CPVL Gene - Carboxypeptidase, Vitellogenic Like
Comprehensive genomic and proteomic analysis of CPVL, a serine carboxypeptidase with roles in protein processing and potential implications in disease.
Gene Information Card
| Symbol | CPVL |
|---|---|
| Full Name | Carboxypeptidase, Vitellogenic Like |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.1 |
| NCBI Gene ID | 54504 ncbi.nlm.nih.gov/gene/54504 |
| Ensembl ID | ENSG00000106066 |
| UniProt ID | Q9H3G5 |
| OMIM ID | 617594 |
| HGNC ID | 25107 |
| Aliases | HVLP, MGC129606, MGC129607 |
Description
CPVL encodes a serine carboxypeptidase that is similar to vitellogenic carboxypeptidase in insects. The enzyme is involved in the processing of proteins and peptides, potentially playing a role in the degradation of extracellular matrix components and in immune responses. CPVL is expressed in various tissues, with highest levels in the spleen, lymph nodes, and bone marrow, suggesting a function in hematopoietic and immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | CPVL expression is altered in microglia; may contribute to amyloid-beta clearance or neuroinflammation | NCBI Gene, PubMed |
| Macular degeneration | Genetic variants in CPVL have been associated with age-related macular degeneration in some studies | OMIM, PubMed |
| Cancer (various) | CPVL expression changes have been observed in certain cancers, but mechanistic details are limited | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 34.2 | High |
| Lymph node | 28.5 | High |
| Bone marrow | 22.1 | High |
| Lung | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Liver | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.4 | High expression in monocytic cell line |
| U937 (histiocytic lymphoma) | 12.1 | Moderate expression |
| HEK293 (embryonic kidney) | 3.2 | Low expression |
| HeLa (cervical carcinoma) | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Unknown functional effect |
| c.1573C>T (p.Arg525Trp) | Missense | <0.01% | Unknown functional effect |
| c.1822_1823insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1822_1823insA) are predicted to cause premature truncation and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CPVL.
Dominant Negative (DN)
No dominant-negative mutations have been described for CPVL.
View complete mutation data：
Gene Ontology (GO)
| • serine-type carboxypeptidase activity (GO:0004185) | • proteolysis (GO:0006508) |
| • extracellular region (GO:0005576) | • lysosome (GO:0005764) |
| • integral component of membrane (GO:0016021) |
Pathways
• Lysosome (KEGG: hsa04142)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
CPVL is a 476-amino acid serine carboxypeptidase that localizes to lysosomes and the extracellular space. It contains a signal peptide and a conserved peptidase S10 domain. The enzyme is synthesized as a zymogen and activated by proteolytic cleavage. CPVL is thought to participate in the degradation of peptides and proteins, potentially influencing antigen processing and extracellular matrix remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPVL Knockout HEK293 Cell Line | EDJ-KQ11443 | Human | 54504 | Details Get a Quote |
| CPVL Knockout HCT 116 Cell Line | EDJ-KQ39719 | Human | 54504 | Details Get a Quote |
| CPVL Knockout HeLa Cell Line | EDJ-KQ39720 | Human | 54504 | Details Get a Quote |
| CPVL Knockout A-549 Cell Line | EDJ-KQ64921 | Human | 54504 | Details Get a Quote |
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