AK6: Adenylate Kinase 6
A multifunctional enzyme involved in nucleotide metabolism and cellular energy homeostasis
Gene Information Card
| Symbol | AK6 |
|---|---|
| Full Name | Adenylate Kinase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 10210 ncbi.nlm.nih.gov/gene/10210 |
| Ensembl ID | ENSG00000113578 |
| UniProt ID | Q9Y3D8 |
| OMIM ID | 609171 |
| HGNC ID | 24119 |
| Aliases | CINAP, Coilin interacting nuclear ATPase protein, AD-004, CGI-137 |
Description
The AK6 gene encodes adenylate kinase 6, a member of the adenylate kinase family that catalyzes the reversible transfer of phosphate groups among adenine nucleotides. This enzyme plays a key role in cellular energy homeostasis and nucleotide metabolism. AK6 is also known as coilin-interacting nuclear ATPase protein (CINAP) and is involved in nuclear functions including RNA processing and Cajal body maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered nucleotide metabolism and energy balance; AK6 expression changes may affect tumor growth | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodegenerative disorders | Potential role in nuclear RNA processing; dysregulation may contribute to neuronal dysfunction | Limited evidence; inferred from functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| HEK293 | 9.1 | Embryonic kidney cell line |
| K562 | 7.8 | Leukemia cell line |
| HepG2 | 6.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | <0.1% | Unknown; predicted to affect protein function |
| c.328C>T (p.Arg110Trp) | Missense | <0.1% | Unknown; predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
Missense mutations may reduce catalytic activity or protein stability, leading to impaired nucleotide metabolism.
Gain of Function (GOF)
No evidence for gain-of-function mutations in AK6.
Dominant Negative (DN)
Not reported for AK6.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • adenylate kinase activity |
| • nucleotide binding | • kinase activity |
| • nucleus | • Cajal body |
| • ATP metabolic process | • nucleotide phosphorylation |
Pathways
• Purine metabolism
• Pyrimidine metabolism
• Metabolic pathways
Protein Summary
Adenylate kinase 6 is a 221-amino acid protein localized to the nucleus, particularly in Cajal bodies. It catalyzes the interconversion of adenine nucleotides (ATP + AMP ↔ 2 ADP), contributing to cellular energy balance. Additionally, it interacts with coilin and may participate in RNA processing and nuclear organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAK6 Knockout HEK293 Cell Line | EDJ-KQ274 | Human | 56924 | Details Get a Quote |
| BUB1B-PAK6 Knockout HEK293 Cell Line | EDJ-KQ1241 | Human | 106821730 | Details Get a Quote |
| PAK6 Knockout HCT 116 Cell Line | EDJ-KQ20594 | Human | 56924 | Details Get a Quote |
| PAK6 Knockout HeLa Cell Line | EDJ-KQ20595 | Human | 56924 | Details Get a Quote |
| BUB1B-PAK6 Knockout A-549 Cell Line | EDJ-KQ20596 | Human | 106821730 | Details Get a Quote |
| BUB1B-PAK6 Knockout HCT 116 Cell Line | EDJ-KQ20597 | Human | 106821730 | Details Get a Quote |
| BUB1B-PAK6 Knockout HeLa Cell Line | EDJ-KQ20598 | Human | 106821730 | Details Get a Quote |
| AK6 Knockout HEK293 Cell Line | EDJ-KQ52525 | Human | 102157402 | Details Get a Quote |
| AK6 Knockout HeLa Cell Line | EDJ-KQ61002 | Human | 102157402 | Details Get a Quote |
| PAK6 Knockout A-549 Cell Line | EDJ-KQ65271 | Human | 56924 | Details Get a Quote |
| AK6 Knockout A-549 Cell Line | EDJ-KQ69476 | Human | 102157402 | Details Get a Quote |
| AK6 Knockout HCT 116 Cell Line | EDJ-KQ77829 | Human | 102157402 | Details Get a Quote |
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