CTSZ: Cathepsin Z
A lysosomal cysteine protease with roles in antigen processing and cancer progression
Gene Information Card
| Symbol | CTSZ |
|---|---|
| Full Name | Cathepsin Z |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.32 |
| NCBI Gene ID | 1522 ncbi.nlm.nih.gov/gene/1522 |
| Ensembl ID | ENSG00000101189 |
| UniProt ID | Q9UBR2 |
| OMIM ID | 603169 |
| HGNC ID | 2530 |
| Aliases | CTSZ1, CTSZ2, cathepsin X, cathepsin P |
Description
The CTSZ gene encodes cathepsin Z, a lysosomal cysteine protease belonging to the peptidase C1 family. It functions primarily in protein degradation within lysosomes and plays a role in antigen processing, immune response, and extracellular matrix remodeling. Cathepsin Z is unique among cathepsins due to its carboxypeptidase activity. Dysregulation of CTSZ expression is implicated in various cancers, inflammatory diseases, and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression promotes tumor invasion and metastasis via extracellular matrix degradation | COSMIC, literature |
| Inflammatory diseases | Altered expression in macrophages contributes to chronic inflammation | NCBI Gene, literature |
| Neurodegenerative disorders | Potential role in amyloid precursor protein processing | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Kidney | 7.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 9.8 | Medium expression |
| K562 (leukemia) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.200C>T | missense | <0.01% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function in cancer progression.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity | • lysosome |
| • proteolysis | • antigen processing and presentation |
| • extracellular exosome |
Pathways
• Lysosome (KEGG: hsa04142)
• Antigen processing and presentation (KEGG: hsa04612)
Protein Summary
Cathepsin Z is a 303-amino acid lysosomal cysteine protease with a unique carboxypeptidase activity. It is synthesized as a zymogen and activated by proteolytic cleavage. The protein is involved in intracellular protein degradation, antigen processing, and extracellular matrix remodeling. Its expression is upregulated in several cancers, where it contributes to tumor invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSZ Knockout HEK293 Cell Line | EDJ-KQ4388 | Human | 1522 | Details Get a Quote |
| CTSZ Knockout A-549 Cell Line | EDJ-KQ26909 | Human | 1522 | Details Get a Quote |
| CTSZ Knockout HCT 116 Cell Line | EDJ-KQ26910 | Human | 1522 | Details Get a Quote |
| CTSZ Knockout HeLa Cell Line | EDJ-KQ26911 | Human | 1522 | Details Get a Quote |
