CELA1: Chymotrypsin-Like Elastase 1
A serine protease involved in pancreatic digestion and extracellular matrix remodeling
Gene Information Card
| Symbol | CELA1 |
|---|---|
| Full Name | chymotrypsin-like elastase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 1990 ncbi.nlm.nih.gov/gene/1990 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | P08246 |
| OMIM ID | 130120 |
| HGNC ID | 3309 |
| Aliases | ELA1, elastase 1, pancreatic elastase 1 |
Description
CELA1 (chymotrypsin-like elastase 1) encodes a serine protease of the peptidase S1 family. The enzyme is synthesized in the pancreas and secreted into the digestive tract, where it hydrolyzes elastin and other proteins. It also participates in extracellular matrix remodeling and has been implicated in inflammatory and neoplastic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatitis | Dysregulated CELA1 activity may contribute to pancreatic autodigestion and inflammation | ClinVar, OMIM |
| Pancreatic cancer | Altered CELA1 expression observed in pancreatic ductal adenocarcinoma; potential role in tumor microenvironment remodeling | COSMIC, NCBI Gene |
| Cystic fibrosis | Reduced pancreatic elastase activity correlates with exocrine pancreatic insufficiency | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 1234.5 | High |
| Salivary gland | 12.3 | Low |
| Stomach | 8.7 | Low |
| Small intestine | 5.6 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 0.0 | No detectable expression |
| MIA PaCa-2 | 0.0 | No detectable expression |
| BxPC-3 | 0.0 | No detectable expression |
| HPDE | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.365G>A (p.Arg122His) | Missense | Rare | Reduced catalytic activity; associated with pancreatitis risk |
| c.544C>T (p.Arg182Trp) | Missense | Rare | Loss of function; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg122His, p.Arg182Trp) reduce elastase activity and are associated with pancreatitis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CELA1.
Dominant Negative (DN)
No evidence for dominant-negative effects in CELA1.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • proteolysis (GO:0006508) | • extracellular matrix (GO:0031012) |
| • neutrophil degranulation (GO:0043312) |
Pathways
• KEGG: hsa04610 – Complement and coagulation cascades
• Reactome: R-HSA-6798695 – Neutrophil degranulation
• Reactome: R-HSA-1474228 – Degradation of the extracellular matrix
Protein Summary
CELA1 encodes a 240-amino-acid preproprotein that is processed to a mature active enzyme. The protein contains a signal peptide, a propeptide, and a catalytic domain with the classic serine protease triad (His57, Asp102, Ser195). It preferentially cleaves peptide bonds after small hydrophobic residues (e.g., alanine, valine). The enzyme is inhibited by alpha-1-antitrypsin and other serpins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELA1 Knockout HEK293 Cell Line | EDJ-KQ4521 | Human | 1990 | Details Get a Quote |
| CELA1 Knockout HeLa Cell Line | EDJ-KQ53150 | Human | 1990 | Details Get a Quote |
| CELA1 Knockout A-549 Cell Line | EDJ-KQ61624 | Human | 1990 | Details Get a Quote |
| CELA1 Knockout HCT 116 Cell Line | EDJ-KQ70109 | Human | 1990 | Details Get a Quote |
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