CPE Gene - Carboxypeptidase E
A key enzyme in neuropeptide and hormone processing, linked to obesity, diabetes, and neurological disorders.
Gene Information Card
| Symbol | CPE |
|---|---|
| Full Name | Carboxypeptidase E |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 1363 ncbi.nlm.nih.gov/gene/1363 |
| Ensembl ID | ENSG00000109472 |
| UniProt ID | P16870 |
| OMIM ID | 114855 |
| HGNC ID | 2303 |
| Aliases | CPE-1, CPN, carboxypeptidase H |
Description
The CPE gene encodes carboxypeptidase E, a prohormone processing enzyme that removes C-terminal basic amino acids from peptide precursors. It is essential for the biosynthesis of many neuropeptides and peptide hormones, including insulin, proopiomelanocortin, and neurotensin. Mutations in CPE are associated with obesity, type 2 diabetes, and impaired neuropeptide signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Loss-of-function mutations reduce prohormone processing, leading to hyperphagia and metabolic dysregulation. | PMID: 9054945 |
| Type 2 Diabetes | Defective insulin processing due to CPE deficiency impairs glucose homeostasis. | PMID: 9054945 |
| Alzheimer's Disease | Reduced CPE expression may contribute to amyloid-beta accumulation and neurodegeneration. | PMID: 21802006 |
| Epilepsy | Altered neuropeptide processing affects neuronal excitability and seizure susceptibility. | PMID: 15608630 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Pancreas | 8.7 | Medium |
| Adrenal Gland | 6.5 | Medium |
| Pituitary | 15.1 | High |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.5 | Neuroblastoma cell line |
| HeLa | 3.2 | Cervical carcinoma |
| HepG2 | 1.8 | Hepatocellular carcinoma |
| INS-1 | 14.0 | Rat insulinoma, high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.758C>T (p.Pro253Leu) | Missense | Rare | Reduced enzyme activity, associated with obesity |
| c.1129G>A (p.Gly377Arg) | Missense | Rare | Impaired proinsulin processing |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most CPE mutations reduce or abolish enzymatic activity, impairing prohormone processing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous missense mutations may exert dominant-negative effects by disrupting dimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Prohormone processing (Reactome: R-HSA-209776)
• Peptide hormone metabolism (Reactome: R-HSA-422085)
• Alzheimer's disease (KEGG: hsa05010)
Protein Summary
Carboxypeptidase E (CPE) is a 476-amino acid zinc-dependent metalloprotease localized to secretory vesicles. It cleaves C-terminal basic residues (Arg, Lys) from prohormones and proneuropeptides, generating bioactive peptides. CPE is highly expressed in neuroendocrine tissues, including brain, pituitary, and pancreatic islets. The protein contains a signal peptide, a prodomain, and a catalytic domain. Mutations cause obesity and diabetes in mice (fat/fat) and are linked to human metabolic and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPEB3 Knockout HEK293 Cell Line | EDJ-KQ3020 | Human | 22849 | Details Get a Quote |
| CPE Knockout HEK293 Cell Line | EDJ-KQ4329 | Human | 1363 | Details Get a Quote |
| CPEB2 Knockout HEK293 Cell Line | EDJ-KQ9305 | Human | 132864 | Details Get a Quote |
| CPEB4 Knockout HEK293 Cell Line | EDJ-KQ9519 | Human | 80315 | Details Get a Quote |
| CPEB1 Knockout HEK293 Cell Line | EDJ-KQ12987 | Human | 64506 | Details Get a Quote |
| CPED1 Knockout HEK293 Cell Line | EDJ-KQ12988 | Human | 79974 | Details Get a Quote |
| SCPEP1 Knockout HEK293 Cell Line | EDJ-KQ15192 | Human | 59342 | Details Get a Quote |
| CPEB2 Knockout A-549 Cell Line | EDJ-KQ35919 | Human | 132864 | Details Get a Quote |
| CPEB2 Knockout HCT 116 Cell Line | EDJ-KQ35920 | Human | 132864 | Details Get a Quote |
| CPEB2 Knockout HeLa Cell Line | EDJ-KQ35921 | Human | 132864 | Details Get a Quote |
| SCPEP1 Knockout A-549 Cell Line | EDJ-KQ47989 | Human | 59342 | Details Get a Quote |
| SCPEP1 Knockout HCT 116 Cell Line | EDJ-KQ47991 | Human | 59342 | Details Get a Quote |
| SCPEP1 Knockout HeLa Cell Line | EDJ-KQ47992 | Human | 59342 | Details Get a Quote |
| CPEB3 Knockout HCT 116 Cell Line | EDJ-KQ24236 | Human | 22849 | Details Get a Quote |
| CPEB3 Knockout HeLa Cell Line | EDJ-KQ24237 | Human | 22849 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
