NTSR1 Gene: Neurotensin Receptor 1 – Function, Expression, and Clinical Significance
A comprehensive biomedical overview of NTSR1, including genomic context, tissue expression, disease associations, and mutation landscape.
Gene Information Card
| Symbol | NTSR1 |
|---|---|
| Full Name | neurotensin receptor 1 |
| Gene Type | protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 4923 ncbi.nlm.nih.gov/gene/4923 |
| Ensembl ID | ENSG00000101188 |
| UniProt ID | P30989 |
| OMIM ID | 162651 |
| HGNC ID | 8039 |
| Aliases | NTR, NT-R-1, NTR1 |
Description
NTSR1 encodes neurotensin receptor 1, a G protein-coupled receptor (GPCR) that binds neurotensin, a neuropeptide involved in dopamine transmission, pain modulation, and gut motility. The receptor activates multiple signaling cascades, including phospholipase C, MAPK, and PI3K/AKT pathways, influencing cell proliferation and survival. NTSR1 is expressed in the central nervous system, gastrointestinal tract, and various cancers, where it may promote tumor growth and metastasis. Its role in cancer has made it a target for diagnostic and therapeutic applications.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | NTSR1 overexpression promotes tumor cell proliferation and invasion via MAPK and PI3K/AKT signaling. | Multiple studies, e.g., PMID: 23455444 |
| Pancreatic cancer | NTSR1 activation by neurotensin stimulates cancer cell growth and migration. | PMID: 25244949 |
| Lung cancer | NTSR1 expression correlates with poor prognosis and promotes metastasis. | PMID: 27058620 |
| Breast cancer | NTSR1 signaling contributes to estrogen-independent growth and invasion. | PMID: 24158333 |
| Schizophrenia | Genetic variants in NTSR1 may affect neurotensin signaling, influencing dopamine pathways. | PMID: 12642159 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Small intestine | 12.5 | Medium |
| Colon | 15.3 | Medium |
| Pancreas | 6.1 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HT-29 (colon cancer) | 25.4 | High expression |
| MIA PaCa-2 (pancreatic cancer) | 18.7 | Moderate expression |
| A549 (lung cancer) | 12.3 | Low expression |
| MCF7 (breast cancer) | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.548C>T (p.Pro183Leu) | Missense | 0.01% (gnomAD) | May alter ligand binding; functional impact unknown |
| c.1000G>A (p.Val334Ile) | Missense | 0.005% | Potential effect on receptor signaling; not clinically validated |
| c.1246C>T (p.Arg416Trp) | Missense | 0.002% | Located in C-terminal tail; may affect internalization |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in NTSR1.
Gain of Function (GOF)
Some somatic mutations in cancers may lead to constitutive activation, but evidence is limited.
Dominant Negative (DN)
Not documented for NTSR1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • neurotensin binding |
| • phospholipase C-activating G protein-coupled receptor signaling pathway | • cell surface receptor signaling pathway |
| • positive regulation of cell proliferation | • positive regulation of MAPK cascade |
Pathways
• Neurotensin signaling pathway
• GPCR downstream signaling
• MAPK signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
NTSR1 is a 418-amino acid protein with seven transmembrane domains typical of GPCRs. It is composed of an extracellular N-terminus, three extracellular loops, three intracellular loops, and an intracellular C-terminus. The receptor couples to Gq proteins, leading to phospholipase C activation and intracellular calcium mobilization. It also activates MAPK and PI3K pathways, promoting cell survival and proliferation. Post-translational modifications include glycosylation and phosphorylation, which regulate receptor trafficking and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NTSR1 Knockout HEK293 Cell Line | EDJ-KQ1594 | Human | 4923 | Details Get a Quote |
| NTSR1 Knockout HCT 116 Cell Line | EDJ-KQ21278 | Human | 4923 | Details Get a Quote |
| NTSR1 Knockout HeLa Cell Line | EDJ-KQ54034 | Human | 4923 | Details Get a Quote |
| NTSR1 Knockout A-549 Cell Line | EDJ-KQ62522 | Human | 4923 | Details Get a Quote |
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