CELA1 (chymotrypsin like elastase 1)

Gene

• Entrez ID: 1990
• Gene name: Chymotrypsin like elastase 1
• Gene symbol: CELA1
• Synonyms (NCBI Gene): ELA1
• Chromosome: 12
• Chromosome location: 12q13.13
• 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, pancreatic elastas

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT883619	hsa-miR-1269	CLIP-seq
MIRT883620	hsa-miR-1269b	CLIP-seq
MIRT883621	hsa-miR-1306	CLIP-seq
MIRT883622	hsa-miR-3664-3p	CLIP-seq
MIRT883623	hsa-miR-4529-3p	CLIP-seq
MIRT883624	hsa-miR-510	CLIP-seq
MIRT883625	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031017	Process	Exocrine pancreas development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060309	Process	Elastin catabolic process	IEA
GO:0061113	Process	Pancreas morphogenesis	IEA

Other IDs

• MIM: 130120
• HGNC: 3308
• e!Ensembl: ENSG00000139610

Protein

• UniProt ID: Q9UNI1
• Protein name: Chymotrypsin-like elastase family member 1 (EC 3.4.21.36) (Elastase-1) (Pancreatic elastase 1)
• Protein function: Serine proteases that hydrolyze many proteins in addition to elastin.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	19 → 251	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Basal layers of epidermis (at protein level). Not expressed in the pancreas. {ECO:0000269|PubMed:10620133}.
• Sequence:

  MLVLYGHSTQDLPETNARVVGGTEAGRNSWPSQISLQYRSGGSRYHTCGGTLIRQNWVMT
  AAHCVDYQKTFRVVAGDHNLSQNDGTEQYVSVQKIVVHPYWNSDNVAAGYDIALLRLAQS
  VTLNSYVQLGVLPQEGAILANNSPCYITGWGKTKTNGQLAQTLQQAYLPSVDYAICSSSS
  YWGSTVKNTMVCAGGDGVRSGCQGDSGGPLHCLVNGKYSVHGVTSFVSSRGCNVSRKPTV
  FTQVSAYISWINNVIASN

• Sequence length: 258

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
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	22863765, 24508087, 28774888		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	29420065		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22863765, 24508087		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	29886024	Associate	★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	29886024	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10686036, 16938751, 21503378		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	28286044, 29886024, 36280527	Associate	★☆☆☆☆ 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, 30106003, 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
Intestinal Obstruction	Intestinal obstruction	Pubtator	29886024	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30094008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29113292		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29113292		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30054822		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28573106, 29113292		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28286044	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29420065		★☆☆☆☆ Found in Text Mining only
Skin Diseases Genetic	Skin disease	Pubtator	10620133	Associate	★☆☆☆☆ Found in Text Mining only