CLK1: CDC Like Kinase 1
A key regulator of alternative splicing and cellular signaling
Gene Information Card
| Symbol | CLK1 |
|---|---|
| Full Name | CDC like kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 1195 ncbi.nlm.nih.gov/gene/1195 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | P49759 |
| OMIM ID | 602508 |
| HGNC ID | 2068 |
| Aliases | CLK, STY, hCLK1 |
Description
CLK1 (CDC like kinase 1) encodes a dual-specificity protein kinase that phosphorylates serine, threonine, and tyrosine residues. It regulates alternative splicing by phosphorylating SR proteins and is involved in cell cycle control, RNA processing, and cellular signaling. CLK1 is implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and altered splicing of oncogenes | COSMIC, ClinVar |
| Colorectal cancer | CLK1 amplification and increased kinase activity | COSMIC |
| Alzheimer disease | Dysregulation of tau splicing via SR protein phosphorylation | NCBI Gene, OMIM |
| Hepatocellular carcinoma | Upregulation promoting cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| MCF7 | 18.5 | Breast cancer cell line |
| HepG2 | 9.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Glu349Lys) | Missense | 0.02% | Unknown functional effect |
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Potential loss of kinase activity |
| Amplification | Copy number gain | 2.5% in breast cancer | Increased expression |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg412Trp) may reduce kinase activity.
Gain of Function (GOF)
Amplification and overexpression in cancers suggest gain-of-function.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase activity (GO:0004672) | • protein tyrosine kinase activity (GO:0004713) |
| • mRNA processing (GO:0006397) | • RNA splicing (GO:0008380) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Alternative splicing regulation
• SR protein phosphorylation
• Cell cycle control
Protein Summary
CLK1 is a 484-amino acid dual-specificity kinase with an N-terminal RS domain and a C-terminal kinase domain. It phosphorylates SR splicing factors, modulating their activity and localization. CLK1 is predominantly nuclear and regulates pre-mRNA splicing of genes involved in cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLK1 Knockout HEK293 Cell Line | EDJ-KQ106 | Human | 1195 | Details Get a Quote |
| CLK1 Knockout A-549 Cell Line | EDJ-KQ42156 | Human | 1195 | Details Get a Quote |
| CLK1 Knockout HCT 116 Cell Line | EDJ-KQ42157 | Human | 1195 | Details Get a Quote |
| CLK1 Knockout HeLa Cell Line | EDJ-KQ42158 | Human | 1195 | Details Get a Quote |
| CLK1 Knockout HAP1 Cell Line | EDC09085 | Human | 1195 | Details Get a Quote |
