CSNK1G1: Casein Kinase 1 Gamma 1
A serine/threonine protein kinase involved in Wnt signaling, circadian rhythm, and DNA damage response.
Gene Information Card
| Symbol | CSNK1G1 |
|---|---|
| Full Name | Casein Kinase 1 Gamma 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 53944 ncbi.nlm.nih.gov/gene/53944 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9HCP0 |
| OMIM ID | 606447 |
| HGNC ID | 2453 |
| Aliases | CK1gamma1, CSNK1G, CKI-gamma 1 |
Description
CSNK1G1 encodes a member of the casein kinase I (CKI) family of serine/threonine protein kinases. This kinase phosphorylates a wide range of substrates involved in cell cycle regulation, Wnt signaling, circadian rhythm, and DNA damage response. It is ubiquitously expressed with highest levels in testis and brain. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered CSNK1G1 expression may disrupt Wnt/β-catenin signaling, promoting tumorigenesis. | COSMIC; PMID: 23555202 |
| Colorectal cancer | Mutations in CSNK1G1 have been identified in colorectal tumors, potentially affecting kinase activity. | COSMIC; PMID: 22895193 |
| Lung cancer | Somatic mutations and copy number alterations observed in lung adenocarcinoma. | COSMIC; PMID: 26619011 |
| Hepatocellular carcinoma | Overexpression linked to poor prognosis; may modulate β-catenin degradation. | PMID: 29174920 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Liver | 6.3 | Low |
| Lung | 5.1 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | Embryonic kidney; high expression |
| HeLa | 12.1 | Cervical carcinoma; moderate expression |
| A549 | 8.7 | Lung carcinoma; moderate expression |
| MCF7 | 6.5 | Breast carcinoma; low expression |
| HepG2 | 5.2 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.472G>A (p.Glu158Lys) | Missense | <0.01% | Unknown; predicted damaging by PolyPhen-2 |
| c.784_785insA (p.Thr262Asnfs*5) | Frameshift | <0.01% | Loss of function; truncation |
| c.1024G>T (p.Glu342*) | Nonsense | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr262Asnfs*5, p.Glu342*) lead to truncated protein lacking kinase domain, resulting in loss of kinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CSNK1G1 to date.
Dominant Negative (DN)
Not established; potential dominant-negative effects have not been characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Circadian Clock (Reactome: R-HSA-400253)
• Cell Cycle Checkpoints (Reactome: R-HSA-69620)
• DNA Damage/Telomere Stress Induced Senescence (Reactome: R-HSA-2559586)
Protein Summary
CSNK1G1 is a 422-amino acid serine/threonine protein kinase (UniProt Q9HCP0) with a conserved N-terminal kinase domain and a C-terminal regulatory domain. It phosphorylates substrates such as β-catenin, PERIOD proteins, and p53, thereby regulating Wnt signaling, circadian rhythms, and cell cycle progression. The protein is widely expressed and localizes to both cytoplasm and nucleus. Post-translational modifications include autophosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSNK1G1 Knockout HEK293 Cell Line | EDJ-KQ886 | Human | 53944 | Details Get a Quote |
| CSNK1G1 Knockout HeLa Cell Line | EDJ-KQ18379 | Human | 53944 | Details Get a Quote |
| CSNK1G1 Knockout A-549 Cell Line | EDJ-KQ19717 | Human | 53944 | Details Get a Quote |
| CSNK1G1 Knockout HCT 116 Cell Line | EDJ-KQ19718 | Human | 53944 | Details Get a Quote |
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