CALN1: Calneuron 1 Gene
A calcium-binding protein gene implicated in neuronal function and synaptic signaling
Gene Information Card
| Symbol | CALN1 |
|---|---|
| Full Name | Calneuron 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q11.22 |
| NCBI Gene ID | 83698 ncbi.nlm.nih.gov/gene/83698 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q9BXU9 |
| OMIM ID | 607276 |
| HGNC ID | 24174 |
| Aliases | CABP8, calneuron-1 |
Description
CALN1 encodes calneuron 1, a member of the calmodulin-like calcium-binding protein family. It is predominantly expressed in the brain and plays a role in calcium-dependent regulation of neuronal signaling, synaptic plasticity, and vesicle trafficking. The protein contains two EF-hand calcium-binding domains and is involved in modulating ion channels and neurotransmitter release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Altered calcium signaling affecting synaptic function | ClinVar |
| Autism spectrum disorder | Disruption of neuronal calcium homeostasis | ClinVar |
| Schizophrenia | Potential dysregulation of CALN1 expression in prefrontal cortex | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Testis | 3.1 | Low |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U-87 MG (glioblastoma) | 6.7 | Glial model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | Rare | Altered calcium binding affinity |
| c.112C>T (p.Arg38Cys) | Missense | Rare | Potential loss of function |
| c.763_764del (p.Leu255fs) | Frameshift | Very rare | Truncated protein, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated or unstable protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • Calcium ion binding | • Calmodulin binding |
| • Neuronal cell body | • Synapse |
| • Regulation of neurotransmitter secretion |
Pathways
• Calcium signaling pathway
• Synaptic vesicle cycle
Protein Summary
Calneuron 1 is a 22 kDa calcium-binding protein with two EF-hand motifs. It localizes to the Golgi apparatus and postsynaptic densities, where it modulates calcium-dependent processes such as ion channel activity and exocytosis. Its expression is enriched in the central nervous system, particularly in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALN1 Knockout HEK293 Cell Line | EDJ-KQ9888 | Human | 83698 | Details Get a Quote |
| CALN1 Knockout HeLa Cell Line | EDJ-KQ57467 | Human | 83698 | Details Get a Quote |
| CALN1 Knockout A-549 Cell Line | EDJ-KQ65971 | Human | 83698 | Details Get a Quote |
| CALN1 Knockout HCT 116 Cell Line | EDJ-KQ74394 | Human | 83698 | Details Get a Quote |
