AK7: Adenylate Kinase 7
A gene encoding a testis-specific adenylate kinase involved in sperm motility and energy metabolism.
Gene Information Card
| Symbol | AK7 |
|---|---|
| Full Name | Adenylate Kinase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 122481 ncbi.nlm.nih.gov/gene/122481 |
| Ensembl ID | ENSG00000140057 |
| UniProt ID | Q96M32 |
| OMIM ID | 615364 |
| HGNC ID | 20137 |
| Aliases | AK7, FLJ23356, MGC138499 |
Description
AK7 (Adenylate Kinase 7) is a protein-coding gene located on chromosome 14q32.2. It encodes a member of the adenylate kinase family, which catalyzes the reversible transfer of phosphate groups among adenine nucleotides. AK7 is predominantly expressed in testis and is essential for sperm flagellar function and motility. Mutations in AK7 are associated with primary ciliary dyskinesia (PCD) and male infertility due to impaired sperm motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in AK7 disrupt ciliary and flagellar energy metabolism, impairing mucociliary clearance and sperm motility. | ClinVar, OMIM |
| Male Infertility (asthenozoospermia) | AK7 deficiency leads to reduced ATP production in sperm flagella, causing severe motility defects. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.2 | High |
| Fallopian tube | 3.1 | Low |
| Kidney | 2.5 | Low |
| Lung | 1.8 | Low |
| Brain | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm (ejaculated) | N/A | High expression in flagella |
| Testis (Sertoli cells) | N/A | Moderate |
| Bronchial epithelial cells | N/A | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; truncation of AK7 protein |
| c.1555G>A (p.Gly519Arg) | Missense | Rare | Impaired catalytic activity |
| c.1972_1973del (p.Leu658Valfs*12) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish AK7 enzymatic activity, leading to ciliary dyskinesia and sperm motility defects.
Gain of Function (GOF)
No gain-of-function mutations reported for AK7.
Dominant Negative (DN)
No dominant-negative mutations reported for AK7.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004017 - adenylate kinase activity | • GO:0005524 - ATP binding |
| • GO:0006172 - ADP biosynthetic process | • GO:0005737 - cytoplasm |
| • GO:0005929 - cilium |
Pathways
• Purine metabolism (Reactome: R-HSA-73817)
• Adenylate kinase pathway (KEGG: map00230)
Protein Summary
AK7 encodes a 658-amino acid protein belonging to the adenylate kinase family. It catalyzes the reversible conversion of ATP + AMP to 2 ADP, playing a critical role in cellular energy homeostasis. AK7 is specifically localized to the flagellum of sperm and cilia, where it provides local ATP for dynein-driven motility. Structural analysis reveals a conserved adenylate kinase domain with a central P-loop for nucleotide binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AK7 Knockout HEK293 Cell Line | EDJ-KQ8151 | Human | 122481 | Details Get a Quote |
| MEAK7 Knockout HEK293 Cell Line | EDJ-KQ14228 | Human | 57707 | Details Get a Quote |
| AK7 Knockout A-549 Cell Line | EDJ-KQ34056 | Human | 122481 | Details Get a Quote |
| AK7 Knockout HeLa Cell Line | EDJ-KQ34057 | Human | 122481 | Details Get a Quote |
| MEAK7 Knockout A-549 Cell Line | EDJ-KQ44198 | Human | 57707 | Details Get a Quote |
| MEAK7 Knockout HCT 116 Cell Line | EDJ-KQ44199 | Human | 57707 | Details Get a Quote |
| MEAK7 Knockout HeLa Cell Line | EDJ-KQ44200 | Human | 57707 | Details Get a Quote |
| AK7 Knockout HCT 116 Cell Line | EDJ-KQ32716 | Human | 122481 | Details Get a Quote |
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