PGPEP1
Pyroglutamyl-Peptidase I
Gene Information Card
| Symbol | PGPEP1 |
|---|---|
| Full Name | Pyroglutamyl-Peptidase I |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 54858 ncbi.nlm.nih.gov/gene/54858 |
| Ensembl ID | ENSG00000104960 |
| UniProt ID | Q9Y2R0 |
| OMIM ID | 606830 |
| HGNC ID | 8820 |
| Aliases | PGP, PAP-I, PGPEP |
Description
PGPEP1 encodes pyroglutamyl-peptidase I, a cysteine protease that removes N-terminal pyroglutamate residues from peptides and proteins. This enzyme is involved in protein maturation and degradation, and its dysregulation has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect protein turnover and signaling pathways. | COSMIC; literature |
| Neurodegenerative disorders | Potential role in processing of pyroglutamate-modified proteins (e.g., beta-amyloid). | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Heart | 6.3 | Low |
| Lung | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 8.7 | Medium expression |
| A549 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.544G>A (p.Gly182Ser) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • proteolysis |
| • pyroglutamyl-peptidase activity | • cytoplasm |
Pathways
• Protein digestion and absorption
• Lysosome
Protein Summary
Pyroglutamyl-peptidase I is a 209-amino acid cysteine protease that specifically removes N-terminal pyroglutamate residues. It is expressed in multiple tissues and localizes to the cytoplasm. The enzyme is involved in protein processing and may play a role in cancer and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGPEP1L Knockout HEK293 Cell Line | EDJ-KQ10456 | Human | 145814 | Details Get a Quote |
| PGPEP1 Knockout HEK293 Cell Line | EDJ-KQ11955 | Human | 54858 | Details Get a Quote |
| PGPEP1 Knockout A-549 Cell Line | EDJ-KQ40485 | Human | 54858 | Details Get a Quote |
| PGPEP1 Knockout HCT 116 Cell Line | EDJ-KQ40486 | Human | 54858 | Details Get a Quote |
| PGPEP1 Knockout HeLa Cell Line | EDJ-KQ40487 | Human | 54858 | Details Get a Quote |
| PGPEP1L Knockout HeLa Cell Line | EDJ-KQ58528 | Human | 145814 | Details Get a Quote |
| PGPEP1L Knockout A-549 Cell Line | EDJ-KQ67019 | Human | 145814 | Details Get a Quote |
| PGPEP1L Knockout HCT 116 Cell Line | EDJ-KQ75419 | Human | 145814 | Details Get a Quote |
