CTSV Gene - Cathepsin V
A cysteine protease involved in antigen processing and immune regulation
Gene Information Card
| Symbol | CTSV |
|---|---|
| Full Name | Cathepsin V |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 1515 ncbi.nlm.nih.gov/gene/1515 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | O60911 |
| OMIM ID | 603308 |
| HGNC ID | 2539 |
| Aliases | CTSL2, CATL2, MEP |
Description
CTSV encodes cathepsin V, a lysosomal cysteine protease of the papain family. It is primarily expressed in the thymus, testis, and corneal epithelium, where it plays a key role in antigen processing for MHC class II presentation, particularly in thymic epithelial cells. Cathepsin V also participates in extracellular matrix remodeling and has been implicated in cancer progression and autoimmune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Corneal dystrophy (Thiel-Behnke type) | Missense mutations in CTSV disrupt cathepsin V activity, leading to abnormal corneal epithelial homeostasis and subepithelial deposits. | ClinVar, OMIM |
| Breast cancer | Overexpression of cathepsin V promotes tumor invasion and metastasis via degradation of extracellular matrix components. | COSMIC, PubMed |
| Rheumatoid arthritis | Elevated cathepsin V levels in synovial fluid contribute to joint destruction through collagen degradation. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 48.2 | High |
| Testis | 32.1 | High |
| Corneal epithelium | 25.6 | Medium |
| Lung | 8.4 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Moderate expression |
| HeLa | 8.3 | Low expression |
| MCF7 | 22.1 | High expression (breast cancer line) |
| Jurkat | 6.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.328G>A (p.Gly110Arg) | Missense | <0.01% | Reduced proteolytic activity; associated with corneal dystrophy |
| c.497T>C (p.Leu166Pro) | Missense | <0.01% | Altered protein folding; linked to Thiel-Behnke dystrophy |
| c.1-?_*_? (whole gene deletion) | Deletion | Rare | Loss of function; potential immune deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly110Arg) reduce cathepsin V activity, impairing antigen processing and leading to corneal dystrophy.
Gain of Function (GOF)
Overexpression in breast cancer enhances extracellular matrix degradation, promoting metastasis.
Dominant Negative (DN)
Not reported for CTSV.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['Antigen processing and presentation (KEGG hsa04612)']
• ['Lysosome (KEGG hsa04142)']
Protein Summary
Cathepsin V is a 334-amino acid lysosomal cysteine protease with a signal peptide (residues 1-17), a propeptide (18-113), and a mature catalytic domain (114-334). It contains the conserved catalytic triad Cys139, His278, Asn298. The enzyme is synthesized as a zymogen and activated by proteolytic removal of the propeptide. It functions optimally at acidic pH and is inhibited by cystatins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSV Knockout HEK293 Cell Line | EDJ-KQ4384 | Human | 1515 | Details Get a Quote |
| CTSV Knockout A-549 Cell Line | EDJ-KQ26905 | Human | 1515 | Details Get a Quote |
| CTSV Knockout HCT 116 Cell Line | EDJ-KQ26906 | Human | 1515 | Details Get a Quote |
| CTSV Knockout HeLa Cell Line | EDJ-KQ26907 | Human | 1515 | Details Get a Quote |
