DCLK1 (Doublecortin Like Kinase 1): A Multifunctional Kinase in Neurodevelopment and Cancer
Explore the genomic context, expression patterns, disease associations, and mutation landscape of DCLK1, a key regulator of microtubule dynamics and a putative cancer stem cell marker.
Gene Information Card
| Symbol | DCLK1 |
|---|---|
| Full Name | Doublecortin Like Kinase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 9201 ncbi.nlm.nih.gov/gene/9201 |
| Ensembl ID | ENSG00000133083 |
| UniProt ID | O15075 |
| OMIM ID | 604742 |
| HGNC ID | 2700 |
| Aliases | DCAMKL1, DCDC3A, CL1, DCLK |
Description
DCLK1 (Doublecortin Like Kinase 1) encodes a protein kinase that belongs to the doublecortin family. It contains two N-terminal doublecortin domains that bind microtubules and a C-terminal serine/threonine kinase domain. DCLK1 is involved in neuronal migration, microtubule polymerization, and has been implicated in various cancers as a potential stem cell marker. Alternative splicing produces multiple isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, colorectal, lung, etc.) | DCLK1 is overexpressed in cancer stem cells and promotes tumorigenesis, epithelial-mesenchymal transition (EMT), and chemoresistance. | COSMIC, PubMed (via NCBI) |
| Neurodevelopmental disorders | Mutations in DCLK1 have been associated with intellectual disability and epilepsy, likely due to impaired neuronal migration. | ClinVar, OMIM |
| Inflammatory bowel disease (IBD) | DCLK1 marks tuft cells in the intestine, which are involved in immune responses and may contribute to IBD pathology. | PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in cerebral cortex and hippocampus |
| Testis | Medium | Moderate expression |
| Intestine | Medium | Expressed in tuft cells |
| Pancreas | Low | Low expression in normal tissue |
| Lung | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal-like cells |
| HCT116 (colorectal carcinoma) | Medium | Cancer stem cell subpopulation |
| MIA PaCa-2 (pancreatic cancer) | Medium | Overexpressed in aggressive cells |
| A549 (lung carcinoma) | Low | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg487His | Missense | Rare | Potential loss of function, associated with neurodevelopmental delay |
| p.Val583Met | Missense | Rare | Uncertain significance |
| p.Gly530Asp | Missense | Rare | Uncertain significance |
| Copy number gains | CNV | Frequent in tumors | Overexpression in cancers |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DCLK1 may impair microtubule binding and kinase activity, leading to neuronal migration defects.
Gain of Function (GOF)
Gain-of-function mutations or overexpression can enhance kinase activity, promoting cell proliferation and survival in cancer.
Dominant Negative (DN)
Dominant-negative isoforms (e.g., lacking kinase domain) may interfere with wild-type DCLK1 function, affecting microtubule dynamics.
View complete mutation data:
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • microtubule binding | • microtubule polymerization |
| • neuronal migration | • cell differentiation |
| • cell proliferation | • apoptotic process |
| • nervous system development |
Pathways
• Microtubule cytoskeleton regulation
• Wnt signaling pathway (via DCLK1 in cancer stem cells)
• Notch signaling (crosstalk)
• Epithelial-mesenchymal transition (EMT)
Protein Summary
The DCLK1 protein is a 740-amino-acid kinase with two doublecortin domains at the N-terminus that bind and stabilize microtubules, and a serine/threonine kinase domain at the C-terminus. It is involved in neuronal migration and differentiation. In cancer, DCLK1 is a marker for tumor-initiating cells and regulates self-renewal, EMT, and drug resistance. Multiple isoforms exist, including a kinase-dead variant that may act as a dominant-negative regulator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCLK1 Knockout HEK293 Cell Line | EDJ-KQ6503 | Human | 9201 | Details Get a Quote |
| DCLK1 Overexpression SCC-25 Stable Cell Line | EDJ0019-G03 | Human | 9201 | Details Get a Quote |
| DCLK1 Knockout HeLa Cell Line | EDJ-KQ77910 | Human | 9201 | Details Get a Quote |
| DCLK1 Knockout A-549 Cell Line | EDJ-KQ77911 | Human | 9201 | Details Get a Quote |
| DCLK1 Knockout HCT 116 Cell Line | EDJ-KQ77912 | Human | 9201 | Details Get a Quote |
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