AK1 Gene (Adenylate Kinase 1): Function, Disease Associations, and Expression
Comprehensive guide to AK1, including genomic context, protein function, associated diseases, tissue expression, and mutation landscape.
Gene Information Card
| Symbol | AK1 |
|---|---|
| Full Name | Adenylate Kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 203 ncbi.nlm.nih.gov/gene/203 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | P00568 |
| OMIM ID | 103000 |
| HGNC ID | 361 |
| Aliases | AK, ATP-AMP transphosphorylase, myokinase |
Description
The AK1 gene encodes adenylate kinase 1, a cytosolic enzyme that catalyzes the reversible transfer of phosphate groups between adenine nucleotides (ATP + AMP ↔ 2 ADP). This enzyme is critical for cellular energy homeostasis, particularly in tissues with high energy demand such as muscle and red blood cells. AK1 deficiency is associated with hemolytic anemia and impaired energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemolytic anemia | AK1 deficiency leads to reduced ATP regeneration and impaired red blood cell membrane integrity, causing premature destruction. | OMIM 103000; ClinVar |
| Cardiovascular disease (possible) | Altered AK1 activity may affect cardiac energy metabolism, but direct causal evidence is limited. | PubMed (via NCBI) |
| Cancer (possible) | Dysregulation of AK1 expression has been observed in some tumors, but functional significance is unclear. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | High (nTPM ~ 200) | High |
| Heart | High (nTPM ~ 150) | High |
| Brain | Moderate (nTPM ~ 50) | Moderate |
| Liver | Low (nTPM ~ 10) | Low |
| Kidney | Low (nTPM ~ 5) | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Moderate (nTPM ~ 30) | Cervical cancer cell line |
| K562 | Low (nTPM ~ 10) | Chronic myeloid leukemia |
| MCF7 | Low (nTPM ~ 8) | Breast cancer |
| A549 | Low (nTPM ~ 5) | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.164C>T (p.Thr55Met) | Missense | Rare | Reduced enzyme activity; associated with hemolytic anemia |
| c.296G>A (p.Arg99His) | Missense | Rare | Impaired catalytic function; reported in AK1 deficiency |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most AK1 mutations are loss-of-function, leading to reduced enzyme activity and energy metabolism defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects documented; AK1 deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • adenylate kinase activity |
| • AMP binding | • ADP binding |
| • kinase activity | • nucleotide binding |
| • phosphotransferase activity | • cytoplasm |
| • cytosol |
Pathways
• Purine metabolism
• Energy metabolism (ATP regeneration)
Protein Summary
Adenylate kinase 1 (AK1) is a small cytosolic enzyme (194 amino acids, ~21.6 kDa) that catalyzes the interconversion of adenine nucleotides. It plays a key role in cellular energy homeostasis by maintaining high ATP levels and regulating AMP/ADP ratios. AK1 is highly expressed in tissues with high energy demand, such as skeletal muscle, heart, and brain. Deficiency due to mutations leads to hemolytic anemia and may contribute to other metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AAK1 Knockout HEK293 Cell Line | EDJ-KQ269 | Human | 22848 | Details Get a Quote |
| PAK1 Knockout HEK293 Cell Line | EDJ-KQ721 | Human | 5058 | Details Get a Quote |
| NUAK1 Knockout HEK293 Cell Line | EDJ-KQ2259 | Human | 9891 | Details Get a Quote |
| AK1 Knockout HEK293 Cell Line | EDJ-KQ2633 | Human | 203 | Details Get a Quote |
| IRAK1 Knockout HEK293 Cell Line | EDJ-KQ3940 | Human | 3654 | Details Get a Quote |
| TRAK1 Knockout HEK293 Cell Line | EDJ-KQ7741 | Human | 22906 | Details Get a Quote |
| EIF2AK1 Knockout HEK293 Cell Line | EDJ-KQ8679 | Human | 27102 | Details Get a Quote |
| IRAK1BP1 Knockout HEK293 Cell Line | EDJ-KQ9348 | Human | 134728 | Details Get a Quote |
| PEAK1 Knockout HEK293 Cell Line | EDJ-KQ14723 | Human | 79834 | Details Get a Quote |
| JAK1 Knockout HEK293 Cell Line | EDJ-KQ17827 | Human | 3716 | Details Get a Quote |
| IRAK1 Knockout A-549 Cell Line | EDJ-KQ26186 | Human | 3654 | Details Get a Quote |
| IRAK1 Knockout HCT 116 Cell Line | EDJ-KQ26187 | Human | 3654 | Details Get a Quote |
| IRAK1 Knockout HeLa Cell Line | EDJ-KQ26188 | Human | 3654 | Details Get a Quote |
| TRAK1 Knockout A-549 Cell Line | EDJ-KQ33170 | Human | 22906 | Details Get a Quote |
| TRAK1 Knockout HCT 116 Cell Line | EDJ-KQ33171 | Human | 22906 | Details Get a Quote |
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