CPA1 (carboxypeptidase A1)

Gene

• Entrez ID: 1357
• Gene name: Carboxypeptidase A1
• Gene symbol: CPA1
• Synonyms (NCBI Gene): CPA
• Chromosome: 7
• Chromosome location: 7q32.2
• Summary: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144546424	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs782790983	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028882	hsa-miR-26b-5p	Microarray	19088304
MIRT905617	hsa-miR-3154	CLIP-seq
MIRT2204419	hsa-miR-4640-5p	CLIP-seq
MIRT2204420	hsa-miR-4726-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IDA	20385563
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	TAS	2920728
GO:0005515	Function	Protein binding	IPI	19179285
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	2920728
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	2920728
GO:0006691	Process	Leukotriene metabolic process	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008238	Function	Exopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA

Other IDs

• MIM: 114850
• HGNC: 2296
• e!Ensembl: ENSG00000091704

Protein

• UniProt ID: P15085
• Protein name: Carboxypeptidase A1 (EC 3.4.17.1)
• Protein function: Carboxypeptidase that catalyzes the release of a C-terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro (PubMed:20385563, PubMed:8806703). Catalyzes the conversion of leukotriene C4 to leukotriene F4 via the hydro
• PDB: 2V77, 3FJU, 4UEE, 4UEZ, 5OM9, 6I6Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02244	Propep_M14	26 → 100	Carboxypeptidase activation peptide	Domain
  PF00246	Peptidase_M14	128 → 406	Zinc carboxypeptidase	Domain

• Sequence:

  MRGLLVLSVLLGAVFGKEDFVGHQVLRISVADEAQVQKVKELEDLEHLQLDFWRGPAHPG
  SPIDVRVPFPSIQAVKIFLESHGISYETMIEDVQSLLDEEQEQMFAFRSRARSTDTFNYA
  TYHTLEEIYDFLDLLVAENPHLVSKIQIGNTYEGRPIYVLKFSTGGSKRPAIWIDTGIHS
  REWVTQASGVWFAKKITQDYGQDAAFTAILDTLDIFLEIVTNPDGFAFTHSTNRMWRKTR
  SHTAGSLCIGVDPNRNWDAGFGLSGASSNPCSETYHGKFANSEVEVKSIVDFVKDHGNIK
  AFISIHSYSQLLMYPYGYKTEPVPDQDELDQLSKAAVTALASLYGTKFNYGSIIKAIYQA
  SGSTIDWTYSQGIKYSFTFELRDTGRYGFLLPASQIIPTAKETWLALLTIMEHTLNHPY

• Sequence length: 419

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
AUTOSOMAL DOMINANT HEREDITARY CHRONIC PANCREATITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CPA1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset chronic pancreatitis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pancreatitis	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	11380493, 24242700		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	24242700		★☆☆☆☆ Found in Text Mining only
Aphakia, congenital primary	Congenital primary aphakia	BEFREE	27975140, 28340131		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	16040603	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Hereditary Pancreatitis	Pancreatitis	BEFREE	28650851		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16040603	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17215075		★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	29898407	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35171259	Associate	★☆☆☆☆ Found in Text Mining only
Circadian Rhythm Disorders	Circadian Rhythm Disorders	BEFREE	29615980		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	23660850		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	24242700		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	20186151		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	20186151		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30718926		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31608530		★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	31810804		★☆☆☆☆ Found in Text Mining only
Hereditary chronic pancreatitis	Hereditary Pancreatitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	ORPHANET_DG	23955596, 24522117		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pancreatitis	Hereditary Pancreatitis	GENOMICS_ENGLAND_DG	28650851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	30045879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pancreatitis	Pancreatitis	Pubtator	36555104, 37603299	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	12191472, 23236391	Associate	★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	31810804		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17215075, 18226209		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	28247112		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30987492		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28340131		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	17215075		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	16040603	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	30045879		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27449771, 29669919, 30883245, 31706267, 32272917, 34648951, 36599457	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	23955596, 24522117		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	23955596, 26376395, 39172977, 39457082	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	23955596, 26316592, 28497564, 36555104, 37389024	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	23955596, 26316592, 28650851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	CTD_human_DG	23955596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	GENOMICS_ENGLAND_DG	28650851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	21415709, 27769766, 31126554		★☆☆☆☆ Found in Text Mining only
Recurrent pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	28974446	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30171597		★☆☆☆☆ Found in Text Mining only
Splanchnic vein thrombosis	Splanchnic vein thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	31810804		★☆☆☆☆ Found in Text Mining only
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	25516642		★☆☆☆☆ Found in Text Mining only