CNN1 Gene - Calponin 1
Comprehensive gene information for CNN1, encoding a smooth muscle-specific actin-binding protein involved in contraction and cytoskeletal regulation.
Gene Information Card
| Symbol | CNN1 |
|---|---|
| Full Name | calponin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 1264 ncbi.nlm.nih.gov/gene/1264 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | P51911 |
| OMIM ID | 600806 |
| HGNC ID | 2155 |
| Aliases | SMCC, Cg22, h1, SM22-alpha |
Description
The CNN1 gene encodes calponin 1, a smooth muscle-specific protein that binds actin, tropomyosin, and calmodulin. It regulates smooth muscle contraction by inhibiting actomyosin ATPase activity and stabilizing the actin cytoskeleton. CNN1 is a marker of differentiated smooth muscle cells and is implicated in vascular remodeling and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aortic aneurysm | Altered smooth muscle contractility due to CNN1 dysregulation | PMID: 25611685 |
| Coronary artery disease | Reduced CNN1 expression linked to vascular smooth muscle cell phenotype switching | PMID: 23348766 |
| Leiomyoma | Overexpression of CNN1 in uterine smooth muscle tumors | PMID: 15897866 |
| Colorectal cancer | Downregulation of CNN1 associated with tumor progression and metastasis | PMID: 21746838 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle (aorta) | 68.5 | High |
| Uterus | 45.2 | High |
| Stomach | 38.1 | High |
| Bladder | 32.7 | High |
| Heart | 2.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells (HAoSMC) | 72.1 | High expression |
| Uterine smooth muscle cells (UtSMC) | 55.8 | High expression |
| HEK 293 | 0.2 | Not detected |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.586C>T (p.Arg196Trp) | Missense | <0.01% | Unknown functional effect |
| c.742G>A (p.Gly248Ser) | Missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein production, leading to reduced smooth muscle contractility.
Gain of Function (GOF)
No gain-of-function mutations reported in CNN1.
Dominant Negative (DN)
No dominant-negative mutations reported in CNN1.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • calmodulin binding |
| • tropomyosin binding | • actin cytoskeleton organization |
| • smooth muscle contraction | • negative regulation of ATPase activity |
Pathways
• Smooth muscle contraction (Reactome: R-HSA-397014)
• Calmodulin-induced events (Reactome: R-HSA-111933)
Protein Summary
Calponin 1 is a 297-amino acid protein (33.6 kDa) that belongs to the calponin family. It contains three calponin homology (CH) domains and a C-terminal calmodulin-binding domain. The protein binds F-actin and inhibits actomyosin ATPase activity in a calcium/calmodulin-dependent manner. It is highly expressed in differentiated smooth muscle cells and plays a key role in maintaining contractile phenotype. Phosphorylation by protein kinase C or CaMKII reduces its actin-binding affinity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNN1 Knockout HEK293 Cell Line | EDJ-KQ1925 | Human | 1264 | Details Get a Quote |
| SCNN1D Knockout HEK293 Cell Line | EDJ-KQ3283 | Human | 6339 | Details Get a Quote |
| KCNN1 Knockout HEK293 Cell Line | EDJ-KQ5046 | Human | 3780 | Details Get a Quote |
| SCNN1G Knockout HEK293 Cell Line | EDJ-KQ5721 | Human | 6340 | Details Get a Quote |
| SCNN1A Knockout HEK293 Cell Line | EDJ-KQ5724 | Human | 6337 | Details Get a Quote |
| SCNN1B Knockout HEK293 Cell Line | EDJ-KQ5727 | Human | 6338 | Details Get a Quote |
| SCNN1A Knockout A-549 Cell Line | EDJ-KQ29114 | Human | 6337 | Details Get a Quote |
| SCNN1A Knockout HeLa Cell Line | EDJ-KQ29116 | Human | 6337 | Details Get a Quote |
| SCNN1B Knockout A-549 Cell Line | EDJ-KQ29117 | Human | 6338 | Details Get a Quote |
| CNN1 Knockout A-549 Cell Line | EDJ-KQ21850 | Human | 1264 | Details Get a Quote |
| CNN1 Knockout HeLa Cell Line | EDJ-KQ21851 | Human | 1264 | Details Get a Quote |
| SCNN1D Knockout HeLa Cell Line | EDJ-KQ23458 | Human | 6339 | Details Get a Quote |
| SCNN1D Knockout A-549 Cell Line | EDJ-KQ24845 | Human | 6339 | Details Get a Quote |
| SCNN1D Knockout HCT 116 Cell Line | EDJ-KQ24846 | Human | 6339 | Details Get a Quote |
| SCNN1A Knockout HCT 116 Cell Line | EDJ-KQ27857 | Human | 6337 | Details Get a Quote |
Displaying Records 1 To 15 Of 25 Records
