CELA3A
Chymotrypsin Like Elastase 3A
Gene Information Card
| Symbol | CELA3A |
|---|---|
| Full Name | Chymotrypsin Like Elastase 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | P09093 |
| OMIM ID | 191170 |
| HGNC ID | 3301 |
| Aliases | ELA3, elastase 3A, pancreatic elastase IIIA |
Description
CELA3A encodes a serine protease of the chymotrypsin family, specifically a pancreatic elastase. The enzyme is synthesized in the acinar cells of the pancreas and secreted as a zymogen. It is activated by trypsin cleavage and functions in the digestion of dietary proteins, with a preference for alanine residues. CELA3A is a major component of pancreatic juice and is used clinically as a biomarker for pancreatic function and exocrine pancreatic insufficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatitis (hereditary) | Loss-of-function mutations reduce digestive enzyme activity, leading to autodigestion and inflammation | ClinVar, OMIM |
| Pancreatic cancer | Altered expression and somatic mutations may contribute to tumor progression | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 108.6 | High |
| Salivary gland | 0.3 | Low |
| Stomach | 0.1 | Low |
| Duodenum | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 0.0 | No expression detected |
| MIA PaCa-2 | 0.0 | No expression detected |
| BxPC-3 | 0.0 | No expression detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.365C>T (p.Thr122Ile) | missense | Rare | Reduced enzymatic activity; associated with hereditary pancreatitis |
| c.560G>A (p.Arg187Gln) | missense | Rare | Unknown functional effect; reported in pancreatic cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Thr122Ile reduce catalytic activity, impairing protein digestion and predisposing to pancreatitis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CELA3A.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CELA3A.
View complete mutation data:
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • digestion | • extracellular space |
| • zymogen activation |
Pathways
• Digestion of dietary protein
• Pancreatic secretion
Protein Summary
CELA3A (chymotrypsin-like elastase 3A) is a 269-amino-acid serine protease synthesized as a preproenzyme in pancreatic acinar cells. After signal peptide cleavage and activation by trypsin, the mature enzyme hydrolyzes peptide bonds at the carboxyl side of alanine residues. It is a key component of the pancreatic digestive arsenal and is used as a biomarker for exocrine pancreatic function. The protein structure includes a catalytic triad (His57, Asp102, Ser195) typical of chymotrypsin-family proteases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELA3A Knockout HEK293 Cell Line | EDJ-KQ6910 | Human | 10136 | Details Get a Quote |
| CELA3A Knockout HeLa Cell Line | EDJ-KQ55325 | Human | 10136 | Details Get a Quote |
| CELA3A Knockout A-549 Cell Line | EDJ-KQ63808 | Human | 10136 | Details Get a Quote |
| CELA3A Knockout HCT 116 Cell Line | EDJ-KQ72267 | Human | 10136 | Details Get a Quote |
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