CELA3A (chymotrypsin like elastase 3A)

Gene

• Entrez ID: 10136
• Gene name: Chymotrypsin like elastase 3A
• Gene symbol: CELA3A
• Synonyms (NCBI Gene): ELA3, ELA3A
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has li

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	2460440
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA

Other IDs

• MIM: 618693
• HGNC: 15944
• e!Ensembl: ENSG00000142789

Protein

• UniProt ID: P09093
• Protein name: Chymotrypsin-like elastase family member 3A (EC 3.4.21.70) (Elastase IIIA) (Elastase-3A) (Protease E)
• Protein function: Efficient protease with alanine specificity but only little elastolytic activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	29 → 263	Trypsin	Domain

• Sequence:

  MMLRLLSSLLLVAVASGYGPPSSHSSSRVVHGEDAVPYSWPWQVSLQYEKSGSFYHTCGG
  SLIAPDWVVTAGHCISRDLTYQVVLGEYNLAVKEGPEQVIPINSEELFVHPLWNRSCVAC
  GNDIALIKLSRSAQLGDAVQLASLPPAGDILPNKTPCYITGWGRLYTNGPLPDKLQQARL
  PVVDYKHCSRWNWWGSTVKKTMVCAGGYIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVS
  AFGCNFIWKPTVFTRVSAFIDWIEETIASH

• Sequence length: 270

Pathways

KEGG:

Pancreatic secretion
Protein digestion and absorption

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16938751, 21503378		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26601880, 30094008		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26601880, 30094008		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29044779, 31094026		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30740639, 31446113		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	21503378, 29374614, 29474746		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31227742		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29529042		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30094008		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30054822		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	27999401		★☆☆☆☆ Found in Text Mining only