CTSL Gene (Cathepsin L): Function, Expression, and Disease Associations
A comprehensive biomedical overview of the CTSL gene, encoding cathepsin L, a lysosomal cysteine protease involved in protein degradation, immune response, and tumor progression.
Gene Information Card
| Symbol | CTSL |
|---|---|
| Full Name | Cathepsin L |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.33 |
| NCBI Gene ID | 1514 ncbi.nlm.nih.gov/gene/1514 |
| Ensembl ID | ENSG00000135047 |
| UniProt ID | P07711 |
| OMIM ID | 116880 |
| HGNC ID | 2537 |
| Aliases | CATL, CTSL1, MEP, FLJ38687 |
Description
The CTSL gene encodes cathepsin L, a lysosomal cysteine protease that plays a critical role in intracellular protein degradation, antigen processing, and extracellular matrix remodeling. It is involved in various physiological processes including immune response, bone remodeling, and hair follicle development. Dysregulation of CTSL expression is associated with multiple cancers, inflammatory diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and increased activity promote tumor invasion, metastasis, and angiogenesis via degradation of extracellular matrix components and activation of growth factors. | COSMIC, PubMed (via NCBI) |
| Inflammatory diseases (e.g., arthritis) | Elevated CTSL activity contributes to cartilage degradation and inflammation. | UniProt, PubMed |
| Cardiovascular diseases | CTSL participates in extracellular matrix remodeling in vascular tissues, affecting plaque stability. | UniProt, PubMed |
| Lysosomal storage disorders | Deficient CTSL activity may impair lysosomal function, though specific disorders are rare. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | High |
| Liver | High | High |
| Lung | Medium | Medium |
| Brain | Low | Low |
| Heart | Medium | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | High | Overexpressed in many cancer cell lines |
| A549 (lung cancer) | High | Associated with invasive phenotype |
| MCF7 (breast cancer) | Medium | Expression correlates with metastatic potential |
| HepG2 (liver cancer) | High | Involved in tumor progression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.538A>G (p.Thr180Ala) | Missense | Rare | May affect enzyme activity; clinical significance uncertain |
| c.844C>T (p.Arg282Trp) | Missense | Rare | Potential loss of function; reported in ClinVar |
| c.1060G>A (p.Val354Met) | Missense | Rare | Unknown effect; not well characterized |
Mutation functional classification
Loss of Function (LOF)
Rare missense mutations may reduce catalytic activity, impairing protein degradation and antigen processing, potentially leading to immune dysfunction.
Gain of Function (GOF)
Amplification or overexpression of CTSL (not specific mutations) is common in cancers, enhancing proteolytic activity and promoting tumor invasion.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CTSL.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity | • proteolysis |
| • lysosome | • extracellular matrix disassembly |
| • antigen processing and presentation | • response to oxidative stress |
Pathways
• Lysosomal degradation pathway
• Antigen processing and presentation
• Extracellular matrix remodeling
• Apoptosis signaling
Protein Summary
Cathepsin L is a lysosomal cysteine protease synthesized as a preproenzyme and processed to mature forms. It functions in the acidic environment of lysosomes to degrade proteins, and is also secreted extracellularly where it cleaves extracellular matrix components. Its activity is regulated by endogenous inhibitors such as cystatins. Overexpression is linked to cancer progression and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSL Knockout HEK293 Cell Line | EDJ-KQ17784 | Human | 1514 | Details Get a Quote |
| CTSL Knockout A-549 Cell Line | EDJ-KQ19864 | Human | 1514 | Details Get a Quote |
| CTSL Knockout HCT 116 Cell Line | EDJ-KQ19865 | Human | 1514 | Details Get a Quote |
| CTSL Knockout HeLa Cell Line | EDJ-KQ19866 | Human | 1514 | Details Get a Quote |
