CPA1 (carboxypeptidase A1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1357
Gene name Gene Name - the full gene name approved by the HGNC.
Carboxypeptidase A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPA1
Synonyms (NCBI Gene) Gene synonyms aliases
CPA
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114850 2296 ENSG00000091704
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Hereditary Pancreatitis hereditary pancreatitis, hereditary chronic pancreatitis N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease 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