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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CELA1
chymotrypsin like elastase 1
Chromosome 12 · 12q13.13
NCBI Gene: 1990Ensembl: ENSG00000139610.2HGNC: HGNC:3308UniProt: Q9UNI1
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
serine-type endopeptidase activityproteolysisinflammatory responseGO:0005615emphysemaspontaneous preterm birthdiabetes mellituschronic obstructive pulmonary disease
✦AI Summary

CELA1 (chymotrypsin-like elastase 1) is a serine protease that functions as a stretch-dependent elastinolytic enzyme primarily in the lung. 1 CELA1 exhibits pancreatic elastase-like activity 2 and is activated by trypsin cleavage. 2 In normal physiology, CELA1 participates in postnatal lung remodeling and elastin homeostasis in response to mechanical strain. 1 Mechanistically, CELA1 binds and cleaves lung elastin in a stretch-dependent manner, and is the sole source of stretch-inducible lung elastase activity. 1 Alpha-1 antitrypsin (AAT) covalently neutralizes CELA1 in vivo, regulating its protease activity. 1 CELA1 is pathologically relevant to emphysema development across multiple contexts. In AAT-deficient emphysema, CELA1 expression is upregulated, and Cela1-knockout mice are completely protected against disease. 1 Similarly, CELA1 contributes to emphysema in non-AAT-deficient models including pancreatic elastase injury, cigarette smoke exposure, and aging. 3 Notably, CELA1 mutations have been identified as candidate susceptibility genes for Balkan endemic nephropathy, a progressive renal disease, suggesting roles in basement membrane/extracellular matrix biology beyond the lung. 4, 5 Clinically, anti-CELA1 antibody KF4 prevents emphysema progression in multiple models and represents a potential lung matrix-stabilizing therapeutic approach. 3

Sources cited
1
CELA1 binds lung elastin in stretch-dependent manner, is the sole source of stretch-inducible lung elastase activity, and is regulated by AAT in emphysema
PMID: 29420065
2
Human CELA1 has pancreatic elastase-like activity and is activated by trypsin
PMID: 41520764
3
Anti-CELA1 antibody KF4 prevents emphysema in multiple models including PPE injury, cigarette smoke, and aging
PMID: 38193533
4
CELA1 mutations identified in Balkan endemic nephropathy patients as genes encoding proteins involved in basement membrane/extracellular matrix and angiogenesis
PMID: 25725245
5
CELA1 nominated as candidate gene for Balkan endemic nephropathy predisposition with possible deleterious variants affecting basement membrane and extracellular matrix
PMID: 24949484
Disease Associationsⓘ20
emphysemaOpen Targets
0.08Suggestive
spontaneous preterm birthOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
familial primary pulmonary hypoplasiaOpen Targets
0.04Suggestive
mucositisOpen Targets
0.03Suggestive
stomatitisOpen Targets
0.03Suggestive
chronic pancreatitisOpen Targets
0.03Suggestive
cystic fibrosisOpen Targets
0.03Suggestive
exocrine pancreatic insufficiencyOpen Targets
0.02Suggestive
acute pancreatitisOpen Targets
0.02Suggestive
pancreatic carcinomaOpen Targets
0.02Suggestive
gastrointestinal diseaseOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
pancreatitisOpen Targets
0.02Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
Abnormality of the pancreasOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SERPINA1Protein interaction97%CPA1Protein interaction74%PGA4Shared pathway50%PGA3Shared pathway50%CAPN14Shared pathway50%CTRB2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
22%
Lung
11%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CELA1SERPINA1CPA1PGA4PGA3CAPN14CTRB2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UNI1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.68–1.27]
RankingsWhere CELA1 stands among ~20K protein-coding genes
  • #12,526of 20,598
    Most Researched27
  • #13,371of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedCELA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Balkan nephropathy.
PMID: 25725245
Clin Nephrol · 2015
1.00
2
Anti-CELA1 antibody KF4 prevents emphysema by inhibiting stretch-mediated remodeling.
PMID: 38193533
JCI Insight · 2024
0.90
3
PMID: 36118032
Front Cell Infect Microbiol · 2022
0.80
4
Role for Cela1 in Postnatal Lung Remodeling and Alpha-1 Antitrypsin-Deficient Emphysema.
PMID: 29420065
Am J Respir Cell Mol Biol · 2018
0.70
5
Human CELA1 has pancreatic elastase-like activity.
PMID: 41520764
Biochimie · 2026
0.60