RNPEPL1 Gene - Arginyl Aminopeptidase Like 1
Comprehensive genomic and proteomic analysis of RNPEPL1, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | RNPEPL1 |
|---|---|
| Full Name | Arginyl Aminopeptidase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 9910 ncbi.nlm.nih.gov/gene/9910 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9H4A4 |
| OMIM ID | 618231 |
| HGNC ID | 29085 |
| Aliases | RNPEPL, FLJ10305, MGC138290 |
Description
RNPEPL1 (Arginyl Aminopeptidase Like 1) is a protein-coding gene located on chromosome 2q37.3. It encodes a member of the M1 family of zinc metallopeptidases, which functions as an aminopeptidase that preferentially cleaves N-terminal arginine residues from peptides. The enzyme is involved in protein maturation and degradation pathways, and may play a role in angiogenesis and blood pressure regulation. RNPEPL1 is broadly expressed in many tissues, with highest levels in the kidney and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Potential role in angiotensin processing; altered aminopeptidase activity may affect blood pressure regulation. | Limited; inferred from functional homology to RNPEP (OMIM:618231) |
| Renal cell carcinoma | Overexpression observed in some renal tumors; may influence tumor progression via peptide processing. | COSMIC; expression data from TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Testis | 38.7 | High |
| Liver | 22.1 | Medium |
| Lung | 15.3 | Medium |
| Brain | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.5 | Embryonic kidney cells |
| HepG2 | 18.7 | Hepatocellular carcinoma |
| A549 | 12.1 | Lung carcinoma |
| MCF7 | 9.4 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; predicted possibly damaging (PolyPhen-2) |
| c.1562A>G (p.Tyr521Cys) | Missense | <0.01% | Unknown; predicted benign |
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)
| • aminopeptidase activity (GO:0004177) | • metalloexopeptidase activity (GO:0008235) |
| • zinc ion binding (GO:0008270) | • proteolysis (GO:0006508) |
| • cytoplasm (GO:0005737) |
Pathways
• Peptide hormone metabolism (Reactome:R-HSA-422085)
• Angiotensin II processing (Reactome:R-HSA-2022377)
Protein Summary
The RNPEPL1 protein (UniProt Q9H4A4) is a 1023-amino acid zinc-dependent aminopeptidase belonging to the M1 family. It contains a conserved HEXXH zinc-binding motif and is localized to the cytoplasm. The enzyme preferentially removes N-terminal arginine residues from peptide substrates, and is involved in the processing of bioactive peptides such as angiotensin III. Its expression is highest in kidney and testis, suggesting roles in renal function and reproductive biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNPEPL1 Knockout HEK293 Cell Line | EDJ-KQ15116 | Human | 57140 | Details Get a Quote |
| RNPEPL1 Knockout HCT 116 Cell Line | EDJ-KQ44464 | Human | 57140 | Details Get a Quote |
| RNPEPL1 Knockout A-549 Cell Line | EDJ-KQ45705 | Human | 57140 | Details Get a Quote |
| RNPEPL1 Knockout HeLa Cell Line | EDJ-KQ45707 | Human | 57140 | Details Get a Quote |
