NRP1 (Neuropilin 1)
A transmembrane receptor involved in angiogenesis, axon guidance, and immune regulation.
Gene Information Card
| Symbol | NRP1 |
|---|---|
| Full Name | Neuropilin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p11.22 |
| NCBI Gene ID | 8829 ncbi.nlm.nih.gov/gene/8829 |
| Ensembl ID | ENSG00000099250 |
| UniProt ID | O14786 |
| OMIM ID | 602069 |
| HGNC ID | 8004 |
| Aliases | NRP, VEGF165R, NRP1, neuropilin-1 |
Description
NRP1 encodes neuropilin 1, a transmembrane glycoprotein that functions as a co-receptor for class 3 semaphorins (involved in axon guidance) and for vascular endothelial growth factor (VEGF) family members (involved in angiogenesis). It is expressed in endothelial cells, neurons, and various immune cells, and plays critical roles in development, tumor growth, and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of NRP1 enhances VEGF signaling, promoting tumor angiogenesis and metastasis. | COSMIC; multiple studies in NCBI PubMed |
| Retinopathy of prematurity | Altered NRP1 expression disrupts normal retinal vascularization. | ClinVar; OMIM |
| Neurodevelopmental disorders | NRP1 mutations impair semaphorin signaling, affecting neuronal migration and axon guidance. | OMIM; ClinVar |
| Immune dysregulation | NRP1 on T cells modulates immune synapse formation and regulatory T cell function. | UniProt; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Heart | 6.1 | Low |
| Kidney | 15.2 | High |
| Liver | 3.4 | Low |
| Placenta | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 45.2 | High expression; key for angiogenesis studies |
| HEK293 | 12.8 | Moderate expression |
| MCF7 (breast cancer) | 22.5 | Overexpressed in cancer cell lines |
| A549 (lung cancer) | 18.9 | Elevated expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% | Potential loss of semaphorin binding; reported in ClinVar |
| c.567C>T (p.Arg189Trp) | Missense | 0.005% | Associated with neurodevelopmental phenotypes |
| c.2100_2102del (p.Phe700del) | Deletion | 0.002% | In-frame deletion; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the semaphorin-binding domain (e.g., p.Gly412Arg) reduce ligand binding and downstream signaling.
Gain of Function (GOF)
Amplification or overexpression of NRP1 in tumors enhances VEGF signaling, promoting angiogenesis.
Dominant Negative (DN)
Truncating mutations that disrupt dimerization may interfere with wild-type NRP1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• VEGF signaling pathway (KEGG: hsa04370)
• Semaphorin interactions (Reactome: R-HSA-373755)
• Axon guidance (KEGG: hsa04360)
• Angiogenesis (Reactome: R-HSA-109582)
Protein Summary
Neuropilin 1 is a 923-amino-acid transmembrane protein with a large extracellular region containing CUB, FV/FVIII, and MAM domains, and a short cytoplasmic tail. It binds semaphorins (via the CUB domain) and VEGF (via the FV/FVIII domain), acting as a co-receptor with plexins or VEGFR2. It is essential for neuronal pathfinding, vascular development, and immune modulation. Post-translational modifications include glycosylation and phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRP1 Knockout HEK293 Cell Line | EDJ-KQ14498 | Human | 8829 | Details Get a Quote |
| NRP1 Knockout A-549 Cell Line | EDJ-KQ17928 | Human | 8829 | Details Get a Quote |
| NRP1 Knockout HCT 116 Cell Line | EDJ-KQ44765 | Human | 8829 | Details Get a Quote |
| NRP1 Knockout HeLa Cell Line | EDJ-KQ43512 | Human | 8829 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
