CTSE (Cathepsin E)
Aspartic Proteinase Involved in Antigen Processing and Tumor Biology
Gene Information Card
| Symbol | CTSE |
|---|---|
| Full Name | Cathepsin E |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 1510 ncbi.nlm.nih.gov/gene/1510 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | P14091 |
| OMIM ID | 116890 |
| HGNC ID | 2520 |
| Aliases | CTSE1, CATH E |
Description
CTSE encodes cathepsin E, an intracellular aspartic proteinase primarily localized in endosomal and lysosomal compartments. It plays a key role in antigen processing and presentation via MHC class II molecules, and is implicated in gastric carcinogenesis, neurodegenerative disorders, and immune regulation. Expression is largely restricted to stomach, kidney, and immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | CTSE overexpression is associated with gastric adenocarcinoma; may promote tumor invasion and metastasis | PMID: 10659821; NCBI GeneRIF |
| Alzheimer Disease | Cathepsin E may contribute to amyloid-beta peptide generation and neurodegeneration | PMID: 10899934; OMIM |
| Autoimmune Diseases | Dysregulated cathepsin E activity affects antigen presentation, linked to rheumatoid arthritis and lupus models | PMID: 14525967; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 42.5 | High |
| Kidney | 18.3 | Medium |
| Lung | 6.2 | Low |
| Spleen | 4.8 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric cancer) | 35.2 | High expression |
| HEK293 (embryonic kidney) | 12.7 | Moderate expression |
| THP-1 (monocyte) | 8.5 | Low expression |
| HepG2 (liver) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.146C>T (p.Pro49Leu) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.523G>A (p.Gly175Arg) | Missense | <0.01% | Potential loss of catalytic activity; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain (e.g., p.Gly175Arg) may impair protease activity.
Gain of Function (GOF)
Not well documented; overexpression in gastric cancer suggests possible gain-of-function in tumorigenesis.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Lysosome (KEGG hsa04142)
Protein Summary
Cathepsin E is a homodimeric aspartic proteinase with optimal activity at acidic pH. It is synthesized as a zymogen and activated by proteolytic cleavage. The enzyme is involved in intracellular protein degradation, antigen processing, and regulation of immune responses. Its expression is highly restricted, with predominant levels in gastric mucosa and renal tubules. Aberrant expression is linked to gastric cancer and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSE Knockout HEK293 Cell Line | EDJ-KQ13051 | Human | 1510 | Details Get a Quote |
| CTSE Knockout HeLa Cell Line | EDJ-KQ53029 | Human | 1510 | Details Get a Quote |
| CTSE Knockout A-549 Cell Line | EDJ-KQ61493 | Human | 1510 | Details Get a Quote |
| CTSE Knockout HCT 116 Cell Line | EDJ-KQ69988 | Human | 1510 | Details Get a Quote |
