NPEPL1: Aminopeptidase-Like 1 Gene
A comprehensive biomedical overview of NPEPL1, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | NPEPL1 |
|---|---|
| Full Name | Aminopeptidase-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 79716 ncbi.nlm.nih.gov/gene/79716 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q8TCG5 |
| OMIM ID | 611248 |
| HGNC ID | 25999 |
| Aliases | bA261P9.1, FLJ22604, MGC131911 |
Description
NPEPL1 (aminopeptidase-like 1) is a protein-coding gene located on chromosome 20q13.33. It encodes a putative metalloaminopeptidase belonging to the M1 family, though its specific catalytic activity and biological function remain incompletely characterized. The gene is expressed in multiple tissues, with highest levels in testis and kidney. NPEPL1 has been implicated in cellular processes such as protein processing and metabolism, but its role in disease is not well established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Liver | 5.1 | Low |
| Brain | 3.0 | Not detected |
| Heart | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | 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)
| • metalloaminopeptidase activity (GO:0070006) | • proteolysis (GO:0006508) |
| • cytoplasm (GO:0005737) |
Pathways
• No specific pathways curated
Protein Summary
NPEPL1 encodes a 680-amino acid protein predicted to function as a zinc-dependent aminopeptidase. The protein contains a conserved HEXXH motif characteristic of M1 family metallopeptidases. Its exact substrate specificity and physiological role remain under investigation, though it may participate in N-terminal trimming of peptides.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPEPL1 Knockout HEK293 Cell Line | EDJ-KQ14459 | Human | 79716 | Details Get a Quote |
| NPEPL1 Knockout A-549 Cell Line | EDJ-KQ44694 | Human | 79716 | Details Get a Quote |
| NPEPL1 Knockout HeLa Cell Line | EDJ-KQ44695 | Human | 79716 | Details Get a Quote |
| NPEPL1 Knockout HCT 116 Cell Line | EDJ-KQ43438 | Human | 79716 | Details Get a Quote |
