NPSR1 (Neuropeptide S Receptor 1)
A G protein-coupled receptor for neuropeptide S, involved in asthma, anxiety, and immune regulation.
Gene Information Card
| Symbol | NPSR1 |
|---|---|
| Full Name | Neuropeptide S Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 387129 ncbi.nlm.nih.gov/gene/387129 |
| Ensembl ID | ENSG00000187258 |
| UniProt ID | Q6W5P4 |
| OMIM ID | 608595 |
| HGNC ID | 23632 |
| Aliases | GPR154, PGR14, ASRT1, NPSR |
Description
NPSR1 encodes a G protein-coupled receptor that binds neuropeptide S (NPS), a neuropeptide involved in arousal, anxiety, and immune modulation. The receptor is expressed in brain regions (amygdala, hypothalamus) and peripheral tissues (lung, immune cells). Variants in NPSR1 are associated with asthma, anxiety disorders, and inflammatory bowel disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | NPSR1 variants (e.g., Asn107Ile) alter receptor signaling, increasing airway hyperresponsiveness and inflammation. | ClinVar, OMIM |
| Anxiety Disorders | NPS-NPSR1 system modulates stress and fear responses; polymorphisms linked to panic disorder. | OMIM, NCBI |
| Inflammatory Bowel Disease | NPSR1 expression in intestinal epithelium influences mucosal inflammation. | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (amygdala) | 8.2 | Medium |
| Lung | 6.5 | Medium |
| Testis | 4.1 | Low |
| Small intestine | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | Overexpressed in recombinant studies |
| A549 (lung) | 7.1 | Endogenous expression |
| SH-SY5Y (neuronal) | 5.4 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.320A>T (p.Asn107Ile) | Missense | 0.5% (European) | Increased receptor activity; asthma risk |
| c.541G>A (p.Val181Met) | Missense | 0.2% | Reduced ligand binding |
| c.1090C>T (p.Arg364*) | Nonsense | <0.1% | Loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
p.Arg364* truncation leads to non-functional receptor.
Gain of Function (GOF)
p.Asn107Ile increases NPS potency and signaling.
Dominant Negative (DN)
None reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • neuropeptide binding |
| • neuropeptide signaling pathway | • positive regulation of cAMP biosynthetic process |
| • inflammatory response |
Pathways
• Neuropeptide S signaling (Reactome: R-HSA-373753)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
NPSR1 is a 371-amino acid GPCR with seven transmembrane domains. It couples primarily to Gαs, increasing intracellular cAMP upon NPS binding. The receptor is involved in stress response, arousal, and immune cell chemotaxis. Alternative splicing yields multiple isoforms with distinct signaling properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPSR1 Knockout HEK293 Cell Line | EDJ-KQ14485 | Human | 387129 | Details Get a Quote |
| NPSR1 Knockout HeLa Cell Line | EDJ-KQ59969 | Human | 387129 | Details Get a Quote |
| NPSR1 Knockout A-549 Cell Line | EDJ-KQ68431 | Human | 387129 | Details Get a Quote |
| NPSR1 Knockout HCT 116 Cell Line | EDJ-KQ76809 | Human | 387129 | Details Get a Quote |
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