OPRL1

Chr 20

opioid related nociceptin receptor 1

Also known as: KOR-3, KOR3, NOCIR, NOP, NOPr, OOR, OPRL, ORL1

NCBI Gene: 4987 ENSG00000125510 UniProt: P41146 OMIM: 602548

The protein is a G-protein coupled receptor that binds the neuropeptide nociceptin and modulates pain perception, locomotor activity, stress responses, and learning and memory through inhibition of adenylate cyclase and calcium channel activity. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.617), but no established human disease associations with OPRL1 mutations are currently documented in the provided data. This receptor system represents a potential therapeutic target for pain and neuropsychiatric conditions, though its role in pediatric neurogenetic disorders remains to be established.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the 7 transmembrane-spanning G protein-coupled receptor family, and functions as a receptor for the endogenous, opioid-related neuropeptide, nociceptin/orphanin FQ. This receptor-ligand system modulates a variety of biological functions and neurobehavior, including stress responses and anxiety behavior, learning and memory, locomotor activity, and inflammatory and immune responses. A promoter region between this gene and the 5'-adjacent RGS19 (regulator of G-protein signaling 19) gene on the opposite strand functions bi-directionally as a core-promoter for both genes, suggesting co-operative transcriptional regulation of these two functionally related genes. Alternatively spliced transcript variants have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.62

LOEUF

Multiple*

Mechanism· predicted