OPRPN

Chr 4

opiorphin prepropeptide

Also known as: BPLP, PRL1, PROL1, opiorphin

NCBI Gene: 58503 ENSG00000171199 UniProt: Q99935

The encoded protein (opiorphin) is an endogenous inhibitor of neprilysin and aminopeptidase N that prevents the breakdown of enkephalins and substance P, thereby modulating pain sensitivity through opioid-dependent pathways. No established Mendelian diseases are currently associated with mutations in this gene. The gene shows moderate tolerance to loss-of-function variants (pLI 0.39, LOEUF 1.73), suggesting haploinsufficiency is unlikely to cause severe developmental phenotypes.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the proline-rich protein family. The encoded protein has multiple proposed functions, including roles in pain suppression, penile erection, and protection of the eye surface. The QRFSR pentapeptide, known as opiorphin, is derived from the N-terminal of this protein. Opiorphin inhibits the enkephalin-inactivating peptidases neprilysin and aminopeptidase N, and this activity is thought to reduce sensitivity to painful stimuli by effecting enkephalin-related activation of opioid-dependent pathways. Opiorphin may also act as an anti-depressant. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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

1.73

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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