CAMK1G
Calcium/Calmodulin Dependent Protein Kinase IG
Gene Information Card
| Symbol | CAMK1G |
|---|---|
| Full Name | Calcium/Calmodulin Dependent Protein Kinase IG |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.2 |
| NCBI Gene ID | 57172 ncbi.nlm.nih.gov/gene/57172 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q96NX5 |
| OMIM ID | 614793 |
| HGNC ID | 1460 |
| Aliases | CLICK3, VWS1, CaMKIgamma |
Description
CAMK1G (Calcium/Calmodulin Dependent Protein Kinase IG) 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, differentiation, and synaptic plasticity. It is activated by calmodulin binding and phosphorylation by CaMKK.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Van der Woude syndrome | Potential role in craniofacial development; mutations in related genes cause similar phenotypes | Limited; inferred from homology and OMIM 614793 |
| Intellectual disability | Altered calcium signaling affecting neuronal function | Case reports; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 6.2 | Low |
| Heart | 4.1 | Low |
| Liver | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| SH-SY5Y | 12.5 | Neuronal model |
| HeLa | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | Rare | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no confirmed loss-of-function variants reported
Gain of Function (GOF)
Not documented
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • calmodulin binding |
| • protein serine/threonine kinase activity | • calcium-dependent protein serine/threonine kinase activity |
| • intracellular signal transduction | • protein autophosphorylation |
Pathways
• Calcium signaling pathway
• Neurotrophin signaling pathway
• Long-term potentiation
Protein Summary
CAMK1G encodes a 416-amino acid protein (UniProt Q96NX5) belonging to the CaMKI subfamily. It contains a serine/threonine kinase domain and a calmodulin-binding domain. The protein is activated by Ca2+/calmodulin binding and phosphorylation by CaMKK, and it phosphorylates downstream targets involved in transcription regulation and cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMK1G Knockout HEK293 Cell Line | EDJ-KQ1639 | Human | 57172 | 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 |
