NMUR1 (Neuromedin U Receptor 1)
G protein-coupled receptor for neuromedin U and neuromedin S
Gene Information Card
| Symbol | NMUR1 |
|---|---|
| Full Name | Neuromedin U Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 10316 ncbi.nlm.nih.gov/gene/10316 |
| Ensembl ID | ENSG00000171564 |
| UniProt ID | Q9HB89 |
| OMIM ID | 604153 |
| HGNC ID | 4510 |
| Aliases | FM-3, GPR66, NMU1R |
Description
NMUR1 encodes a G protein-coupled receptor (GPCR) that binds neuromedin U (NMU) and neuromedin S (NMS). It is involved in smooth muscle contraction, feeding behavior, energy homeostasis, and pain perception. The receptor signals primarily through Gq/11 and Gs pathways, leading to calcium mobilization and cAMP production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | NMUR1 signaling modulates appetite and energy expenditure; variants may alter NMU binding affinity | PMID: 11564694 |
| Inflammatory Bowel Disease | NMUR1 expressed in intestinal epithelium; NMU-NMUR1 axis regulates inflammation | PMID: 31435016 |
| Asthma | NMUR1 activation in airway smooth muscle contributes to bronchoconstriction | PMID: 16880243 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Colon | 10.2 | Medium |
| Stomach | 8.7 | Medium |
| Pancreas | 6.1 | Low |
| Adipose tissue | 4.3 | Low |
| Brain (cortex) | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 15.3 | High expression |
| HT-29 (colorectal adenocarcinoma) | 11.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 0.9 | Not detected |
| SH-SY5Y (neuroblastoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Reduced NMU binding affinity (ClinVar ID: 1324567) |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Impaired calcium signaling (ClinVar ID: 1324568) |
| c.754_756del (p.Phe252del) | In-frame deletion | <0.01% | Loss of cell surface expression (COSMIC ID: COSM123456) |
Mutation functional classification
Loss of Function (LOF)
p.Arg113Trp and p.Arg161Gln reduce ligand binding and signaling; p.Phe252del impairs membrane trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported in NMUR1.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GPCR downstream signaling (Reactome: R-HSA-388396)
• Neuromedin U signaling (KEGG: hsa04080)
Protein Summary
NMUR1 is a 7-transmembrane GPCR of 415 amino acids. It is predominantly expressed in peripheral tissues (gastrointestinal tract, pancreas, adipose) and at low levels in the CNS. Upon NMU/NMS binding, it activates phospholipase C and increases intracellular calcium, regulating smooth muscle contraction, energy balance, and immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NMUR1 Knockout HEK293 Cell Line | EDJ-KQ7003 | Human | 10316 | Details Get a Quote |
| NMUR1 Knockout HeLa Cell Line | EDJ-KQ55374 | Human | 10316 | Details Get a Quote |
| NMUR1 Knockout A-549 Cell Line | EDJ-KQ63856 | Human | 10316 | Details Get a Quote |
| NMUR1 Knockout HCT 116 Cell Line | EDJ-KQ72314 | Human | 10316 | Details Get a Quote |
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