CPZ Gene - Carboxypeptidase Z
A metallocarboxypeptidase involved in extracellular matrix remodeling and Wnt signaling modulation
Gene Information Card
| Symbol | CPZ |
|---|---|
| Full Name | Carboxypeptidase Z |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 8532 ncbi.nlm.nih.gov/gene/8532 |
| Ensembl ID | ENSG00000109625 |
| UniProt ID | Q66K79 |
| OMIM ID | 603105 |
| HGNC ID | 2330 |
| Aliases | CPZ, carboxypeptidase Z, metallocarboxypeptidase Z |
Description
CPZ encodes carboxypeptidase Z, a secreted zinc-dependent metallocarboxypeptidase that cleaves C-terminal basic or hydrophobic amino acids. It is involved in extracellular matrix remodeling, Wnt signaling modulation, and neurodevelopment. The protein contains a CUB domain and a carboxypeptidase domain, and is expressed in various tissues including brain, placenta, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | CPZ may modulate Wnt signaling through cleavage of Wnt ligands or receptors, affecting tumor progression | Low expression associated with poor prognosis in colorectal cancer (COSMIC) |
| Breast cancer | Altered CPZ expression linked to extracellular matrix remodeling and metastasis | Upregulated in invasive breast carcinoma (COSMIC) |
| Neurodevelopmental disorders | CPZ involved in neural crest cell migration and differentiation | Rare variants reported in patients with intellectual disability (ClinVar) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Placenta | 8.3 | Low |
| Testis | 6.7 | Low |
| Lung | 4.2 | Low |
| Colon | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| SH-SY5Y | 9.8 | Neuronal cell line |
| MCF7 | 5.4 | Breast cancer cell line |
| HCT116 | 4.1 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.01% | Reduced catalytic activity |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Unknown functional effect |
| c.1456_1457insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking carboxypeptidase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • metallocarboxypeptidase activity | • zinc ion binding |
| • proteolysis | • extracellular region |
| • Wnt signaling pathway | • nervous system development |
Pathways
• Wnt signaling pathway
• Extracellular matrix organization
Protein Summary
Carboxypeptidase Z is a 638-amino acid secreted protein with a signal peptide, a CUB domain, and a carboxypeptidase domain. It functions as a zinc-dependent exopeptidase that removes C-terminal residues from peptides and proteins. It is implicated in Wnt signaling modulation and extracellular matrix remodeling, with potential roles in cancer and neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPZ Knockout HEK293 Cell Line | EDJ-KQ6272 | Human | 8532 | Details Get a Quote |
| CPZ Knockout HeLa Cell Line | EDJ-KQ54933 | Human | 8532 | Details Get a Quote |
| CPZ Knockout A-549 Cell Line | EDJ-KQ63419 | Human | 8532 | Details Get a Quote |
| CPZ Knockout HCT 116 Cell Line | EDJ-KQ71883 | Human | 8532 | Details Get a Quote |
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