CAMK1D
Calcium/Calmodulin Dependent Protein Kinase ID
Gene Information Card
| Symbol | CAMK1D |
|---|---|
| Full Name | calcium/calmodulin dependent protein kinase ID |
| Gene Type | protein-coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 57118 ncbi.nlm.nih.gov/gene/57118 |
| Ensembl ID | ENSG00000183049 |
| UniProt ID | Q8IU85 |
| OMIM ID | 607957 |
| HGNC ID | 1464 |
| Aliases | CaMKI-delta, CaM-K1, CKLiK, CLICK3, DKFZp761E0918 |
Description
CAMK1D (calcium/calmodulin dependent protein kinase ID) is a protein-coding gene that encodes a member of the calcium/calmodulin-dependent protein kinase I (CaMKI) subfamily. This kinase is involved in calcium signaling pathways, regulating processes such as cell cycle progression, differentiation, and apoptosis. It is activated by phosphorylation via CaMKK and plays roles in neuronal function, immune response, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and altered splicing may promote tumor growth | PMID: 23455478 |
| Colorectal cancer | Upregulation linked to poor prognosis | PMID: 25691885 |
| Schizophrenia | Genetic variants associated with risk | PMID: 21926972 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 3.1 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 9.2 | Moderate expression |
| MCF7 | 14.1 | High expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | missense | 0.005% (gnomAD) | Potential loss of kinase activity |
| c.832_834del (p.Lys278del) | in-frame deletion | Rare | Altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the kinase domain (e.g., p.Glu153Lys) may reduce catalytic activity.
Gain of Function (GOF)
Not well documented; overexpression in tumors suggests possible gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • calmodulin binding |
| • ATP binding | • calcium-dependent protein serine/threonine kinase activity |
| • nucleus | • cytoplasm |
Pathways
• Calcium signaling pathway
• Neurotrophin signaling pathway
• GnRH signaling pathway
• Long-term potentiation
Protein Summary
CAMK1D is a 385-amino acid serine/threonine kinase with a catalytic domain and a calmodulin-binding region. It is activated by Ca2+/calmodulin and phosphorylation by CaMKK. The protein regulates transcription factors such as CREB and plays roles in neuronal plasticity, immune cell activation, and cell proliferation. Alternative splicing generates multiple isoforms with distinct tissue distributions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMK1D Knockout HEK293 Cell Line | EDJ-KQ1638 | Human | 57118 | Details Get a Quote |
| CAMK1D Knockout A-549 Cell Line | EDJ-KQ21362 | Human | 57118 | Details Get a Quote |
| CAMK1D Knockout HCT 116 Cell Line | EDJ-KQ21363 | Human | 57118 | Details Get a Quote |
| CAMK1D Knockout HeLa Cell Line | EDJ-KQ21364 | Human | 57118 | Details Get a Quote |
