PGPEP1L
Pyroglutamyl-Peptidase I-Like Gene
Gene Information Card
| Symbol | PGPEP1L |
|---|---|
| Full Name | Pyroglutamyl-Peptidase I-Like |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000205643 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617665 |
| HGNC ID | 44299 |
| Aliases | MGC16169, FLJ39653 |
Description
PGPEP1L (pyroglutamyl-peptidase I-like) is a protein-coding gene located on chromosome 15q26.1. It encodes a protein that is similar to pyroglutamyl-peptidase I, an enzyme that removes N-terminal pyroglutamate residues from peptides. The specific function of PGPEP1L is not fully characterized, but it is predicted to be involved in proteolysis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.8 | Low |
| Brain | 0.5 | Low |
| Liver | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.6 | Low expression |
| K562 | 0.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • peptidase activity (GO:0008233) | • proteolysis (GO:0006508) |
Protein Summary
The PGPEP1L protein (UniProt A6NKD9) is a predicted cysteine-type peptidase belonging to the peptidase C15 family. It contains a pyroglutamyl-peptidase I domain and is likely involved in the removal of N-terminal pyroglutamate from peptides, though its biological substrates and physiological role remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGPEP1L Knockout HEK293 Cell Line | EDJ-KQ10456 | Human | 145814 | 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 |
