AK4 Knockout HCT 116 Cell Line | EDJ-KQ21869 | Human | 440275 | Details Get a Quote |
| EIF2AK4 Knockout HeLa Cell Line | EDJ-KQ21870 | Human | 440275 | Details Get a Quote |
| AK4 Knockout HEK293 Cell Line | EDJ-KQ50112 | Human | 205 | Details Get a Quote |
| AK4 Knockout HeLa Cell Line | EDJ-KQ52588 | Human | 205 | Details Get a Quote |
| AK4 Knockout A-549 Cell Line | EDJ-KQ61066 | Human | 205 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
