CSNK1D Gene: Casein Kinase 1 Delta
A key regulator of circadian rhythm, DNA repair, and cell cycle progression; implicated in familial advanced sleep phase syndrome and cancer.
Gene Information Card
| Symbol | CSNK1D |
|---|---|
| Full Name | Casein Kinase 1 Delta |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 1453 ncbi.nlm.nih.gov/gene/1453 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | P48730 |
| OMIM ID | 600864 |
| HGNC ID | 2452 |
| Aliases | CK1δ, HCKID, FASPS2 |
Description
CSNK1D encodes casein kinase 1 delta (CK1δ), a serine/threonine protein kinase that phosphorylates a wide range of substrates involved in circadian rhythm regulation, Wnt signaling, DNA damage response, and cell cycle control. Mutations in CSNK1D cause familial advanced sleep phase syndrome type 2 (FASPS2) and are recurrently found in various cancers, including breast and colorectal tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial Advanced Sleep Phase Syndrome 2 (FASPS2) | Missense mutation (T44A) reduces CK1δ kinase activity, leading to altered PER2 phosphorylation and shortened circadian period. | OMIM #615224; ClinVar |
| Breast Cancer | Somatic mutations and overexpression of CSNK1D promote cell proliferation and resistance to apoptosis via Wnt/β-catenin pathway activation. | COSMIC; PubMed studies |
| Colorectal Cancer | Gain-of-function mutations (e.g., R178C) enhance kinase activity, driving β-catenin stabilization and tumorigenesis. | COSMIC; PMID: 25494299 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Colon | 10.1 | Medium |
| Liver | 6.7 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 14.8 | High expression |
| HCT116 (colorectal cancer) | 11.2 | Medium expression |
| HEK293 (embryonic kidney) | 9.5 | Medium expression |
| K562 (leukemia) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| T44A | Missense | <0.01% (rare germline) | Reduced kinase activity; causes FASPS2 |
| R178C | Missense | 0.5% (somatic in colorectal cancer) | Increased kinase activity; oncogenic |
| H46R | Missense | <0.01% (rare germline) | Loss of function; associated with circadian disorder |
Mutation functional classification
Loss of Function (LOF)
T44A, H46R: reduced PER2 phosphorylation, leading to shortened circadian period and FASPS2.
Gain of Function (GOF)
R178C: enhanced kinase activity, β-catenin stabilization, and oncogenic transformation.
Dominant Negative (DN)
Not reported for CSNK1D.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Circadian Entrainment (KEGG hsa04713)
• Wnt Signaling Pathway (KEGG hsa04310)
• DNA Damage Response (Reactome R-HSA-73894)
Protein Summary
Casein kinase 1 delta (CK1δ) is a 415-amino acid protein with an N-terminal kinase domain and a C-terminal regulatory domain. It phosphorylates key circadian clock proteins (PER2, CRY), Wnt pathway components (β-catenin, DVL), and DNA repair factors (p53, MDM2). CK1δ activity is tightly regulated by autophosphorylation and interaction with scaffolding proteins. Dysregulation of CK1δ contributes to circadian disorders and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSNK1D Knockout HEK293 Cell Line | EDJ-KQ1391 | Human | 1453 | Details Get a Quote |
| CSNK1D Knockout A-549 Cell Line | EDJ-KQ20912 | Human | 1453 | Details Get a Quote |
| CSNK1D Knockout HCT 116 Cell Line | EDJ-KQ20913 | Human | 1453 | Details Get a Quote |
| CSNK1D Knockout HeLa Cell Line | EDJ-KQ20914 | Human | 1453 | Details Get a Quote |
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