CPNE1 Gene: Copine 1
A calcium-dependent phospholipid-binding protein involved in membrane trafficking and signal transduction.
Gene Information Card
| Symbol | CPNE1 |
|---|---|
| Full Name | Copine 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 8904 ncbi.nlm.nih.gov/gene/8904 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q99829 |
| OMIM ID | 604205 |
| HGNC ID | 2316 |
| Aliases | CPN1, copine I |
Description
CPNE1 (Copine 1) is a protein-coding gene that encodes a calcium-dependent phospholipid-binding protein. Copine 1 is involved in membrane trafficking, signal transduction, and cell proliferation. It is ubiquitously expressed and has been implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell proliferation and invasion | COSMIC, ClinVar |
| Colorectal cancer | Upregulation associated with poor prognosis | COSMIC |
| Lung cancer | Altered expression linked to tumor progression | COSMIC |
| Schizophrenia | Genetic association studies suggest involvement | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 9.5 | Low |
| Kidney | 11.3 | Medium |
| Heart | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 14.2 | Lung cancer cell line |
| MCF7 | 16.7 | Breast cancer cell line |
| HEK293 | 12.1 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.02% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | 0.01% | Reported in COSMIC |
| c.457_459del (p.Lys153del) | In-frame deletion | 0.005% | Rare variant |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce calcium binding.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • calcium-dependent phospholipid binding (GO:0005544) |
| • cytoplasm (GO:0005737) | • membrane (GO:0016020) |
| • signal transduction (GO:0007165) |
Pathways
• Calcium signaling pathway
• Phospholipid binding and membrane trafficking
Protein Summary
Copine 1 is a 537-amino acid protein containing two C2 domains and an A domain. It binds calcium and phospholipids, mediating membrane interactions. The protein is involved in vesicle trafficking, cell adhesion, and proliferation. It is widely expressed and its dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE1 Knockout HEK293 Cell Line | EDJ-KQ3051 | Human | 8904 | Details Get a Quote |
| CPNE1 Knockout A-549 Cell Line | EDJ-KQ25674 | Human | 8904 | Details Get a Quote |
| CPNE1 Knockout HCT 116 Cell Line | EDJ-KQ25676 | Human | 8904 | Details Get a Quote |
| CPNE1 Knockout HeLa Cell Line | EDJ-KQ25677 | Human | 8904 | Details Get a Quote |
