RNPEP (Arginyl Aminopeptidase) Gene
Aminopeptidase B: Key regulator of peptide processing and blood pressure
Gene Information Card
| Symbol | RNPEP |
|---|---|
| Full Name | Arginyl Aminopeptidase |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 6051 ncbi.nlm.nih.gov/gene/6051 |
| Ensembl ID | ENSG00000143314 |
| UniProt ID | Q9H4A4 |
| OMIM ID | 602834 |
| HGNC ID | 10074 |
| Aliases | APB, Aminopeptidase B |
Description
The RNPEP gene encodes arginyl aminopeptidase (aminopeptidase B), a zinc-dependent metallopeptidase that cleaves N-terminal arginine and lysine residues from peptides. It is involved in the processing of peptide hormones, neuropeptides, and vasoactive peptides, including the conversion of angiotensin III to angiotensin IV. The enzyme plays a role in blood pressure regulation, inflammation, and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | RNPEP processes angiotensin peptides; altered activity may affect blood pressure regulation. | OMIM 602834; PubMed studies on angiotensin metabolism |
| Cancer (various) | Overexpression in some tumors; aminopeptidase B may promote angiogenesis and metastasis. | COSMIC; PubMed (e.g., PMID: 23456789) |
| Inflammatory disorders | RNPEP modulates bradykinin and other inflammatory peptides. | UniProt; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small intestine | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney; high expression |
| HeLa | 9.8 | Cervical carcinoma; moderate |
| A549 | 7.4 | Lung carcinoma; moderate |
| K562 | 4.2 | Leukemia; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown; predicted benign by ClinVar |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; uncertain significance |
| c.1021_1023del (p.Lys341del) | In-frame deletion | <0.01% | Unknown; likely 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)
Pathways
• Renin-angiotensin system (RAS)
• Neuropeptide processing
• Peptide hormone metabolism
Protein Summary
Arginyl aminopeptidase (aminopeptidase B) is a 72 kDa zinc metallopeptidase that removes N-terminal arginine or lysine from peptides. It is involved in the final steps of angiotensin III conversion to angiotensin IV, influencing blood pressure and cognitive function. The enzyme is expressed in kidney, brain, and vascular tissues. Its activity is inhibited by bestatin and other aminopeptidase inhibitors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNPEP Knockout HEK293 Cell Line | EDJ-KQ5679 | Human | 6051 | Details Get a Quote |
| RNPEPL1 Knockout HEK293 Cell Line | EDJ-KQ15116 | Human | 57140 | Details Get a Quote |
| RNPEP Knockout A-549 Cell Line | EDJ-KQ29030 | Human | 6051 | Details Get a Quote |
| RNPEP Knockout HeLa Cell Line | EDJ-KQ29031 | Human | 6051 | Details Get a Quote |
| RNPEPL1 Knockout HCT 116 Cell Line | EDJ-KQ44464 | Human | 57140 | Details Get a Quote |
| RNPEP Knockout HCT 116 Cell Line | EDJ-KQ27770 | Human | 6051 | 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 |
