CPA1 (carboxypeptidase A1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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 miRNA information provided by mirtarbase database.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114850 2296 ENSG00000091704
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 419
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Pancreatic secretion
Protein digestion and absorption 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
731
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CPA1-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs782346209, rs144546424, rs115663631, rs116214014, rs61735158, rs34843162, rs369058363, rs145988366, rs150653308, rs782790983 RCV003980405
RCV003902818
RCV004758103
RCV003962927
RCV003923298
RCV003913105
RCV003925804
RCV003918646
RCV003928665
RCV004758136
Early-onset chronic pancreatitis Uncertain significance rs782689631 RCV003225166
Familial cancer of breast Likely benign rs369058363 RCV005903182
Gastric cancer Likely benign rs369058363 RCV005903183
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Associate 16040603
Bone Diseases Associate 16040603
Carcinoma Embryonal Associate 29898407
Carcinoma Pancreatic Ductal Associate 35171259
Genetic Diseases Inborn Associate 26376395
Hereditary pancreatitis Associate 36555104, 37603299
Huntington Disease Associate 12191472, 23236391
Osteomyelitis Associate 16040603
Pancreatic Neoplasms Associate 27449771, 29669919, 30883245, 31706267, 32272917, 34648951, 36599457
Pancreatitis Associate 23955596, 26376395, 39172977, 39457082