CILK1
Ciliogenesis Associated Kinase 1
Gene Information Card
| Symbol | CILK1 |
|---|---|
| Full Name | ciliogenesis associated kinase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 56965 ncbi.nlm.nih.gov/gene/56965 |
| Ensembl ID | ENSG00000111880 |
| UniProt ID | Q9H0R8 |
| OMIM ID | 612325 |
| HGNC ID | 21219 |
| Aliases | KIAA0930, ICCK, MGC138499, MGC138501 |
Description
CILK1 (ciliogenesis associated kinase 1) encodes a serine/threonine kinase that localizes to the ciliary base and is essential for ciliogenesis and ciliary length control. It phosphorylates key ciliary proteins and regulates intraflagellar transport. Mutations in CILK1 cause ciliopathies including nephronophthisis and Joubert syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 15 | Loss-of-function mutations impair ciliary signaling, leading to renal fibrosis and cyst formation | ClinVar, OMIM #614844 |
| Joubert syndrome 20 | Defective ciliogenesis disrupts cerebellar and retinal development | OMIM #614844, PubMed 27158779 |
| Endocrine-cerebro-osteodysplasia (ECO) | Severe loss-of-function causes multisystem ciliary defects | OMIM #612325, PubMed 27158779 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 6.5 | Low |
| Lung | 4.2 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate |
| HepG2 | 5.3 | Low |
| A549 | 4.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2150G>A (p.Arg717Gln) | Missense | Rare | Impaired kinase activity, reduced ciliogenesis |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Dominant-negative effect on ciliary length |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg80*) lead to truncated protein and complete loss of kinase activity, causing severe ciliopathies.
Gain of Function (GOF)
Not reported for CILK1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg488Trp) may interfere with wild-type CILK1 function, disrupting ciliary length regulation.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ciliary base |
| • ciliogenesis | • cilium assembly |
| • intraflagellar transport | • ATP binding |
Pathways
• Ciliogenesis
• Hedgehog signaling
• Wnt signaling
Protein Summary
CILK1 is a 1196-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal regulatory region. It localizes to the ciliary base and phosphorylates KIF3A and other IFT components to regulate ciliary assembly and disassembly. The protein is essential for primary cilium function in renal epithelial cells and neuronal progenitors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CILK1 Knockout HEK293 Cell Line | EDJ-KQ2773 | Human | 22858 | Details Get a Quote |
| CILK1 Knockout HCT 116 Cell Line | EDJ-KQ22315 | Human | 22858 | Details Get a Quote |
| CILK1 Knockout A-549 Cell Line | EDJ-KQ23683 | Human | 22858 | Details Get a Quote |
| CILK1 Knockout HeLa Cell Line | EDJ-KQ23684 | Human | 22858 | Details Get a Quote |
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