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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CAPNS1
calpain small subunit 1
Chromosome 19 · 19q13.12
NCBI Gene: 826Ensembl: ENSG00000126247.11HGNC: HGNC:1481UniProt: A0A0C4DGQ5
130PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingcalcium-dependent cysteine-type endopeptidase activitycytosolpulmonary hypertension, primary, 6Alzheimer diseaseneurodegenerative diseasenasopharyngeal carcinoma
✦AI Summary

CAPNS1 encodes the regulatory small subunit of calpain proteases, which are calcium-dependent cysteine proteases essential for cellular functions. 1 This 28-kDa protein stabilizes and activates both μ- and m-calpain catalytic subunits, which contain the proteolytic activity. 2 CAPNS1 regulates diverse cellular processes including cytoskeletal remodeling, focal adhesion dynamics, autophagy, apoptosis, and cell migration. 2 Mechanistically, calpain-mediated proteolysis targets proteins like talin-1, vinculin, and integrin-alpha-V, modulating endothelial integrity and cell-cell adhesion. 3 Clinically, CAPNS1 dysregulation associates with multiple pathologies. Endothelial-specific CAPNS1 deletion mitigates thoracic aortic dissection by preventing focal adhesion disruption and endothelial barrier dysfunction. 3 In cancer, elevated CAPNS1 promotes cisplatin resistance in gastric cancer by suppressing caspase-3-mediated apoptosis and can be suppressed by miR-99a and miR-491. 4 CAPNS1 overexpression correlates with poor prognosis in renal cell carcinoma, promoting invasion and metastasis through increased MMP2/9 expression. 5 In type 2 diabetes, CAPNS1 upregulation drives junctophilin-2 cleavage and cardiac dysfunction. 6 Emerging evidence identifies CAPNS1 as a vesicular biomarker for HBV-associated hepatocellular carcinoma detection. 7

Sources cited
1
Endothelial-specific Capns1 deletion mitigates thoracic aortic dissection by reducing focal adhesion damage and endothelial dysfunction; elevated calpain activity associated with TAD risk
PMID: 40171827
2
CAPNS1 identified as a potential vesicular protein biomarker for distinguishing HBV-HCC from other liver conditions
PMID: 39207047
3
CAPNS1 encodes the 28-kDa regulatory subunit required for stability and activity of both calpains; transcriptional regulation involves NRF-1, AP-1, and Sp1 binding elements
PMID: 18234454
4
miR-99a and miR-491 upregulation in cisplatin-resistant gastric cancer cells targets CAPNS1; CAPNS1 downregulation reduces apoptosis and promotes drug resistance
PMID: 27994509
5
CAPNS1 is expressed in tumor-associated fibroblasts in gastric cancer ovarian metastasis tissues; associated with poor prognosis
PMID: 39162990
6
CAPNS1 depletion impairs autophagy and increases apoptosis sensitivity; calpains required for autophagy and cancer cell survival
PMID: 17264674
7
CAPNS1 overexpression in renal cell carcinoma predicts poor prognosis; promotes migration and invasion through increased MMP2/9 expression
PMID: 33887737
8
CAPNS1 is a crucial gene in type 2 diabetic hearts; upregulation causes junctophilin-2 cleavage and cardiac dysfunction
PMID: 35242109
Disease Associationsⓘ21
pulmonary hypertension, primary, 6Open Targets
0.42Moderate
Alzheimer diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.28Weak
nasopharyngeal carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
systemic sclerodermaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
renal cell carcinomaOpen Targets
0.04Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.04Suggestive
prostate cancerOpen Targets
0.03Suggestive
lymphomaOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
Pulmonary hypertension, primary, 6UniProt
Pathogenic Variants2
NM_001749.4(CAPNS1):c.721+1G>APathogenic
Pulmonary hypertension, primary, 6
☆☆☆☆2024
NM_001749.4(CAPNS1):c.210-2A>GPathogenic
Pulmonary hypertension, primary, 6
☆☆☆☆2024
View on ClinVar ↗
Related Genes
CAPN2Protein interaction100%CAPN6Protein interaction97%CAPN5Protein interaction89%CAPN1Protein interaction85%CAPN7Protein interaction83%CAPNS2Protein interaction82%
Tissue Expression6 tissues
Heart
100%
Lung
77%
Brain
58%
Ovary
43%
Liver
36%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
CAPNS1CAPN2CAPN6CAPN5CAPN1CAPN7CAPNS2
PROTEIN STRUCTURE
Preparing viewer…
PDB4PHJ · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.62–1.19]
RankingsWhere CAPNS1 stands among ~20K protein-coding genes
  • #3,584of 20,598
    Most Researched130 · top quartile
  • #4,284of 5,498
    Most Pathogenic Variants2
  • #12,442of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedCAPNS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Calpain-2-Mediated Endothelial Focal Adhesion Disruption in Thoracic Aortic Dissection.
PMID: 40171827
Adv Sci (Weinh) · 2025
1.00
2
The trajectory of vesicular proteomic signatures from HBV-HCC by chitosan-magnetic bead-based separation and DIA-proteomic analysis.
PMID: 39207047
J Extracell Vesicles · 2024
0.90
3
NRF-1, and AP-1 regulate the promoter of the human calpain small subunit 1 (CAPNS1) gene.
PMID: 18234454
Gene · 2008
0.80
4
MiR-99a and MiR-491 Regulate Cisplatin Resistance in Human Gastric Cancer Cells by Targeting CAPNS1.
PMID: 27994509
Int J Biol Sci · 2016
0.70
5
Single-cell RNA transcriptomic analyses of tumor microenvironment of ovarian metastasis in gastric cancer.
PMID: 39162990
Cell Oncol (Dordr) · 2024
0.60