CSNK1E Gene - Casein Kinase 1 Epsilon
A key regulator of circadian rhythm, Wnt signaling, and cell cycle control
Gene Information Card
| Symbol | CSNK1E |
|---|---|
| Full Name | Casein Kinase 1 Epsilon |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 1454 ncbi.nlm.nih.gov/gene/1454 |
| Ensembl ID | ENSG00000100239 |
| UniProt ID | P49674 |
| OMIM ID | 600863 |
| HGNC ID | 2453 |
| Aliases | CK1epsilon, CKIepsilon, HCKIE |
Description
CSNK1E encodes casein kinase 1 epsilon, a serine/threonine protein kinase that phosphorylates a wide range of substrates. It is a core component of the circadian clock, where it phosphorylates PER proteins to regulate their stability and nuclear entry. CSNK1E also modulates Wnt/β-catenin signaling, DNA repair, and cell cycle progression. Dysregulation of CSNK1E is implicated in circadian rhythm disorders, cancer, and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial advanced sleep phase syndrome (FASPS) | Mutations in CSNK1E alter PER2 phosphorylation, leading to shortened circadian period | OMIM #600863; PMID: 16251969 |
| Breast cancer | Overexpression and amplification of CSNK1E promote Wnt signaling and cell proliferation | COSMIC; PMID: 22955915 |
| Colorectal cancer | CSNK1E mutations and copy number gains contribute to β-catenin stabilization | COSMIC; PMID: 24803665 |
| Neuroblastoma | CSNK1E is a candidate oncogene; high expression correlates with poor prognosis | PMID: 23542218 |
| Alzheimer's disease | CSNK1E phosphorylates tau and amyloid precursor protein, potentially contributing to neurofibrillary tangles | PMID: 10692421 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Liver | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 10.2 | Medium expression |
| MCF7 | 8.5 | Medium expression |
| HepG2 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.289C>T (p.Arg97Cys) | Missense | <0.01% | Alters kinase activity; associated with FASPS |
| c.538G>A (p.Gly180Arg) | Missense | <0.01% | Reduced PER2 phosphorylation; circadian phenotype |
| c.1043A>G (p.Asn348Ser) | Missense | 0.02% | Gain-of-function; linked to breast cancer |
| c.1217C>T (p.Pro406Leu) | Missense | 0.01% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Gly180Arg reduce kinase activity and impair PER2 phosphorylation, leading to circadian period lengthening.
Gain of Function (GOF)
p.Asn348Ser increases kinase activity, promoting Wnt signaling and oncogenic transformation.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for CSNK1E.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004674 - protein serine/threonine kinase activity | • GO:0005524 - ATP binding |
| • GO:0006468 - protein phosphorylation | • GO:0007623 - circadian rhythm |
| • GO:0016055 - Wnt signaling pathway | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm |
Pathways
• Circadian rhythm (KEGG: hsa04710)
• Wnt signaling pathway (KEGG: hsa04310)
• Hippo signaling pathway (KEGG: hsa04390)
• Cell cycle (Reactome: R-HSA-1640170)
Protein Summary
Casein kinase 1 epsilon (CK1ε) is a 416-amino acid serine/threonine protein kinase with a conserved N-terminal catalytic domain and a C-terminal regulatory domain. It phosphorylates substrates involved in circadian rhythm (PER1, PER2, PER3), Wnt signaling (β-catenin, DVL), and DNA damage response (p53, MDM2). CK1ε is ubiquitously expressed but enriched in brain and testis. Its activity is regulated by autophosphorylation and interaction with scaffold proteins. Structural studies reveal a typical bilobal kinase fold with an ATP-binding pocket targeted by small-molecule inhibitors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPTEP2-CSNK1E Knockout HEK293 Cell Line | EDJ-KQ1392 | Human | 102800317 | Details Get a Quote |
| CSNK1E Knockout HEK293 Cell Line | EDJ-KQ50215 | Human | 1454 | Details Get a Quote |
| CSNK1E Knockout HeLa Cell Line | EDJ-KQ53011 | Human | 1454 | Details Get a Quote |
| TPTEP2-CSNK1E Knockout HeLa Cell Line | EDJ-KQ61007 | Human | 102800317 | Details Get a Quote |
| CSNK1E Knockout A-549 Cell Line | EDJ-KQ61477 | Human | 1454 | Details Get a Quote |
| TPTEP2-CSNK1E Knockout A-549 Cell Line | EDJ-KQ69481 | Human | 102800317 | Details Get a Quote |
| CSNK1E Knockout HCT 116 Cell Line | EDJ-KQ69974 | Human | 1454 | Details Get a Quote |
| TPTEP2-CSNK1E Knockout HCT 116 Cell Line | EDJ-KQ77834 | Human | 102800317 | Details Get a Quote |
| CSNK1E Knockout HAP1 Cell Line | EDC08083 | Human | 1454 | Details Get a Quote |
Displaying Records 1 To 9 Of 9 Records
