THOP1 Gene (Thimet Oligopeptidase 1)
A metallopeptidase involved in peptide processing, antigen presentation, and neuropeptide metabolism.
Gene Information Card
| Symbol | THOP1 |
|---|---|
| Full Name | Thimet Oligopeptidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 7064 ncbi.nlm.nih.gov/gene/7064 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | P52888 |
| OMIM ID | 601117 |
| HGNC ID | 11794 |
| Aliases | EP24.15, MEPD, THOP, MEP, MEP1, MEPD_HUMAN |
Description
THOP1 encodes thimet oligopeptidase 1, a zinc-dependent metallopeptidase belonging to the M3 family. The enzyme cleaves peptides of 5–17 amino acids, including neuropeptides, bioactive peptides, and antigenic peptides. It plays a role in intracellular peptide processing, antigen presentation via MHC class I, and regulation of peptide hormone activity. THOP1 is widely expressed and has been implicated in cancer, neurological disorders, and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered THOP1 expression may affect antigen presentation and tumor immune evasion; mutations or dysregulation reported in several cancers. | COSMIC; literature PMID: 25691885 |
| Neurological disorders (e.g., Alzheimer's disease) | THOP1 degrades amyloid-beta peptides and other neuropeptides; altered activity may contribute to neurodegeneration. | UniProt; literature PMID: 12660151 |
| Hypertension | THOP1 processes vasoactive peptides such as bradykinin and angiotensin; potential role in blood pressure regulation. | UniProt; literature PMID: 10493827 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.9 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells; high expression |
| HeLa | 7.3 | Cervical cancer cells; moderate expression |
| K-562 | 6.5 | Leukemia cells; moderate expression |
| HepG2 | 5.9 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | <0.01% | Likely loss of function; reported in COSMIC |
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown significance; ClinVar |
| c.1012G>A (p.Gly338Ser) | Missense | <0.01% | Unknown significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1?) or truncating variants likely abolish enzyme activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • zinc ion binding |
| • proteolysis | • peptide metabolic process |
| • antigen processing and presentation of exogenous peptide antigen via MHC class I | • cytoplasm |
| • extracellular exosome |
Pathways
• Antigen processing and presentation (Reactome: R-HSA-983170)
• Peptide hormone metabolism (Reactome: R-HSA-422085)
Protein Summary
Thimet oligopeptidase 1 (THOP1) is a 687-amino-acid zinc metallopeptidase that hydrolyzes small peptides (5–17 residues). It is localized in the cytoplasm and also secreted into extracellular vesicles. The enzyme processes neuropeptides (e.g., bradykinin, angiotensin), regulates antigenic peptide generation for MHC class I presentation, and modulates peptide signaling. Its activity is inhibited by thiol reagents and metal chelators. THOP1 is implicated in cancer, neurodegeneration, and cardiovascular regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THOP1 Knockout HEK293 Cell Line | EDJ-KQ5930 | Human | 7064 | Details Get a Quote |
| THOP1 Knockout A-549 Cell Line | EDJ-KQ29472 | Human | 7064 | Details Get a Quote |
| THOP1 Knockout HCT 116 Cell Line | EDJ-KQ29473 | Human | 7064 | Details Get a Quote |
| THOP1 Knockout HeLa Cell Line | EDJ-KQ29474 | Human | 7064 | Details Get a Quote |
