CAMK1: Calcium/Calmodulin Dependent Protein Kinase I
A key regulator of calcium signaling, neuronal function, and cell cycle progression.
Gene Information Card
| Symbol | CAMK1 |
|---|---|
| Full Name | Calcium/Calmodulin Dependent Protein Kinase I |
| Gene Type | protein-coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 8536 ncbi.nlm.nih.gov/gene/8536 |
| Ensembl ID | ENSG00000114013 |
| UniProt ID | Q14012 |
| OMIM ID | 604998 |
| HGNC ID | 1459 |
| Aliases | CaMKI, CaM-KI, MGC120420 |
Description
CAMK1 encodes calcium/calmodulin-dependent protein kinase I, a member of the CaMKI subfamily of serine/threonine kinases. It is activated by calcium-bound calmodulin and phosphorylation by CaMKK. CAMK1 plays roles in neuronal differentiation, synaptic plasticity, cell cycle regulation, and hormone secretion. It is widely expressed in brain, testis, and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability | Disrupted calcium signaling and neuronal differentiation | ClinVar: pathogenic missense variants |
| Cancer (colorectal, breast) | Altered cell cycle progression and proliferation | COSMIC: somatic mutations and overexpression |
| Schizophrenia | Impaired synaptic plasticity and CaMKI signaling | OMIM: association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Heart | 4.1 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 6.8 | Moderate expression |
| MCF7 (breast cancer) | 9.1 | Elevated compared to normal breast |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.428G>A (p.Arg143Gln) | Missense | <0.01% | Reduced kinase activity; associated with intellectual disability (ClinVar) |
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Loss of function; reported in neurodevelopmental disorders (ClinVar) |
| c.784A>G (p.Ile262Val) | Missense | 0.02% | Unknown significance; found in cancer samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg143Gln, p.Arg335Trp) reduce or abolish kinase activity, impairing downstream signaling.
Gain of Function (GOF)
Not well documented; some cancer-associated variants may increase activity but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in literature or databases.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent protein serine/threonine kinase activity | • ATP binding |
| • calmodulin binding | • protein phosphorylation |
| • signal transduction | • nervous system development |
| • cell cycle |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Long-term potentiation (KEGG: hsa04720)
• GnRH signaling pathway (KEGG: hsa04912)
Protein Summary
CAMK1 is a 42 kDa serine/threonine kinase composed of an N-terminal catalytic domain, a regulatory domain with an autoinhibitory segment, and a calmodulin-binding region. Upon calcium influx, calmodulin binds and relieves autoinhibition, allowing activation by CaMKK. The active kinase phosphorylates substrates such as CREB, synapsin I, and HDAC5, regulating transcription, neurotransmitter release, and chromatin remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMK1D Knockout HEK293 Cell Line | EDJ-KQ1638 | Human | 57118 | Details Get a Quote |
| CAMK1G Knockout HEK293 Cell Line | EDJ-KQ1639 | Human | 57172 | Details Get a Quote |
| CAMK1 Knockout HEK293 Cell Line | EDJ-KQ1640 | Human | 8536 | Details Get a Quote |
| CAMK1 Knockout HCT 116 Cell Line | EDJ-KQ20017 | Human | 8536 | 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 |
| CAMK1 Knockout A-549 Cell Line | EDJ-KQ21365 | Human | 8536 | Details Get a Quote |
| CAMK1 Knockout HeLa Cell Line | EDJ-KQ21367 | Human | 8536 | Details Get a Quote |
| CAMK1G Knockout HeLa Cell Line | EDJ-KQ56819 | Human | 57172 | Details Get a Quote |
| CAMK1G Knockout A-549 Cell Line | EDJ-KQ65328 | Human | 57172 | Details Get a Quote |
| CAMK1G Knockout HCT 116 Cell Line | EDJ-KQ73765 | Human | 57172 | Details Get a Quote |
