NTSR1

Chr 20

neurotensin receptor 1

Also known as: NTR

NCBI Gene: 4923 ENSG00000101188 UniProt: P30989

Neurotensin receptor 1 is a G-protein coupled receptor that binds the neuropeptide neurotensin and activates phosphatidylinositol-calcium signaling pathways, regulating functions including blood pressure, glucose metabolism, temperature control, pain perception, and intestinal motility. Mutations cause neurodevelopmental disorder with hypotonia, language delay, and malformations, inherited in an autosomal recessive pattern. This gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)