AK5: Adenylate Kinase 5 – Key Regulator of Cellular Energy Metabolism
Comprehensive genomic, transcriptomic, and proteomic analysis of AK5, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | AK5 |
|---|---|
| Full Name | Adenylate Kinase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 26289 ncbi.nlm.nih.gov/gene/26289 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9Y6K8 |
| OMIM ID | 608907 |
| HGNC ID | 363 |
| Aliases | AK6, AKL, AK5L, C1orf64 |
Description
AK5 (Adenylate Kinase 5) encodes a member of the adenylate kinase family, enzymes that catalyze the reversible transfer of a phosphate group between ATP and AMP, thereby maintaining cellular energy homeostasis. AK5 is localized to the cytoplasm and is involved in nucleotide metabolism, particularly in tissues with high energy demand. The gene spans approximately 30 kb on chromosome 1p31.1 and contains 10 exons. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered AK5 expression may disrupt ATP/AMP balance, promoting tumor cell proliferation | COSMIC, NCBI Gene |
| Breast Cancer | Dysregulation of AK5 linked to metabolic reprogramming in cancer cells | COSMIC |
| Lung Cancer | Somatic mutations in AK5 observed in lung adenocarcinoma | COSMIC |
| Glioma | AK5 expression changes associated with aggressive tumor phenotypes | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Liver | 4.2 | Low |
| Kidney | 6.1 | Low |
| Testis | 15.8 | High |
| Skeletal Muscle | 9.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney, moderate expression |
| HeLa | 7.8 | Cervical carcinoma, moderate expression |
| A549 | 5.4 | Lung carcinoma, low expression |
| MCF7 | 6.9 | Breast carcinoma, low expression |
| SH-SY5Y | 14.1 | Neuroblastoma, high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly56Arg | Missense | <0.01% | Unknown functional impact |
| p.Arg102Trp | Missense | <0.01% | Potential loss of catalytic activity |
| c.345+1G>A | Splice donor | <0.01% | Likely disrupts splicing |
| p.Glu198Lys | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Splice-site and missense mutations that impair catalytic activity or protein stability are predicted to reduce adenylate kinase function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AK5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for AK5.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004017 – adenylate kinase activity | • GO:0005524 – ATP binding |
| • GO:0006172 – ADP biosynthetic process | • GO:0046034 – ATP metabolic process |
| • GO:0005737 – cytoplasm |
Pathways
• Purine metabolism (Reactome: R-HSA-73847)
• Adenine nucleotide interconversion (Reactome: R-HSA-8956319)
Protein Summary
AK5 is a 198-amino-acid protein (UniProt Q9Y6K8) belonging to the adenylate kinase family. It catalyzes the reversible conversion of ATP + AMP to 2 ADP, playing a crucial role in cellular energy homeostasis. The protein contains a conserved NMP kinase domain and is predominantly expressed in brain and testis. Structural studies indicate a typical α/β fold with a central β-sheet flanked by α-helices. AK5 is implicated in nucleotide metabolism and may influence cell proliferation in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAK5 Knockout HEK293 Cell Line | EDJ-KQ1240 | Human | 57144 | Details Get a Quote |
| AK5 Knockout HEK293 Cell Line | EDJ-KQ8508 | Human | 26289 | Details Get a Quote |
| AK5 Knockout A-549 Cell Line | EDJ-KQ34633 | Human | 26289 | Details Get a Quote |
| AK5 Knockout HeLa Cell Line | EDJ-KQ55924 | Human | 26289 | Details Get a Quote |
| PAK5 Knockout HeLa Cell Line | EDJ-KQ56813 | Human | 57144 | Details Get a Quote |
| PAK5 Knockout A-549 Cell Line | EDJ-KQ65321 | Human | 57144 | Details Get a Quote |
| AK5 Knockout HCT 116 Cell Line | EDJ-KQ72866 | Human | 26289 | Details Get a Quote |
| PAK5 Knockout HCT 116 Cell Line | EDJ-KQ73757 | Human | 57144 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
