NCS1 (Neuronal Calcium Sensor 1)
A key regulator of calcium signaling in neurons and beyond
Gene Information Card
| Symbol | NCS1 |
|---|---|
| Full Name | Neuronal Calcium Sensor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 23413 ncbi.nlm.nih.gov/gene/23413 |
| Ensembl ID | ENSG00000107130 |
| UniProt ID | P62166 |
| OMIM ID | 603315 |
| HGNC ID | 7659 |
| Aliases | FREQ, FLUP, NCS-1, frequenin homolog (Drosophila) |
Description
NCS1 (Neuronal Calcium Sensor 1) encodes a member of the neuronal calcium sensor family of calcium-binding proteins. The protein is highly conserved and expressed predominantly in neurons, where it modulates calcium-dependent signal transduction, neurotransmitter release, and synaptic plasticity. NCS1 also plays roles in cell proliferation, differentiation, and survival. Mutations and altered expression have been implicated in neurodevelopmental disorders, psychiatric conditions, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and dysmorphic features | Missense variants impair calcium binding and protein stability, leading to altered neuronal signaling | ClinVar, OMIM |
| Schizophrenia | Increased NCS1 expression in prefrontal cortex may disrupt dopamine receptor signaling | NCBI Gene, PubMed |
| Breast cancer | Overexpression of NCS1 promotes cell proliferation and migration via calcium/calmodulin-dependent pathways | COSMIC, PubMed |
| Colorectal cancer | NCS1 upregulation correlates with poor prognosis and enhanced tumor growth | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 48.2 | High |
| Cerebellum | 35.1 | High |
| Heart | 12.3 | Medium |
| Liver | 2.1 | Low |
| Pancreas | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.4 | High expression; used in neuronal differentiation studies |
| HEK293 (embryonic kidney) | 18.7 | Moderate; common for recombinant expression |
| MCF7 (breast cancer) | 45.3 | Elevated compared to normal breast tissue |
| HCT116 (colorectal cancer) | 38.9 | Upregulated; associated with tumor progression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | Rare | Impaired calcium binding; associated with neurodevelopmental disorder |
| c.434C>T (p.Thr145Met) | Missense | Rare | Reduced protein stability; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Likely loss of function; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly113Arg and p.Thr145Met reduce calcium binding affinity and protein stability, leading to impaired neuronal signaling.
Gain of Function (GOF)
Overexpression in cancer cells (e.g., breast, colorectal) suggests a potential gain-of-function role in promoting proliferation and migration.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported to date.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Neurotrophin signaling pathway (KEGG: hsa04722)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
NCS1 is a 190-amino-acid calcium-binding protein (UniProt P62166) containing four EF-hand motifs. It undergoes a conformational change upon calcium binding, enabling interaction with target proteins such as phosphatidylinositol 4-kinase III beta (PI4KB) and dopamine D2 receptor. NCS1 is involved in regulating neurotransmitter release, neuronal excitability, and cell survival. Its expression is highest in the brain, with moderate levels in heart and low levels in other tissues. Dysregulation contributes to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCS1 Knockout HEK293 Cell Line | EDJ-KQ8004 | Human | 23413 | Details Get a Quote |
| NCS1 Knockout A-549 Cell Line | EDJ-KQ33756 | Human | 23413 | Details Get a Quote |
| NCS1 Knockout HCT 116 Cell Line | EDJ-KQ33757 | Human | 23413 | Details Get a Quote |
| NCS1 Knockout HeLa Cell Line | EDJ-KQ33758 | Human | 23413 | Details Get a Quote |
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