CDKL1: Cyclin Dependent Kinase Like 1
A member of the CDKL family of serine/threonine kinases with roles in cell cycle regulation and neuronal development.
Gene Information Card
| Symbol | CDKL1 |
|---|---|
| Full Name | Cyclin Dependent Kinase Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 8814 ncbi.nlm.nih.gov/gene/8814 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q00532 |
| OMIM ID | 603442 |
| HGNC ID | 1781 |
| Aliases | KKIAMRE, P42, CDC2L1 |
Description
CDKL1 (Cyclin Dependent Kinase Like 1) is a protein-coding gene that belongs to the cyclin-dependent kinase (CDK) family. The encoded protein is a serine/threonine kinase involved in cell cycle progression, neuronal differentiation, and synaptic plasticity. CDKL1 is expressed in multiple tissues, with highest levels in brain and testis. Mutations and altered expression have been implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with early-onset epilepsy | Loss of kinase activity due to missense mutations | ClinVar |
| Breast cancer | Overexpression and amplification | COSMIC |
| Colorectal cancer | Somatic mutations and altered expression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression |
| HEK293 (embryonic kidney) | 6.5 | Medium expression |
| HeLa (cervical carcinoma) | 4.2 | Low expression |
| MCF7 (breast cancer) | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.1% | Reduced kinase activity |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Loss of function |
| c.1024_1025insA (p.Thr342Asnfs*5) | Frameshift | <0.1% | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in the kinase domain reduce or abolish catalytic activity, linked to neurodevelopmental phenotypes.
Gain of Function (GOF)
Not well documented; some cancer-associated amplifications may lead to increased kinase activity.
Dominant Negative (DN)
Not reported for CDKL1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell cycle (KEGG hsa04110)
• Neurotrophin signaling pathway (KEGG hsa04722)
• Signaling by Receptor Tyrosine Kinases (Reactome R-HSA-9006934)
Protein Summary
CDKL1 encodes a 42 kDa serine/threonine kinase (UniProt Q00532) with an N-terminal kinase domain and a C-terminal regulatory region. It is predominantly cytoplasmic and nuclear, and its activity is regulated by phosphorylation. CDKL1 phosphorylates substrates involved in cell cycle control and cytoskeletal dynamics. In neurons, it modulates dendritic spine morphology and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDKL1 Knockout HEK293 Cell Line | EDJ-KQ2037 | Human | 8814 | Details Get a Quote |
| CDKL1 Knockout A-549 Cell Line | EDJ-KQ22076 | Human | 8814 | Details Get a Quote |
| CDKL1 Knockout HCT 116 Cell Line | EDJ-KQ22077 | Human | 8814 | Details Get a Quote |
| CDKL1 Knockout HeLa Cell Line | EDJ-KQ22078 | Human | 8814 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
