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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CILK1
ciliogenesis associated kinase 1
Chromosome 6 Β· 6p12.1
NCBI Gene: 22858Ensembl: ENSG00000112144.16HGNC: HGNC:21219UniProt: A0A7I2PIU1
54PubMed Papers
23Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein serine/threonine kinase activitycilium assemblynucleusprotein bindingendocrine-cerebro-osteodysplasia syndromecranioectodermal dysplasiashort rib-polydactyly syndromemicrophthalmia
✦AI Summary

CILK1 (ciliogenesis associated kinase 1) is a serine/threonine protein kinase essential for primary cilium biogenesis and function 1. The kinase requires dual phosphorylation of its TDY motif for activation and phosphorylates multiple substrates including ERK1 to regulate ciliary length and intraflagellar transport (IFT) speed in a cAMP and mTORC1-dependent manner 2. CILK1's intrinsically disordered C-terminal region mediates interaction with the scaffold protein KATNIP, which potentiates CILK1 activation and enhances its control of primary cilia 3. Functionally, CILK1 regulates ciliary localization of Sonic Hedgehog pathway components and IFT machinery at ciliary tips, negatively controlling cilium length and ciliation rate 4. CLINICAL SIGNIFICANCE: Mutations in CILK1 cause multiple ciliopathies. Homozygous kinase-domain mutations cause lethal skeletal dysplasias and endocrine-cerebroosteodysplasia 5, while non-catalytic domain variants associate with cranioectodermal dysplasia featuring skeletal abnormalities, renal failure, and liver fibrosis 5. A point mutation (A615T) in the C-terminal region causes juvenile myoclonic epilepsy through impaired KATNIP-mediated regulation and defective Hedgehog signaling 6. Beyond ciliopathies, CILK1 overexpression promotes breast cancer proliferation and chemoresistance via ERK1 phosphorylation, suggesting therapeutic potential for CILK1 inhibitors 2.

Sources cited
1
CILK1 is a widely expressed serine/threonine kinase with fundamental role in cilium function, and mutations associate with ciliopathies
PMID: 31506943
2
CILK1 phosphorylates ERK1 to promote cancer cell proliferation and chemoresistance
PMID: 38725848
3
KATNIP scaffold protein enhances CILK1 activation and control of primary cilia length through binding to CILK1's C-terminal region
PMID: 37665596
4
KATNIP uses separate domains to bind and activate CILK1, enabling CILK1 function in cilia formation and restriction of cilia length
PMID: 40621737
5
Homozygous frameshift CILK1 variant in non-catalytic domain causes cranioectodermal dysplasia with reduced cilia number, increased length, and disrupted IFT localization
PMID: 40615527
6
Epilepsy-associated A615T variant in CILK1's C-terminal region compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling
PMID: 39120290
Disease Associationsβ“˜23
endocrine-cerebro-osteodysplasia syndromeOpen Targets
0.62Moderate
cranioectodermal dysplasiaOpen Targets
0.35Weak
short rib-polydactyly syndromeOpen Targets
0.26Weak
colobomaOpen Targets
0.15Weak
Dysplastic corpus callosumOpen Targets
0.15Weak
microphthalmiaOpen Targets
0.15Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
substance abuseOpen Targets
0.07Suggestive
atelosteogenesis type IIOpen Targets
0.06Suggestive
Achondrogenesis type 2Open Targets
0.05Suggestive
odontochondrodysplasia 1Open Targets
0.05Suggestive
myeloperoxidase deficiencyOpen Targets
0.05Suggestive
Mesomelic dwarfism - cleft palate - camptodactylyOpen Targets
0.05Suggestive
mesomelic dwarfism-cleft palate-camptodactyly syndromeOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
liver diseaseOpen Targets
0.05Suggestive
metatropic dysplasiaOpen Targets
0.05Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.05Suggestive
Schmid metaphyseal chondrodysplasiaOpen Targets
0.05Suggestive
Cranioectodermal dysplasia 6UniProt
Endocrine-cerebroosteodysplasiaUniProt
Juvenile myoclonic epilepsy 10UniProt
Pathogenic Variants6
NM_014920.5(CILK1):c.-172-1G>ALikely pathogenic
Endocrine-cerebro-osteodysplasia syndrome
β˜…β˜†β˜†β˜†2025
NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)Pathogenic
Cranioectodermal dysplasia|Cranioectodermal dysplasia 6
β˜…β˜†β˜†β˜†2024β†’ Residue 555
NM_014920.5(CILK1):c.814C>T (p.Arg272Ter)Likely pathogenic
not provided|Epilepsy, juvenile myoclonic, susceptibility to, 10
β˜…β˜†β˜†β˜†2016β†’ Residue 272
NM_014920.5(CILK1):c.358G>T (p.Gly120Cys)Pathogenic
Endocrine-cerebro-osteodysplasia syndrome|Papillary renal cell carcinoma type 1
β˜†β˜†β˜†β˜†2019β†’ Residue 120
NM_014920.5(CILK1):c.815G>A (p.Arg272Gln)Pathogenic
Endocrine-cerebro-osteodysplasia syndrome
β˜†β˜†β˜†β˜†2009β†’ Residue 272
NM_014920.5(CILK1):c.238G>A (p.Glu80Lys)Likely pathogenic
Short rib-polydactyly syndrome
β˜†β˜†β˜†β˜†β†’ Residue 80
View on ClinVar β†—
Related Genes
MCM5Protein interaction100%MCM4Protein interaction100%ORC3Protein interaction100%ORC5Protein interaction100%ORC4Protein interaction100%MCM7Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
70%
Ovary
65%
Liver
52%
Lung
40%
Bone Marrow
40%
Gene Interaction Network
Click a node to explore
CILK1MCM5MCM4ORC3ORC5ORC4MCM7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UPZ9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.46–0.77]
RankingsWhere CILK1 stands among ~20K protein-coding genes
  • #8,294of 20,598
    Most Researched54
  • #3,391of 5,498
    Most Pathogenic Variants6
  • #6,291of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedCILK1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia.
PMID: 40621737
J Cell Sci Β· 2025
1.00
2
Ciliogenesis associated kinase 1: targets and functions in various organ systems.
PMID: 31506943
FEBS Lett Β· 2019
0.90
3
Ciliogenesis-associated Kinase 1 Promotes Breast Cancer Cell Proliferation and Chemoresistance via Phosphorylating ERK1.
PMID: 38725848
Int J Biol Sci Β· 2024
0.80
4
CDKL kinase regulates the length of the ciliary proximal segment.
PMID: 33857430
Curr Biol Β· 2021
0.70
5
An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.
PMID: 39120290
Cells Β· 2024
0.60