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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CPA1
carboxypeptidase A1
Chromosome 7 Β· 7q32.2
NCBI Gene: 1357Ensembl: ENSG00000091704.10HGNC: HGNC:2296UniProt: P15085
31PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
metallocarboxypeptidase activityprotein bindingGO:0005615leukotriene metabolic processtype 2 diabetes mellitusneurodegenerative diseasehereditary chronic pancreatitisIncreased blood pressure
✦AI Summary

CPA1 (carboxypeptidase A1) is a metallocarboxypeptidase that catalyzes the release of C-terminal amino acids from protein substrates, with specificity constraints excluding acidic, basic, and proline residues 12. The enzyme also converts leukotriene C4 to leukotriene F4 through amide bond hydrolysis, participating in inflammatory lipid mediator metabolism. Loss-of-function CPA1 mutations are associated with chr7 pancreatitis development through a misfolding-induced endoplasmic reticulum (ER) stress mechanism 34. Mouse models expressing the p.N256K mutation demonstrated progressive acinar atrophy, fibrosis, and elevated ER stress markers (BiP and CHOP), confirming the pathogenic pathway 3. CPA1 variants are clinically significant as disease susceptibility factors: approximately 6.7% of early-onset chr7 pancreatitis patients in European populations harbor pathogenic CPA1 variants 5, and certain ER stress-inducing CPA1 variants associate with increased pancreatic cancer risk (OR: 3.65) 6. Recent evidence links CPA1 mutations to disrupted intra-pancreatic lipid homeostasis, revealing an additional pathogenic mechanism 4. Genetic testing for CPA1 variants is recommended for hereditary pancreatitis evaluation and risk stratification 7.

Sources cited
1
CPA1 catalyzes C-terminal amino acid release with specificity constraints
PMID: 20385563
2
CPA1 has little or no action with acidic, basic, and proline residues
PMID: 8806703
3
CPA1 mutations cause chronic pancreatitis through misfolding-induced ER stress mechanism
PMID: 30045879
4
CPA1 S282P mutation disrupts intra-pancreatic lipid homeostasis and induces ER stress
PMID: 40383969
5
6.7% of early-onset chronic pancreatitis patients carry pathogenic CPA1 variants
PMID: 37389024
6
ER stress-inducing CPA1 variants associate with 3.65-fold increased pancreatic cancer risk
PMID: 34817877
7
CPA1 variants are associated with hereditary pancreatitis and genetic testing is recommended
PMID: 34798985
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
hereditary chronic pancreatitisOpen Targets
0.40Moderate
Increased blood pressureOpen Targets
0.38Weak
chronic pancreatitisOpen Targets
0.20Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
infectionOpen Targets
0.06Suggestive
Hyperlipoproteinemia type 1Open Targets
0.06Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.06Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.06Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.06Suggestive
Partial pancreatic agenesisOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
Pathogenic Variants3
NM_001868.4(CPA1):c.768C>G (p.Asn256Lys)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 256
NM_001868.4(CPA1):c.844T>C (p.Ser282Pro)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 282
NM_001868.4(CPA1):c.1085G>A (p.Gly362Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 362
View on ClinVar β†—
Related Genes
CELA3AProtein interaction99%CTRB1Protein interaction97%CELA3BProtein interaction97%CELProtein interaction96%CTRB2Protein interaction94%CPA2Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Ovary
58%
Lung
14%
Heart
2%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CPA1CELA3ACTRB1CELA3BCELCTRB2CPA2
PROTEIN STRUCTURE
Preparing viewer…
PDB2V77 Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.69–1.14]
RankingsWhere CPA1 stands among ~20K protein-coding genes
  • #11,690of 20,598
    Most Researched31
  • #4,111of 5,498
    Most Pathogenic Variants3
  • #11,831of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedCPA1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
PMID: 35171259
JAMA Netw Open Β· 2022
1.00
2
Comparing virtual reality and balance training effects on postural strategies during ball kicking in soccer players with chronic ankle instability.
PMID: 39733187
Sci Rep Β· 2024
0.90
3
PMID: 24624459
0.80
4
Human
PMID: 30045879
Gut Β· 2019
0.70
5
Spectrum of
PMID: 37389024
Sovrem Tekhnologii Med Β· 2023
0.60