AK8 Gene - Adenylate Kinase 8
Comprehensive genomic and functional analysis of AK8, a member of the adenylate kinase family involved in nucleotide metabolism and energy homeostasis.
Gene Information Card
| Symbol | AK8 |
|---|---|
| Full Name | Adenylate Kinase 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 54963 ncbi.nlm.nih.gov/gene/54963 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q96MA6 |
| OMIM ID | 611644 |
| HGNC ID | 24529 |
| Aliases | AK6, AK8, adenylate kinase 8, AK 8 |
Description
AK8 (Adenylate Kinase 8) encodes a member of the adenylate kinase family, enzymes that catalyze the reversible transfer of a phosphate group between ATP and AMP to produce two ADP molecules. This gene is involved in maintaining cellular energy homeostasis and nucleotide metabolism. AK8 is localized to the cytoplasm and is expressed in various tissues, with highest levels in testis and brain. Mutations in AK8 have been associated with primary ciliary dyskinesia and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 47 | Loss-of-function mutations in AK8 impair ciliary function, leading to defective mucociliary clearance. | ClinVar, OMIM |
| Lung Cancer | Somatic mutations and altered expression of AK8 may contribute to tumorigenesis through disrupted energy metabolism. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Brain | 12.1 | Medium |
| Heart | 8.5 | Medium |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Moderate expression |
| A549 | 7.5 | Low expression |
| K562 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Loss of function; associated with primary ciliary dyskinesia |
| c.200A>G (p.Asn67Ser) | Missense | 0.02% | Unknown significance; reported in COSMIC |
| c.350G>A (p.Arg117His) | Missense | 0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, associated with primary ciliary dyskinesia.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not reported in literature or databases.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • adenylate kinase activity |
| • nucleotide binding | • kinase activity |
| • cytoplasm |
Pathways
• Purine metabolism
• ADP/ATP transport
• Energy metabolism
Protein Summary
AK8 is a 221-amino acid protein belonging to the adenylate kinase family. It catalyzes the interconversion of adenine nucleotides (ATP + AMP ↔ 2 ADP), playing a key role in cellular energy homeostasis. The protein is predominantly cytoplasmic and is essential for ciliary function, as evidenced by its association with primary ciliary dyskinesia. Structural studies indicate a conserved core domain with a P-loop motif for nucleotide binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AK8 Knockout HEK293 Cell Line | EDJ-KQ11569 | Human | 158067 | Details Get a Quote |
| AK8 Knockout HCT 116 Cell Line | EDJ-KQ41158 | Human | 158067 | Details Get a Quote |
| AK8 Knockout HeLa Cell Line | EDJ-KQ58778 | Human | 158067 | Details Get a Quote |
| AK8 Knockout A-549 Cell Line | EDJ-KQ67260 | Human | 158067 | Details Get a Quote |
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