TAOK1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the TAOK1 gene, its protein product, associated diseases, expression patterns, and mutational landscape.
Gene Information Card
| Symbol | TAOK1 |
|---|---|
| Full Name | TAO kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 57551 ncbi.nlm.nih.gov/gene/57551 |
| Ensembl ID | ENSG00000134460 |
| UniProt ID | Q7L7X3 |
| OMIM ID | 610266 |
| HGNC ID | 17719 |
| Aliases | TAO1, KIAA1361, MAP3K16, PSK2 |
Description
TAOK1 (TAO kinase 1) encodes a serine/threonine kinase belonging to the STE20/MAP4K family. It acts as a mitogen-activated protein kinase kinase kinase (MAP3K) that activates p38 MAPK and JNK pathways in response to cellular stress. TAOK1 is involved in cytoskeletal regulation, cell cycle control, and apoptosis. Mutations and altered expression have been linked to neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and distinctive facies | Loss-of-function mutations in TAOK1 lead to haploinsufficiency, affecting neuronal signaling and development. | ClinVar, OMIM |
| Autism spectrum disorder | Rare de novo missense variants may disrupt kinase activity and synaptic function. | ClinVar, literature |
| Schizophrenia | Genetic association studies have implicated TAOK1 variants in susceptibility. | OMIM, literature |
| Cancer (various types) | TAOK1 overexpression or mutation can promote tumorigenesis via dysregulation of p38/JNK pathways and cell cycle. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 14.2 | Medium |
| Testis | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney cells, high expression |
| HeLa | 9.5 | Cervical cancer cells, moderate expression |
| A549 | 7.2 | Lung carcinoma cells, moderate expression |
| MCF7 | 5.8 | Breast cancer cells, low expression |
| K562 | 4.1 | Leukemia cells, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Loss of function, likely pathogenic |
| c.456G>A (p.Trp152Ter) | Nonsense | Rare | Loss of function, likely pathogenic |
| c.789A>G (p.Ile263Val) | Missense | Not reported | Uncertain significance |
| c.1001C>T (p.Pro334Leu) | Missense | Rare | Uncertain significance |
| c.2345_2346insA (p.Leu782fs) | Frameshift | Rare | Loss of function, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that introduce premature stop codons lead to truncated proteins lacking kinase activity, resulting in haploinsufficiency. These are associated with neurodevelopmental disorders.
Gain of Function (GOF)
Some missense mutations may increase kinase activity, potentially contributing to oncogenic signaling in cancer, though specific activating mutations are not well characterized.
Dominant Negative (DN)
Certain missense mutations in the kinase domain may produce a dominant-negative effect by interfering with dimerization or substrate binding, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • MAP kinase kinase kinase activity | • protein binding |
| • cytoskeleton organization | • signal transduction |
| • cell cycle | • apoptotic process |
| • stress-activated MAPK cascade | • regulation of cell growth |
Pathways
• MAPK signaling pathway
• p38 MAPK signaling pathway
• JNK signaling pathway
• Fc epsilon RI signaling pathway
• Neurotrophin signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
The TAOK1 protein is a 1001-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal regulatory region. It phosphorylates and activates downstream kinases such as MKK3/6 and MKK4/7, leading to p38 and JNK activation. TAOK1 also interacts with microtubules and regulates cytoskeletal dynamics. It is widely expressed, with highest levels in the brain, and plays roles in neuronal development, cell cycle progression, and stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAOK1 Knockout HEK293 Cell Line | EDJ-KQ15609 | Human | 57551 | Details Get a Quote |
| TAOK1 Knockout HCT 116 Cell Line | EDJ-KQ45272 | Human | 57551 | Details Get a Quote |
| TAOK1 Knockout A-549 Cell Line | EDJ-KQ46502 | Human | 57551 | Details Get a Quote |
| TAOK1 Knockout HeLa Cell Line | EDJ-KQ46503 | Human | 57551 | Details Get a Quote |
