CPQ Gene - Carboxypeptidase Q
A comprehensive resource on CPQ gene, its function, expression, and associated diseases.
Gene Information Card
| Symbol | CPQ |
|---|---|
| Full Name | Carboxypeptidase Q |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 10404 ncbi.nlm.nih.gov/gene/10404 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9Y646 |
| OMIM ID | 613689 |
| HGNC ID | 2332 |
| Aliases | Lysosomal carboxypeptidase Q, LCPQ, MGC138207 |
Description
The CPQ gene encodes carboxypeptidase Q, a lysosomal serine carboxypeptidase that cleaves C-terminal amino acids from peptides and proteins. It is involved in protein degradation within lysosomes and may play a role in antigen processing and presentation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not specified | No direct disease association reported in major databases. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HepG2 | 14.2 | Medium expression |
| A549 | 11.0 | Medium expression |
| K562 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown functional impact |
| c.567C>T (p.Pro189Leu) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type carboxypeptidase activity (GO:0004185) | • lysosome (GO:0005764) |
| • proteolysis (GO:0006508) | • hydrolase activity (GO:0016787) |
Pathways
• Lysosome (KEGG: hsa04142)
Protein Summary
Carboxypeptidase Q is a lysosomal serine protease that removes C-terminal amino acids from proteins. It is synthesized as a zymogen and activated by proteolytic cleavage. The protein is widely expressed, with highest levels in kidney and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPQ Knockout HEK293 Cell Line | EDJ-KQ6401 | Human | 10404 | Details Get a Quote |
| CPQ Knockout A-549 Cell Line | EDJ-KQ31800 | Human | 10404 | Details Get a Quote |
| CPQ Knockout HCT 116 Cell Line | EDJ-KQ31802 | Human | 10404 | Details Get a Quote |
| CPQ Knockout HeLa Cell Line | EDJ-KQ31803 | Human | 10404 | Details Get a Quote |
