TSSK6: Testis-Specific Serine Kinase 6
A key regulator of spermiogenesis and male fertility
Gene Information Card
| Symbol | TSSK6 |
|---|---|
| Full Name | Testis-Specific Serine Kinase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 83983 ncbi.nlm.nih.gov/gene/83983 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9BXA6 |
| OMIM ID | 610461 |
| HGNC ID | 25415 |
| Aliases | TSSK5, STK22D, SPOGA4 |
Description
TSSK6 (Testis-Specific Serine Kinase 6) is a member of the testis-specific serine/threonine kinase family. It is predominantly expressed in the testis and plays an essential role in spermiogenesis, particularly in sperm head shaping, acrosome formation, and flagellum development. TSSK6 phosphorylates substrates involved in cytoskeletal reorganization and chromatin condensation during late spermatid differentiation. Loss of TSSK6 function leads to male infertility due to defective sperm morphology and motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations impair spermiogenesis, causing abnormal sperm head and flagellum | OMIM #610461; mouse knockout models show complete infertility |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.5 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 35.2 | High expression in meiotic cells |
| Round spermatids | 42.8 | Highest expression during spermiogenesis |
| Elongating spermatids | 38.1 | Sustained expression |
| Sertoli cells | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely null allele |
| c.214C>T (p.Arg72Trp) | missense | <0.01% | Impaired kinase activity, reduced sperm motility |
| c.487G>A (p.Gly163Arg) | missense | <0.01% | Disrupted ATP binding, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish kinase activity or protein stability lead to spermiogenesis arrest and male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; recessive inheritance pattern expected.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • spermatogenesis | • sperm flagellum assembly |
| • acrosome formation | • cell differentiation |
Pathways
• Spermatogenesis (Reactome: R-HSA-418885)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006925)
Protein Summary
TSSK6 is a 351-amino acid serine/threonine kinase with a catalytic domain typical of the CAMK family. It localizes to the manchette and flagellum of developing spermatids. The protein is essential for the final steps of sperm maturation, including nuclear condensation and flagellar elongation. TSSK6 interacts with and phosphorylates substrates such as SPATA16 and ODF1, regulating cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSSK6 Knockout HEK293 Cell Line | EDJ-KQ9949 | Human | 83983 | Details Get a Quote |
| TSSK6 Knockout A-549 Cell Line | EDJ-KQ36856 | Human | 83983 | Details Get a Quote |
| TSSK6 Knockout HCT 116 Cell Line | EDJ-KQ36857 | Human | 83983 | Details Get a Quote |
| TSSK6 Knockout HeLa Cell Line | EDJ-KQ57513 | Human | 83983 | Details Get a Quote |
