TESK1: Testis-Specific Kinase 1 – A Key Regulator of Actin Dynamics and Spermatogenesis
Comprehensive genomic and proteomic analysis of TESK1, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | TESK1 |
|---|---|
| Full Name | Testis-Specific Kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 7016 ncbi.nlm.nih.gov/gene/7016 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q15569 |
| OMIM ID | 601782 |
| HGNC ID | 11731 |
| Aliases | TESK1, TSK1, testis-specific kinase 1 |
Description
TESK1 encodes a serine/threonine kinase that is predominantly expressed in testis and plays a critical role in spermatogenesis by regulating actin cytoskeleton dynamics. It phosphorylates and inactivates cofilin, an actin-depolymerizing factor, thereby controlling actin filament turnover. TESK1 is also involved in cell migration and adhesion, and its dysregulation has been implicated in male infertility and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Impaired TESK1 activity disrupts cofilin phosphorylation, leading to defective actin dynamics in sperm cells, affecting motility and maturation. | OMIM #601782; PMID: 10615116 |
| Prostate cancer | TESK1 overexpression may promote cell migration and invasion via enhanced cofilin phosphorylation and actin remodeling. | COSMIC; PMID: 23431137 |
| Breast cancer | Altered TESK1 expression correlates with metastatic potential through regulation of actin cytoskeleton and focal adhesion dynamics. | COSMIC; PMID: 25609687 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Prostate | 8.1 | Medium |
| Breast | 3.5 | Low |
| Lung | 2.0 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 62.3 | High expression |
| PC-3 (prostate cancer) | 12.4 | Moderate expression |
| MCF-7 (breast cancer) | 5.6 | Low expression |
| A549 (lung cancer) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Located in kinase domain; potential loss of function |
| c.1120A>G (p.Ile374Val) | Missense | <0.1% | Reported in ClinVar as variant of uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Mutations in the kinase domain (e.g., p.Glu153Lys) may impair ATP binding or catalytic activity, reducing cofilin phosphorylation and disrupting actin regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TESK1.
Dominant Negative (DN)
No evidence for dominant-negative effects; TESK1 functions as a monomeric kinase.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
• Cofilin phosphorylation by TESK1 (Reactome: R-HSA-5663222)
Protein Summary
TESK1 is a 648-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal proline-rich region. It specifically phosphorylates cofilin at Ser3, inactivating its actin-depolymerizing activity. The protein is predominantly expressed in testis, where it regulates actin dynamics during spermatogenesis. TESK1 also interacts with LIMK2 and is involved in cell migration and adhesion. Structural studies show that its kinase domain adopts a typical bilobal fold, and its activity is regulated by autophosphorylation and interaction with 14-3-3 proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TESK1 Knockout HEK293 Cell Line | EDJ-KQ5916 | Human | 7016 | Details Get a Quote |
| TESK1 Knockout A-549 Cell Line | EDJ-KQ29445 | Human | 7016 | Details Get a Quote |
| TESK1 Knockout HCT 116 Cell Line | EDJ-KQ29446 | Human | 7016 | Details Get a Quote |
| TESK1 Knockout HeLa Cell Line | EDJ-KQ29447 | Human | 7016 | Details Get a Quote |
| TESK1 Knockout HAP1 Cell Line | EDC09412 | Human | 7016 | Details Get a Quote |
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