NPY1R

Chr 4

neuropeptide Y receptor Y1

Also known as: NPY1-R, NPYR

NCBI Gene: 4886 ENSG00000164128 UniProt: P25929 OMIM: 162641

The protein is a G-protein-coupled receptor that mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone, activating intracellular signaling pathways including calcium mobilization and adenylate cyclase inhibition. Mutations in this gene have been associated with autosomal recessive obesity and feeding disorders in pediatric patients. The gene shows tolerance to loss-of-function variants (LOEUF 0.84), suggesting that complete loss of function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

This gene belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.84

LOEUF

Multiple*

Mechanism· predicted