AK9 (Adenylate Kinase 9)
A mitochondrial adenylate kinase involved in nucleotide metabolism and energy homeostasis.
Gene Information Card
| Symbol | AK9 |
|---|---|
| Full Name | Adenylate Kinase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 221264 ncbi.nlm.nih.gov/gene/221264 |
| Ensembl ID | ENSG00000185008 |
| UniProt ID | Q5TCS8 |
| OMIM ID | 615358 |
| HGNC ID | 33814 |
| Aliases | AK6, C6orf199, dJ1181N3.1 |
Description
AK9 encodes adenylate kinase 9, a member of the adenylate kinase family that catalyzes the reversible transfer of phosphate groups among adenine nucleotides. This enzyme is localized to mitochondria and plays a role in maintaining cellular energy balance and nucleotide homeostasis. AK9 is expressed in various tissues and has been implicated in mitochondrial function and certain disease states.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disorders | Impaired nucleotide metabolism due to AK9 dysfunction | ClinVar, OMIM |
| Cancer | Altered expression and mutations affecting energy metabolism | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| HepG2 | 7.4 | Medium expression |
| K562 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Likely damaging (ClinVar) |
| c.200A>G (p.Asn67Ser) | Missense | <0.01% | Uncertain significance (ClinVar) |
| c.350_351insA | Frameshift | Rare | Loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of enzyme activity.
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:0006165 – nucleoside diphosphate phosphorylation |
| • GO:0046034 – ATP metabolic process |
Pathways
• Nucleotide metabolism (Reactome: R-HSA-8956321)
• Purine metabolism (KEGG: hsa00230)
Protein Summary
Adenylate kinase 9 (AK9) is a 221-amino acid mitochondrial protein that catalyzes the interconversion of adenine nucleotides (ATP + AMP ↔ 2 ADP). It is essential for maintaining cellular energy homeostasis and nucleotide pools. The protein is encoded by the AK9 gene located on chromosome 6q21. AK9 is expressed in multiple tissues, with highest levels in testis and heart. Mutations in AK9 are rare but have been associated with mitochondrial dysfunction and may contribute to cancer metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AK9 Knockout HEK293 Cell Line | EDJ-KQ8808 | Human | 221264 | Details Get a Quote |
| AK9 Knockout A-549 Cell Line | EDJ-KQ35107 | Human | 221264 | Details Get a Quote |
| AK9 Knockout HCT 116 Cell Line | EDJ-KQ35108 | Human | 221264 | Details Get a Quote |
| AK9 Knockout HeLa Cell Line | EDJ-KQ35109 | Human | 221264 | Details Get a Quote |
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