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.

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 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
Displaying Records 1 To 4 Of 4 Records
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